Canonical Allele Identifier: CA847111583

Gene:

Linked Data

• dbSNP Id: rs1295399323
• gnomAD v3: 8-126999467-AAGCGTGAACAAATAGGTCTTTTT-A
• gnomAD v4: 8-126999467-AAGCGTGAACAAATAGGTCTTTTT-A
• MyVariant Identifiers: chr8:g.128011713_128011735del (hg19) ; chr8:g.126999468_126999490del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999468_126999490del , CM000670.2:g.126999468_126999490del	GRCh38
NC_000008.10:g.128011713_128011735del , CM000670.1:g.128011713_128011735del	GRCh37
NC_000008.9:g.128080895_128080917del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1301-7087_1301-7065del