Canonical Allele Identifier: CA1593952

Gene: ALK

Linked Data

• ClinVar Variation Id: 2780894
• ClinVar RCV Id: RCV003633800
• dbSNP Id: rs760263961
• ExAC: 2:29445362 CAA / C
• gnomAD v2: 2-29445362-CAA-C
• gnomAD v3: 2-29222496-CAA-C
• gnomAD v4: 2-29222496-CAA-C
• MyVariant Identifiers: chr2:g.29445363_29445364del (hg19) ; chr2:g.29222497_29222498del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222497_29222498del , CM000664.2:g.29222497_29222498del	GRCh38
NC_000002.11:g.29445363_29445364del , CM000664.1:g.29445363_29445364del	GRCh37
NC_000002.10:g.29298867_29298868del	NCBI36
NG_009445.1:g.704069_704070del , LRG_488:g.704069_704070del

Transcript Alleles

HGVS	Amino-acid change
ENST00000389048.8:c.3450+19_3450+20del MANE Select	ENSP00000373700.3:n.3450+19_3450+20del
ENST00000431873.6:c.677+19_677+20del
ENST00000638605.1:n.327+19_327+20del
ENST00000642122.1:c.246+19_246+20del	ENSP00000493203.1:n.246+19_246+20del
ENST00000389048.7:c.3450+19_3450+20del	ENSP00000373700.3:n.3450+19_3450+20del
ENST00000431873.5:c.330+19_330+20del	ENSP00000414027.2:n.330+19_330+20del
ENST00000453137.1:c.144+19_144+20del	ENSP00000387488.1:n.144+19_144+20del
ENST00000618119.4:c.2319+19_2319+20del	ENSP00000482733.1:n.2319+19_2319+20del
NM_004304.4:c.3450+19_3450+20del	NP_004295.2:n.3450+19_3450+20del
NM_001353765.1:c.246+19_246+20del	NP_001340694.1:n.246+19_246+20del
XM_024452778.1:c.603+19_603+20del	XP_024308546.1:n.603+19_603+20del
XM_024452779.1:c.246+19_246+20del	XP_024308547.1:n.246+19_246+20del
NM_004304.5:c.3450+19_3450+20del MANE Select	NP_004295.2:n.3450+19_3450+20del
NM_001353765.2:c.246+19_246+20del	NP_001340694.1:n.246+19_246+20del