Canonical Allele Identifier: CA531766852

Gene: ALK

Linked Data

• ClinVar Variation Id: 653463
• ClinVar RCV Id: RCV000809242 ; RCV001020702
• dbSNP Id: rs1573120189
• gnomAD v2: 2-29443611-T-TC
• gnomAD v3: 2-29220745-T-TC
• gnomAD v4: 2-29220745-T-TC
• MyVariant Identifiers: chr2:g.29443611_29443612insC (hg19) ; chr2:g.29220745_29220746insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220751dup , CM000664.2:g.29220751dup	GRCh38
NC_000002.11:g.29443617dup , CM000664.1:g.29443617dup	GRCh37
NC_000002.10:g.29297121dup	NCBI36
NG_009445.1:g.705821dup , LRG_488:g.705821dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3605dup MANE Select	ENSP00000373700.3:p.Asp1203ArgfsTer?
ENST00000431873.6:c.832dup
ENST00000638605.1:n.482dup
ENST00000642122.1:c.401dup	ENSP00000493203.1:p.Asp135ArgfsTer?
ENST00000389048.7:c.3605dup	ENSP00000373700.3:p.Asp1203ArgfsTer?
ENST00000431873.5:c.485dup	ENSP00000414027.2:p.Asp163ArgfsTer?
ENST00000618119.4:c.2474dup	ENSP00000482733.1:p.Asp826ArgfsTer?
NM_004304.4:c.3605dup	NP_004295.2:p.Asp1203ArgfsTer?
NM_001353765.1:c.401dup	NP_001340694.1:p.Asp135ArgfsTer?
XM_024452778.1:c.758dup	XP_024308546.1:p.Asp254ArgfsTer?
XM_024452779.1:c.401dup	XP_024308547.1:p.Asp135ArgfsTer?
NM_004304.5:c.3605dup MANE Select	NP_004295.2:p.Asp1203ArgfsTer?
NM_001353765.2:c.401dup	NP_001340694.1:p.Asp135ArgfsTer?