Canonical Allele Identifier:
CA2501622360
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30237310_30237311insCTGCAGGGGGGATGCTGGGGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCTGGAAG , CM000679.2:g.30237310_30237311insCTGCAGGGGGGATGCTGGGGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCTGGAAG | GRCh38 |
| NC_000017.10:g.28564328_28564329insCTGCAGGGGGGATGCTGGGGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCTGGAAG , CM000679.1:g.28564328_28564329insCTGCAGGGGGGATGCTGGGGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCTGGAAG | GRCh37 |
| NC_000017.9:g.25588454_25588455insCTGCAGGGGGGATGCTGGGGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCTGGAAG | NCBI36 |
| NG_011747.2:g.3627_3628insTTCCAGCATCCCCCCTGCACCCCCAGCATCCCCCCTGCAGCCCTTCCAGCATCCCCCTGCACCCCCAGCATCCCCCCTGCAGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_934654.1:n.165+240_165+241insCTGCAGGGGGGATGCTGGGGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCTGGAAG | ||
| XR_001752824.1:n.280+240_280+241insCTGCAGGGGGGATGCTGGGGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCTGGAAG |