Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215779941_215779942insTTTG , CM000663.2:g.215779941_215779942insTTTG | GRCh38 |
| NC_000001.10:g.215953283_215953284insTTTG , CM000663.1:g.215953283_215953284insTTTG | GRCh37 |
| NC_000001.9:g.214019906_214019907insTTTG | NCBI36 |
| NG_009497.1:g.648455_648456insCAAA | |
| NG_009497.2:g.648507_648508insCAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10840_10841insCAAA MANE Select | ENSP00000305941.3:p.Glu3614AlafsTer9 | |
| ENST00000674083.1:c.10840_10841insCAAA | ENSP00000501296.1:p.Glu3614AlafsTer9 | |
| ENST00000307340.7:c.10840_10841insCAAA | ENSP00000305941.3:p.Glu3614AlafsTer9 | |
| NM_206933.2:c.10840_10841insCAAA | NP_996816.2:p.Glu3614AlafsTer9 | |
| NM_206933.3:c.10840_10841insCAAA | NP_996816.2:p.Glu3614AlafsTer9 | |
| NM_206933.4:c.10840_10841insCAAA MANE Select | NP_996816.3:p.Glu3614AlafsTer9 |