Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586474_41586480del , CM000679.2:g.41586474_41586480del | GRCh38 |
| NC_000017.10:g.39742726_39742732del , CM000679.1:g.39742726_39742732del | GRCh37 |
| NC_000017.9:g.36996252_36996258del | NCBI36 |
| NG_008624.1:g.5417_5423del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.356_362del MANE Select | ENSP00000167586.6:p.Met119ThrfsTer25 | |
| ENST00000167586.6:c.356_362del | ENSP00000167586.6:p.Met119ThrfsTer25 | |
| NM_000526.4:c.356_362del | NP_000517.2:p.Met119ThrfsTer25 | |
| NM_000526.5:c.356_362del MANE Select | NP_000517.3:p.Met119ThrfsTer25 |