Canonical Allele Identifier: CA847111727

Gene:

Linked Data

• dbSNP Id: rs1247068327
• gnomAD v3: 8-126999711-TAGA-T
• gnomAD v4: 8-126999711-TAGA-T
• MyVariant Identifiers: chr8:g.128011957_128011959del (hg19) ; chr8:g.126999712_126999714del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999716_126999718del , CM000670.2:g.126999716_126999718del	GRCh38
NC_000008.10:g.128011961_128011963del , CM000670.1:g.128011961_128011963del	GRCh37
NC_000008.9:g.128081143_128081145del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001746076.2:n.1301-6839_1301-6837del