Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68444820_68444839del , CM000663.2:g.68444820_68444839del | GRCh38 |
| NC_000001.10:g.68910503_68910522del , CM000663.1:g.68910503_68910522del | GRCh37 |
| NC_000001.9:g.68683091_68683110del | NCBI36 |
| NG_008472.1:g.10123_10142del | |
| NG_008472.2:g.10123_10142del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.292_311del MANE Select | NP_000320.1:p.Ile98HisfsTer26 |
| ENST00000262340.6:c.292_311del MANE Select | ENSP00000262340.5:p.Ile98HisfsTer26 |
| NM_000329.2:c.292_311del | NP_000320.1:p.Ile98HisfsTer26 |
| ENST00000262340.5:c.292_311del | ENSP00000262340.5:p.Ile98HisfsTer26 |
| XM_017002027.1:c.16_35del | XP_016857516.1:p.Ile6HisfsTer26 |