Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015710_8015711insTTTTTAAT , CM000679.2:g.8015710_8015711insTTTTTAAT | GRCh38 |
| NC_000017.10:g.7919028_7919029insTTTTTAAT , CM000679.1:g.7919028_7919029insTTTTTAAT | GRCh37 |
| NC_000017.9:g.7859753_7859754insTTTTTAAT | NCBI36 |
| NG_009092.1:g.18041_18042insTTTTTAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2945-33_2945-32insTTTTTAAT MANE Select | ENSP00000254854.4:n.2945-33_2945-32insTTTTTAAT | |
| ENST00000254854.4:c.2945-33_2945-32insTTTTTAAT | ENSP00000254854.4:n.2945-33_2945-32insTTTTTAAT | |
| NM_000180.3:c.2945-33_2945-32insTTTTTAAT | NP_000171.1:n.2945-33_2945-32insTTTTTAAT | |
| XM_011523816.1:c.2945-33_2945-32insTTTTTAAT | XP_011522118.1:n.2945-33_2945-32insTTTTTAAT | |
| NM_000180.4:c.2945-33_2945-32insTTTTTAAT MANE Select | NP_000171.1:n.2945-33_2945-32insTTTTTAAT |