Canonical Allele Identifier: CA154393458
Gene:

Linked Data

dbSNP Id: rs530688333

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400534del , CM000669.2:g.13400534del GRCh38
NC_000007.13:g.13440159del , CM000669.1:g.13440159del GRCh37
NC_000007.12:g.13406684del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.147+90211del