Canonical Allele Identifier: CA982866040

Gene:

Linked Data

• gnomAD v3: 17-30237266-AG-A
• gnomAD v4: 17-30237266-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237269del , CM000679.2:g.30237269del	GRCh38
NC_000017.10:g.28564287del , CM000679.1:g.28564287del	GRCh37
NC_000017.9:g.25588413del	NCBI36
NG_011747.2:g.3670del

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+199del
XR_001752824.1:n.280+199del