Canonical Allele Identifier: CA608504786

Gene:

Linked Data

• dbSNP Id: rs1296187462
• gnomAD v2: 12-132014152-AG-A
• gnomAD v3: 12-131529607-AG-A
• gnomAD v4: 12-131529607-AG-A
• MyVariant Identifiers: chr12:g.132014153del (hg19) ; chr12:g.131529608del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131529608del , CM000674.2:g.131529608del	GRCh38
NC_000012.11:g.132014153del , CM000674.1:g.132014153del	GRCh37
NC_000012.10:g.130580106del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_945564.1:n.1076+167del
XR_001749407.2:n.1067+167del