Canonical Allele Identifier: CA917948431

Gene:

Linked Data

• dbSNP Id: rs1562452695

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.13514229del , CM000669.2:g.13514229del	GRCh38
NC_000007.13:g.13553854del , CM000669.1:g.13553854del	GRCh37
NC_000007.12:g.13520379del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745097.1:n.148-188087del