Canonical Allele Identifier: CA982866093

Gene:

Linked Data

• gnomAD v3: 17-30237270-CTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGG-C
• gnomAD v4: 17-30237270-CTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237285_30237347del , CM000679.2:g.30237285_30237347del	GRCh38
NC_000017.10:g.28564303_28564365del , CM000679.1:g.28564303_28564365del	GRCh37
NC_000017.9:g.25588429_25588491del	NCBI36
NG_011747.2:g.3604_3666del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+215_165+277del
XR_001752824.1:n.280+215_280+277del