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Gene

ALK

ALK receptor tyrosine kinase

Summary

Cytogenetic location
2p23.2-p23.1
Coordinates
Chromosome 2: 29,192,774–29,921,586 (GRCh38)
Exons
29 exons across 728.8 kb
Protein
1,620 amino acids
Inheritance
Autosomal dominant
Also known as
CD246, ALK1
MANE Select transcript
ENST00000389048.8NM_004304.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Neuroblastoma Predisposition (ALK and PHOX2B)

    • Neuroblastoma susceptibility 3 (ALK)Autosomal dominant

      Germline ALK variants predisposing to neuroblastoma in infancy and childhood.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Abdominal ultrasound and urine catecholamine testing in early childhood.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How ALK is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where ALK sits. ALK and 11 genes near it on chromosome 2, from 28,463,961 to 30,650,399.Chromosome 22p23.2-p23.1p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.328.5 Mb29 Mb29.5 Mb30 Mb30.5 MbPLB1: 28,457,145–28,645,904, forward strandPLB1PPP1CB: 28,751,079–28,802,964, forward strandPPP1CBSPDYA: 28,782,517–28,850,611, forward strandSPDYATRMT61B: 28,798,308–28,870,392, reverse strandTRMT61BWDR43: 28,894,611–28,948,926, forward strandWDR43TOGARAM2: 28,956,506–29,052,236, forward strandTOGARAM2PCARE: 29,060,976–29,074,566, reverse strandPCARECLIP4: 29,095,545–29,199,777, forward strandCLIP4ALK: 29,192,774–29,921,586, reverse strandALKYPEL5: 30,146,555–30,160,538, forward strandYPEL5LBH: 30,231,531–30,325,821, forward strandLBHLCLAT1: 30,447,212–30,644,225, forward strandLCLAT1Diagram of ALK: 29 exons on the reverse strand of chromosome 2Exon 25: 1 known disease-causing siteExon 23: 1 known disease-causing siteExon 29: 29,192,774–29,193,922, 1,149 basesExon 28: 29,196,770–29,196,860, 91 basesExon 27: 29,197,542–29,197,676, 135 basesExon 26: 29,207,171–29,207,272, 102 basesExon 25: 29,209,786–29,209,878, 93 basesExon 24: 29,213,984–29,214,081, 98 basesExon 23: 29,220,706–29,220,835, 130 basesExon 22: 29,222,344–29,222,408, 65 basesExon 21: 29,222,517–29,222,607, 91 basesExon 20: 29,223,342–29,223,528, 187 basesExon 19: 29,225,461–29,225,565, 105 basesExon 18: 29,226,922–29,227,074, 153 basesExon 17: 29,227,574–29,227,672, 99 basesExon 16: 29,228,884–29,229,066, 183 basesExon 15: 29,232,304–29,232,448, 145 basesExon 14: 29,233,565–29,233,696, 132 basesExon 13: 29,239,680–29,239,830, 151 basesExon 12: 29,251,105–29,251,267, 163 basesExon 11: 29,275,099–29,275,227, 129 basesExon 10: 29,275,402–29,275,496, 95 basesExon 9: 29,296,888–29,297,057, 170 basesExon 8: 29,318,304–29,318,404, 101 basesExon 7: 29,320,751–29,320,882, 132 basesExon 6: 29,328,350–29,328,481, 132 basesExon 5: 29,383,732–29,383,859, 128 basesExon 4: 29,531,915–29,532,116, 202 basesExon 3: 29,694,850–29,695,014, 165 basesExon 2: 29,717,578–29,717,697, 120 basesExon 1: 29,919,993–29,921,586, 1,594 bases29201015′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 6.2 kb of the gene's 728.8 kb; 4,863 of those bases code for the protein.

How a genome test reads ALK

2

positions in ALK where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 728.8 kb of ALK, introns included, not only the 6.2 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ALK gene: ALK receptor tyrosine kinase. Retrieved 16 October 2026, from https://dantelabs.com/genes/alk

Vancouver

Dante Labs. ALK gene: ALK receptor tyrosine kinase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/alk

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