Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404757_42404758insTGGCTT , CM000679.2:g.42404757_42404758insTGGCTT | GRCh38 |
| NC_000017.10:g.40556775_40556776insTGGCTT , CM000679.1:g.40556775_40556776insTGGCTT | GRCh37 |
| NC_000017.9:g.37810301_37810302insTGGCTT | NCBI36 |
| NG_015845.1:g.23564_23565insAGCCAA | |
| NG_015845.2:g.23564_23565insAGCCAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.1103_1104insAGCCAA MANE Select | ENSP00000349541.4:p.Asp368delinsGluAlaAsn | |
| ENST00000357037.5:c.1103_1104insAGCCAA | ENSP00000349541.4:p.Asp368delinsGluAlaAsn | |
| NM_012232.5:c.1103_1104insAGCCAA | NP_036364.2:p.Asp368delinsGluAlaAsn | |
| NM_012232.6:c.1103_1104insAGCCAA MANE Select | NP_036364.2:p.Asp368delinsGluAlaAsn |