Canonical Allele Identifier: CA584988393

Gene:

Linked Data

• dbSNP Id: rs1027092122
• gnomAD v2: 8-126490669-A-AT
• gnomAD v3: 8-125478427-A-AT
• gnomAD v4: 8-125478427-A-AT
• MyVariant Identifiers: chr8:g.126490670_126490671insT (hg19) ; chr8:g.125478428_125478429insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478434dup , CM000670.2:g.125478434dup	GRCh38
NC_000008.10:g.126490676dup , CM000670.1:g.126490676dup	GRCh37
NC_000008.9:g.126559858dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5120dup