Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429893_68429894insTTTTTAAT , CM000663.2:g.68429893_68429894insTTTTTAAT | GRCh38 |
| NC_000001.10:g.68895576_68895577insTTTTTAAT , CM000663.1:g.68895576_68895577insTTTTTAAT | GRCh37 |
| NC_000001.9:g.68668164_68668165insTTTTTAAT | NCBI36 |
| NG_008472.1:g.25067_25068insTTAAAAAA | |
| NG_008472.2:g.25067_25068insTTAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1485_1486insTTAAAAAA MANE Select | ENSP00000262340.5:p.Gly496LeufsTer11 | |
| ENST00000262340.5:c.1485_1486insTTAAAAAA | ENSP00000262340.5:p.Gly496LeufsTer11 | |
| NM_000329.2:c.1485_1486insTTAAAAAA | NP_000320.1:p.Gly496LeufsTer11 | |
| XM_017002027.1:c.1209_1210insTTAAAAAA | XP_016857516.1:p.Gly404LeufsTer11 | |
| NM_000329.3:c.1485_1486insTTAAAAAA MANE Select | NP_000320.1:p.Gly496LeufsTer11 |