Canonical Allele Identifier: CA2658467212
Gene: ALK HGNC NCBI

Linked Data

gnomAD v4: 2-29328287-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29328287G>A , CM000664.2:g.29328287G>A GRCh38
NC_000002.11:g.29551153G>A , CM000664.1:g.29551153G>A GRCh37
NC_000002.10:g.29404657G>A NCBI36
NG_009445.1:g.598280C>T , LRG_488:g.598280C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.1414+63C>T MANE Select ENSP00000373700.3:n.1414+63C>T
ENST00000389048.7:c.1414+63C>T ENSP00000373700.3:n.1414+63C>T
ENST00000618119.4:c.283+63C>T ENSP00000482733.1:n.283+63C>T
NM_004304.4:c.1414+63C>T NP_004295.2:n.1414+63C>T
XR_939920.1:n.693-98G>A
XR_939921.1:n.680+5759G>A
XR_001738688.2:n.2344+63C>T
XR_244977.4:n.1779G>A
XR_939920.2:n.583-98G>A
XR_939921.2:n.576+5759G>A
XR_939922.2:n.1819G>A
NM_004304.5:c.1414+63C>T MANE Select NP_004295.2:n.1414+63C>T