Canonical Allele Identifier: CA583207366

Gene:

Linked Data

• dbSNP Id: rs1314266520
• gnomAD v2: 8-80103291-ACAGT-A
• gnomAD v3: 8-79191056-ACAGT-A
• gnomAD v4: 8-79191056-ACAGT-A
• MyVariant Identifiers: chr8:g.80103292_80103295del (hg19) ; chr8:g.79191057_79191060del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.79191059_79191062del , CM000670.2:g.79191059_79191062del	GRCh38
NC_000008.10:g.80103294_80103297del , CM000670.1:g.80103294_80103297del	GRCh37
NC_000008.9:g.80265849_80265852del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001745720.1:n.105+688_105+691del