Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4934083_4934084dup , CM000679.2:g.4934083_4934084dup | GRCh38 |
| NC_000017.10:g.4837378_4837379dup , CM000679.1:g.4837378_4837379dup | GRCh37 |
| NC_000017.9:g.4778119_4778120dup | NCBI36 |
| NG_008767.2:g.6789_6790dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.1479_1480dup (GP1BA) MANE Select | ENSP00000329380.5:p.Thr494LysfsTer? | |
| ENST00000649830.1:c.-888+263_-888+264dup (CHRNE) | ENSP00000496907.1:n.-888+263_-888+264dup | |
| ENST00000329125.5:c.1479_1480dup (GP1BA) | ENSP00000329380.5:p.Thr494LysfsTer? | |
| ENST00000611961.1:c.1401_1402dup (GP1BA) | ENSP00000484439.1:p.Thr468LysfsTer? | |
| NM_000173.6:c.1479_1480dup (GP1BA) | NP_000164.5:p.Thr494LysfsTer? | |
| NM_000173.7:c.1479_1480dup (GP1BA) MANE Select | NP_000164.5:p.Thr494LysfsTer? |