Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47325679_47325685delinsTG , CM000672.2:g.47325679_47325685delinsTG | GRCh38 |
| NC_000010.10:g.48413677_48413683delinsCA , CM000672.1:g.48413677_48413683delinsCA | GRCh37 |
| NC_000010.9:g.48033683_48033689delinsCA | NCBI36 |
| NG_033916.1:g.8190_8196delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016204.4:c.1185_1191delinsTG MANE Select | NP_057288.1:p.Thr396AlafsTer11 |
| ENST00000581492.3:c.1185_1191delinsTG MANE Select | ENSP00000463051.1:p.Thr396AlafsTer11 |
| NM_016204.2:c.1185_1191delinsTG | NP_057288.1:p.Thr396AlafsTer11 |
| NM_016204.3:c.1185_1191delinsTG | NP_057288.1:p.Thr396AlafsTer11 |
| ENST00000581492.2:c.1185_1191delinsTG | ENSP00000463051.1:p.Thr396AlafsTer11 |
| XM_006717761.2:c.1161+24_1161+30delinsTG | XP_006717824.1:n.1161+24_1161+30delinsTG |