Canonical Allele Identifier: CA1593920

Gene: ALK

Linked Data

• ClinVar Variation Id: 2866039
• ClinVar RCV Id: RCV003633108
• dbSNP Id: rs759189006
• ExAC: 2:29445215 GATC / G
• gnomAD v2: 2-29445215-GATC-G
• gnomAD v4: 2-29222349-GATC-G
• MyVariant Identifiers: chr2:g.29445216_29445218del (hg19) ; chr2:g.29222350_29222352del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222351_29222353del , CM000664.2:g.29222351_29222353del	GRCh38
NC_000002.11:g.29445217_29445219del , CM000664.1:g.29445217_29445219del	GRCh37
NC_000002.10:g.29298721_29298723del	NCBI36
NG_009445.1:g.704215_704217del , LRG_488:g.704215_704217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3507_3509del MANE Select	ENSP00000373700.3:p.Ile1170del
ENST00000431873.6:c.734_736del
ENST00000638605.1:n.384_386del
ENST00000642122.1:c.303_305del	ENSP00000493203.1:p.Ile102del
ENST00000389048.7:c.3507_3509del	ENSP00000373700.3:p.Ile1170del
ENST00000431873.5:c.387_389del	ENSP00000414027.2:p.Ile130del
ENST00000453137.1:c.201_203del	ENSP00000387488.1:p.Ile68del
ENST00000618119.4:c.2376_2378del	ENSP00000482733.1:p.Ile793del
NM_004304.4:c.3507_3509del	NP_004295.2:p.Ile1170del
NM_001353765.1:c.303_305del	NP_001340694.1:p.Ile102del
XM_024452778.1:c.660_662del	XP_024308546.1:p.Ile221del
XM_024452779.1:c.303_305del	XP_024308547.1:p.Ile102del
NM_004304.5:c.3507_3509del MANE Select	NP_004295.2:p.Ile1170del
NM_001353765.2:c.303_305del	NP_001340694.1:p.Ile102del