Canonical Allele Identifier: CA625447499

Gene:

Linked Data

• dbSNP Id: rs1158633923
• gnomAD v2: 17-28564378-A-AG
• gnomAD v3: 17-30237360-A-AG
• gnomAD v4: 17-30237360-A-AG
• MyVariant Identifiers: chr17:g.28564379_28564380insG (hg19) ; chr17:g.28564378_28564379insG (hg19) ; chr17:g.30237361_30237362insG (hg38) ; chr17:g.30237360_30237361insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237367dup , CM000679.2:g.30237367dup	GRCh38
NC_000017.10:g.28564385dup , CM000679.1:g.28564385dup	GRCh37
NC_000017.9:g.25588511dup	NCBI36
NG_011747.2:g.3576dup

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.166-275dup
XR_001752824.1:n.281-275dup