Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506785_122506786del , CM000672.2:g.122506785_122506786del | GRCh38 |
| NC_000010.10:g.124266301_124266302del , CM000672.1:g.124266301_124266302del | GRCh37 |
| NC_000010.9:g.124256291_124256292del | NCBI36 |
| NG_011554.1:g.50261_50262del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.872_873del MANE Select | ENSP00000357980.3:p.Thr291SerfsTer? | |
| ENST00000648167.1:c.554_555del | ENSP00000498033.1:p.Thr185SerfsTer? | |
| ENST00000368984.7:c.872_873del | ENSP00000357980.3:p.Thr291SerfsTer? | |
| ENST00000420892.1:c.95_96del | ENSP00000412676.1:p.Thr32SerfsTer? | |
| NM_002775.4:c.872_873del | NP_002766.1:p.Thr291SerfsTer? | |
| NM_002775.5:c.872_873del MANE Select | NP_002766.1:p.Thr291SerfsTer? |