Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8086078_8086079insTTTT , CM000679.2:g.8086078_8086079insTTTT | GRCh38 |
| NC_000017.10:g.7989396_7989397insTTTT , CM000679.1:g.7989396_7989397insTTTT | GRCh37 |
| NC_000017.9:g.7930121_7930122insTTTT | NCBI36 |
| NG_007099.1:g.6626_6627insAAAA | |
| NG_007099.2:g.6639_6640insAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.290_291insAAAA MANE Select | ENSP00000497784.1:p.Tyr97Ter | |
| ENST00000319144.4:c.290_291insAAAA | ENSP00000315167.4:p.Tyr97Ter | |
| NM_001139.2:c.290_291insAAAA | NP_001130.1:p.Tyr97Ter | |
| NM_001139.3:c.290_291insAAAA MANE Select | NP_001130.1:p.Tyr97Ter |