Canonical Allele Identifier: CA242665968

Gene:

Linked Data

• dbSNP Id: rs72072572
• gnomAD v2: 12-102895078-CTCAA-C
• gnomAD v3: 12-102501300-CTCAA-C
• gnomAD v4: 12-102501300-CTCAA-C
• MyVariant Identifiers: chr12:g.102895087_102895090del (hg19) ; chr12:g.102895079_102895082del (hg19) ; chr12:g.102501309_102501312del (hg38) ; chr12:g.102501301_102501304del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102501326_102501329del , CM000674.2:g.102501326_102501329del	GRCh38
NC_000012.11:g.102895104_102895107del , CM000674.1:g.102895104_102895107del	GRCh37
NC_000012.10:g.101419234_101419237del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001749289.1:n.1952+17438_1952+17441del