Canonical Allele Identifier: CA185510911

Gene:

Linked Data

• dbSNP Id: rs5894757
• gnomAD v2: 8-126491011-T-TG
• gnomAD v3: 8-125478769-T-TG
• gnomAD v4: 8-125478769-T-TG
• MyVariant Identifiers: chr8:g.126491011_126491012insG (hg19) ; chr8:g.125478769_125478770insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478770dup , CM000670.2:g.125478770dup	GRCh38
NC_000008.10:g.126491012dup , CM000670.1:g.126491012dup	GRCh37
NC_000008.9:g.126560194dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5456dup