Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4933886_4933959del , CM000679.2:g.4933886_4933959del | GRCh38 |
| NC_000017.10:g.4837181_4837254del , CM000679.1:g.4837181_4837254del | GRCh37 |
| NG_008767.2:g.6592_6665del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.1282_1355del (GP1BA) MANE Select | ENSP00000329380.5:p.Ser428HisfsTer? | |
| ENST00000649830.1:c.-888+385_-888+458del (CHRNE) | ENSP00000496907.1:n.-888+385_-888+458del | |
| ENST00000329125.5:c.1282_1355del (GP1BA) | ENSP00000329380.5:p.Ser428HisfsTer? | |
| ENST00000611961.1:c.1272+10_1277del (GP1BA) | ||
| NM_000173.6:c.1282_1355del (GP1BA) | NP_000164.5:p.Ser428HisfsTer? | |
| NM_000173.7:c.1282_1355del (GP1BA) MANE Select | NP_000164.5:p.Ser428HisfsTer? |