Canonical Allele Identifier: CA176095707

Gene:

Linked Data

• ClinVar Variation Id: 496550
• ClinVar RCV Id: RCV000780344
• dbSNP Id: rs534597242
• gnomAD v2: 8-42995516-C-CGCGGTGACTCAGGCG
• gnomAD v3: 8-43140373-C-CGCGGTGACTCAGGCG
• gnomAD v4: 8-43140373-C-CGCGGTGACTCAGGCG
• MyVariant Identifiers: chr8:g.42995525_42995539dup (hg19) ; chr8:g.42995516_42995517insGCGGTGACTCAGGCG (hg19) ; chr8:g.43140382_43140396dup (hg38) ; chr8:g.43140373_43140374insGCGGTGACTCAGGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43140382_43140396dup , CM000670.2:g.43140382_43140396dup	GRCh38
NC_000008.10:g.42995525_42995539dup , CM000670.1:g.42995525_42995539dup	GRCh37
NC_000008.9:g.43114682_43114696dup	NCBI36
NG_009552.1:g.4934_4948dup