Canonical Allele Identifier: CA246212017

Gene:

Linked Data

• dbSNP Id: rs570752315
• gnomAD v2: 12-132014098-CTAT-C
• gnomAD v3: 12-131529553-CTAT-C
• gnomAD v4: 12-131529553-CTAT-C
• MyVariant Identifiers: chr12:g.132014099_132014101del (hg19) ; chr12:g.131529554_131529556del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131529561_131529563del , CM000674.2:g.131529561_131529563del	GRCh38
NC_000012.11:g.132014106_132014108del , CM000674.1:g.132014106_132014108del	GRCh37
NC_000012.10:g.130580059_130580061del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_945564.1:n.1076+219_1076+221del
XR_001749407.2:n.1067+219_1067+221del