Canonical Allele Identifier: CA1116942032

Gene:

Linked Data

• dbSNP Id: rs1810398913
• gnomAD v3: 8-97269686-AT-A
• gnomAD v4: 8-97269686-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269687del , CM000670.2:g.97269687del	GRCh38
NC_000008.10:g.98281915del , CM000670.1:g.98281915del	GRCh37
NC_000008.9:g.98351091del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_125390.1:n.471+149383del