Canonical Allele Identifier: CA918534880

Gene:

Linked Data

• dbSNP Id: rs1564460400
• gnomAD v3: 9-111236675-GTGA-G
• gnomAD v4: 9-111236675-GTGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.111236676_111236678del , CM000671.2:g.111236676_111236678del	GRCh38
NC_000009.11:g.113998956_113998958del , CM000671.1:g.113998956_113998958del	GRCh37
NC_000009.10:g.113038777_113038779del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_930247.1:n.476+36135_476+36137del
XR_930248.1:n.556+36135_556+36137del
XR_930249.1:n.476+36135_476+36137del
XR_001746893.1:n.476+36135_476+36137del
XR_001746894.1:n.476+36135_476+36137del
XR_930247.2:n.476+36135_476+36137del