Canonical Allele Identifier: CA1028826206
Gene: ALK HGNC NCBI

Linked Data

dbSNP Id: rs1667351489
gnomAD v3: 2-29328771-C-T
gnomAD v4: 2-29328771-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29328771C>T , CM000664.2:g.29328771C>T GRCh38
NC_000002.11:g.29551637C>T , CM000664.1:g.29551637C>T GRCh37
NC_000002.10:g.29405141C>T NCBI36
NG_009445.1:g.597796G>A , LRG_488:g.597796G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.1283-290G>A MANE Select ENSP00000373700.3:n.1283-290G>A
ENST00000389048.7:c.1283-290G>A ENSP00000373700.3:n.1283-290G>A
ENST00000618119.4:c.152-290G>A ENSP00000482733.1:n.152-290G>A
NM_004304.4:c.1283-290G>A NP_004295.2:n.1283-290G>A
XR_939920.1:n.818-154C>T
XR_939921.1:n.680+6243C>T
XR_001738688.2:n.2213-290G>A
XR_939920.2:n.708-154C>T
XR_939921.2:n.576+6243C>T
NM_004304.5:c.1283-290G>A MANE Select NP_004295.2:n.1283-290G>A