Canonical Allele Identifier: CA584988401

Gene:

Linked Data

• dbSNP Id: rs565955116
• gnomAD v2: 8-126490901-TAA-T
• gnomAD v3: 8-125478659-TAA-T
• gnomAD v4: 8-125478659-TAA-T
• MyVariant Identifiers: chr8:g.126490902_126490903del (hg19) ; chr8:g.125478660_125478661del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478669_125478670del , CM000670.2:g.125478669_125478670del	GRCh38
NC_000008.10:g.126490911_126490912del , CM000670.1:g.126490911_126490912del	GRCh37
NC_000008.9:g.126560093_126560094del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5355_256+5356del