Canonical Allele Identifier: CA1030689089

Gene:

Linked Data

• dbSNP Id: rs1668662582
• gnomAD v3: 2-52722494-CAGTCAAAACTCT-C
• gnomAD v4: 2-52722494-CAGTCAAAACTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.52722496_52722507del , CM000664.2:g.52722496_52722507del	GRCh38
NC_000002.11:g.52949634_52949645del , CM000664.1:g.52949634_52949645del	GRCh37
NC_000002.10:g.52803138_52803149del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_002959384.1:n.751_762del