Canonical Allele Identifier: CA982866623

Gene:

Linked Data

• gnomAD v3: 17-30237328-T-TGCAGGGGGGATGCC
• gnomAD v4: 17-30237328-T-TGCAGGGGGGATGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237329_30237330insCAGGGGGGATGCCG , CM000679.2:g.30237329_30237330insCAGGGGGGATGCCG	GRCh38
NC_000017.10:g.28564347_28564348insCAGGGGGGATGCCG , CM000679.1:g.28564347_28564348insCAGGGGGGATGCCG	GRCh37
NC_000017.9:g.25588473_25588474insCAGGGGGGATGCCG	NCBI36
NG_011747.2:g.3608_3609insGGCATCCCCCCTGC

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+259_165+260insCAGGGGGGATGCCG
XR_001752824.1:n.280+259_280+260insCAGGGGGGATGCCG