Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68440881_68440882del , CM000663.2:g.68440881_68440882del | GRCh38 |
| NC_000001.10:g.68906564_68906565del , CM000663.1:g.68906564_68906565del | GRCh37 |
| NC_000001.9:g.68679152_68679153del | NCBI36 |
| NG_008472.1:g.14079_14080del | |
| NG_008472.2:g.14079_14080del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.615_616del MANE Select | NP_000320.1:p.Ile206CysfsTer27 |
| ENST00000262340.6:c.615_616del MANE Select | ENSP00000262340.5:p.Ile206CysfsTer27 |
| NM_000329.2:c.615_616del | NP_000320.1:p.Ile206CysfsTer27 |
| ENST00000262340.5:c.615_616del | ENSP00000262340.5:p.Ile206CysfsTer27 |
| XM_017002027.1:c.339_340del | XP_016857516.1:p.Ile114CysfsTer27 |