Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673458_10673459del , CM000682.2:g.10673458_10673459del | GRCh38 |
| NC_000020.10:g.10654106_10654107del , CM000682.1:g.10654106_10654107del | GRCh37 |
| NC_000020.9:g.10602106_10602107del | NCBI36 |
| NG_007496.1:g.5589_5590del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.73_74del MANE Select | NP_000205.1:p.Arg25SerfsTer? |
| ENST00000254958.10:c.73_74del MANE Select | ENSP00000254958.4:p.Arg25SerfsTer? |
| NM_000214.2:c.73_74del | NP_000205.1:p.Arg25SerfsTer? |
| ENST00000254958.9:c.73_74del | ENSP00000254958.4:p.Arg25SerfsTer? |