Canonical Allele Identifier: CA982866452

Gene:

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237333_30237334insGGCTGCAGGGGGGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGG , CM000679.2:g.30237333_30237334insGGCTGCAGGGGGGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGG	GRCh38
NC_000017.10:g.28564351_28564352insGGCTGCAGGGGGGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGG , CM000679.1:g.28564351_28564352insGGCTGCAGGGGGGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGG	GRCh37
NC_000017.9:g.25588477_25588478insGGCTGCAGGGGGGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGG	NCBI36
NG_011747.2:g.3637_3638insCCCCCTGCAGCCCCCCCAGCATCCCCCCTGCAGCCCCCCCAGCATC

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+263_165+264insGGCTGCAGGGGGGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGG
XR_001752824.1:n.280+263_280+264insGGCTGCAGGGGGGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGG