Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100883255_100883257del , CM000676.2:g.100883255_100883257del | GRCh38 |
| NC_000014.8:g.101349592_101349594del , CM000676.1:g.101349592_101349594del | GRCh37 |
| NC_000014.7:g.100419345_100419347del | NCBI36 |
| NG_045001.1:g.6591_6593del | |
| NG_045000.5:g.51987_51989del | |
| NG_045000.6:g.51987_51989del | |
| NG_045001.2:g.25466_25468del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.1532_1534del MANE Select | ENSP00000497482.1:p.Val511_His512delinsAsp | |
| ENST00000534062.1:c.1532_1534del | ENSP00000435342.1:p.Val511_His512delinsAsp | |
| NM_001134888.2:c.1532_1534del | NP_001128360.1:p.Val511_His512delinsAsp | |
| NM_001134888.3:c.1532_1534del MANE Select | NP_001128360.1:p.Val511_His512delinsAsp |