Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119422368del , CM000663.2:g.119422368del | GRCh38 |
| NC_000001.10:g.119964991del , CM000663.1:g.119964991del | GRCh37 |
| NC_000001.9:g.119766514del | NCBI36 |
| NG_013349.1:g.12438del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000198.4:c.867del MANE Select | NP_000189.1:p.Met290CysfsTer10 |
| ENST00000369416.4:c.867del MANE Select | ENSP00000358424.3:p.Met290CysfsTer10 |
| NM_000198.3:c.867del | NP_000189.1:p.Met290CysfsTer10 |
| NM_001166120.1:c.867del | NP_001159592.1:p.Met290CysfsTer10 |
| NM_001166120.2:c.867del | NP_001159592.1:p.Met290CysfsTer10 |
| ENST00000369416.3:c.867del | ENSP00000358424.3:p.Met290CysfsTer10 |
| ENST00000543831.5:c.867del | ENSP00000445122.1:p.Met290CysfsTer10 |