Canonical Allele Identifier: CA951207946

Gene:

Linked Data

• dbSNP Id: rs1835434034
• gnomAD v3: 12-102501451-CAG-C
• gnomAD v4: 12-102501451-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102501453_102501454del , CM000674.2:g.102501453_102501454del	GRCh38
NC_000012.11:g.102895231_102895232del , CM000674.1:g.102895231_102895232del	GRCh37
NC_000012.10:g.101419361_101419362del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001749289.1:n.1952+17565_1952+17566del