Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4933887_4933915del , CM000679.2:g.4933887_4933915del | GRCh38 |
| NC_000017.10:g.4837182_4837210del , CM000679.1:g.4837182_4837210del | GRCh37 |
| NG_008767.2:g.6593_6621del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.1283_1311del (GP1BA) MANE Select | ENSP00000329380.5:p.Ser428Ter | |
| ENST00000649830.1:c.-888+427_-888+455del (CHRNE) | ENSP00000496907.1:n.-888+427_-888+455del | |
| ENST00000329125.5:c.1283_1311del (GP1BA) | ENSP00000329380.5:p.Ser428Ter | |
| ENST00000611961.1:c.1272+11_1273-40del (GP1BA) | ENSP00000484439.1:n.1272+11_1273-40del | |
| NM_000173.6:c.1283_1311del (GP1BA) | NP_000164.5:p.Ser428Ter | |
| NM_000173.7:c.1283_1311del (GP1BA) MANE Select | NP_000164.5:p.Ser428Ter |