Canonical Allele Identifier: CA1059430084

Gene:

Linked Data

• dbSNP Id: rs1711591827
• gnomAD v3: 4-12578373-AC-A
• gnomAD v4: 4-12578373-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.12578374del , CM000666.2:g.12578374del	GRCh38
NC_000004.11:g.12579998del , CM000666.1:g.12579998del	GRCh37
NC_000004.10:g.12189096del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_925406.1:n.106+30968del
XR_001741374.1:n.254+44281del
XR_925406.3:n.140+30968del