Canonical Allele Identifier: CA982866448

Gene:

Linked Data

• gnomAD v3: 17-30237299-A-AGATGCTGGGGGGGCTGCAGGGGG
• gnomAD v4: 17-30237299-A-AGATGCTGGGGGGGCTGCAGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237311_30237333dup , CM000679.2:g.30237311_30237333dup	GRCh38
NC_000017.10:g.28564329_28564351dup , CM000679.1:g.28564329_28564351dup	GRCh37
NC_000017.9:g.25588455_25588477dup	NCBI36
NG_011747.2:g.3615_3637dup

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+241_165+263dup
XR_001752824.1:n.280+241_280+263dup