Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785943_18785947del , CM000681.2:g.18785943_18785947del | GRCh38 |
| NC_000019.9:g.18896753_18896757del , CM000681.1:g.18896753_18896757del | GRCh37 |
| NC_000019.8:g.18757753_18757757del | NCBI36 |
| NG_007070.1:g.10358_10362del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1489+18_1489+22del MANE Select | ENSP00000222271.2:n.1489+18_1489+22del | |
| ENST00000222271.6:c.1489+18_1489+22del | ENSP00000222271.2:n.1489+18_1489+22del | |
| ENST00000425807.1:c.1330+18_1330+22del | ENSP00000403792.1:n.1330+18_1330+22del | |
| ENST00000542601.6:c.1390+18_1390+22del | ENSP00000439156.2:n.1390+18_1390+22del | |
| NM_000095.2:c.1489+18_1489+22del | NP_000086.2:n.1489+18_1489+22del | |
| NM_000095.3:c.1489+18_1489+22del MANE Select | NP_000086.2:n.1489+18_1489+22del |