Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737957_120737958del , CM000674.2:g.120737957_120737958del | GRCh38 |
| NC_000012.11:g.121175760_121175761del , CM000674.1:g.121175760_121175761del | GRCh37 |
| NC_000012.10:g.119660143_119660144del | NCBI36 |
| NG_007991.1:g.17190_17191del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242592.9:c.593_594del MANE Select | ENSP00000242592.4:p.Phe198CysfsTer? | |
| ENST00000242592.8:c.593_594del | ENSP00000242592.4:p.Phe198CysfsTer? | |
| ENST00000411593.2:c.473-92_473-91del | ENSP00000401045.2:n.473-92_473-91del | |
| NM_000017.3:c.593_594del | NP_000008.1:p.Phe198CysfsTer? | |
| NM_001302554.1:c.473-92_473-91del | NP_001289483.1:n.473-92_473-91del | |
| NM_000017.4:c.593_594del MANE Select | NP_000008.1:p.Phe198CysfsTer? | |
| NM_001302554.2:c.473-92_473-91del | NP_001289483.1:n.473-92_473-91del |