Canonical Allele Identifier: CA982866499

Gene:

Linked Data

• gnomAD v3: 17-30237309-G-GGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGATGCTGGAA
• gnomAD v4: 17-30237309-G-GGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGATGCTGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237342_30237343insATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGG , CM000679.2:g.30237342_30237343insATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGG	GRCh38
NC_000017.10:g.28564360_28564361insATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGG , CM000679.1:g.28564360_28564361insATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGG	GRCh37
NC_000017.9:g.25588486_25588487insATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGG	NCBI36
NG_011747.2:g.3627_3628insTTCCAGCATCCCCCTGCACCCCCAGCATCCCCCCTGCAGCCC

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+272_165+273insATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGG
XR_001752824.1:n.280+272_280+273insATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGG