Canonical Allele Identifier: CA1462694261

Gene:

Linked Data

• dbSNP Id: rs1756228379
• gnomAD v3: 4-62558184-GGT-G
• gnomAD v4: 4-62558184-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.62558191_62558192del , CM000666.2:g.62558191_62558192del	GRCh38
NC_000004.11:g.63423909_63423910del , CM000666.1:g.63423909_63423910del	GRCh37
NC_000004.10:g.63106504_63106505del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938814.1:n.161-5653_161-5652del