Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234128del , CM000673.2:g.5234128del | GRCh38 |
| NC_000011.9:g.5255358del , CM000673.1:g.5255358del | GRCh37 |
| NC_000011.8:g.5211934del | NCBI36 |
| NG_000007.3:g.63489del | |
| NG_063112.2:g.14531del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.179del | ENSP00000494708.1:p.Lys60ArgfsTer2 | |
| ENST00000650601.1:c.179del MANE Select | ENSP00000497529.1:p.Lys60ArgfsTer2 | |
| ENST00000292901.7:c.179del | ENSP00000292901.3:p.Lys60ArgfsTer2 | |
| ENST00000380299.3:c.179del | ENSP00000369654.3:p.Lys60ArgfsTer2 | |
| ENST00000417377.1:c.92+215del | ENSP00000414741.1:n.92+215del | |
| ENST00000429817.1:c.179del | ENSP00000393810.1:p.Lys60ArgfsTer2 | |
| NM_000519.3:c.179del | NP_000510.1:p.Lys60ArgfsTer2 | |
| NM_000519.4:c.179del MANE Select | NP_000510.1:p.Lys60ArgfsTer2 |