Canonical Allele Identifier: CA982866288

Gene:

Linked Data

• gnomAD v3: 17-30237288-G-GA
• gnomAD v4: 17-30237288-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237288_30237289insA , CM000679.2:g.30237288_30237289insA	GRCh38
NC_000017.10:g.28564306_28564307insA , CM000679.1:g.28564306_28564307insA	GRCh37
NC_000017.9:g.25588432_25588433insA	NCBI36
NG_011747.2:g.3648_3649insT

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+218_165+219insA
XR_001752824.1:n.280+218_280+219insA