Canonical Allele Identifier: CA982866646

Gene:

Linked Data

• gnomAD v3: 17-30237331-G-GA
• gnomAD v4: 17-30237331-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237331_30237332insA , CM000679.2:g.30237331_30237332insA	GRCh38
NC_000017.10:g.28564349_28564350insA , CM000679.1:g.28564349_28564350insA	GRCh37
NC_000017.9:g.25588475_25588476insA	NCBI36
NG_011747.2:g.3605_3606insT

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+261_165+262insA
XR_001752824.1:n.280+261_280+262insA