Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215779882_215779883insT , CM000663.2:g.215779882_215779883insT | GRCh38 |
| NC_000001.10:g.215953224_215953225insT , CM000663.1:g.215953224_215953225insT | GRCh37 |
| NC_000001.9:g.214019847_214019848insT | NCBI36 |
| NG_009497.1:g.648514_648515insA | |
| NG_009497.2:g.648566_648567insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10899_10900insA MANE Select | ENSP00000305941.3:p.His3634ThrfsTer3 | |
| ENST00000674083.1:c.10899_10900insA | ENSP00000501296.1:p.His3634ThrfsTer3 | |
| ENST00000307340.7:c.10899_10900insA | ENSP00000305941.3:p.His3634ThrfsTer3 | |
| NM_206933.2:c.10899_10900insA | NP_996816.2:p.His3634ThrfsTer3 | |
| NM_206933.3:c.10899_10900insA | NP_996816.2:p.His3634ThrfsTer3 | |
| NM_206933.4:c.10899_10900insA MANE Select | NP_996816.3:p.His3634ThrfsTer3 |