Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431260_68431263del , CM000663.2:g.68431260_68431263del | GRCh38 |
| NC_000001.10:g.68896943_68896946del , CM000663.1:g.68896943_68896946del | GRCh37 |
| NC_000001.9:g.68669531_68669534del | NCBI36 |
| NG_008472.1:g.23697_23700del | |
| NG_008472.2:g.23697_23700del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1338+19_1338+22del MANE Select | ENSP00000262340.5:n.1338+19_1338+22del | |
| ENST00000262340.5:c.1338+19_1338+22del | ENSP00000262340.5:n.1338+19_1338+22del | |
| NM_000329.2:c.1338+19_1338+22del | NP_000320.1:n.1338+19_1338+22del | |
| XM_017002027.1:c.1062+19_1062+22del | XP_016857516.1:n.1062+19_1062+22del | |
| NM_000329.3:c.1338+19_1338+22del MANE Select | NP_000320.1:n.1338+19_1338+22del |