Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785836_18785844del , CM000681.2:g.18785836_18785844del | GRCh38 |
| NC_000019.9:g.18896646_18896654del , CM000681.1:g.18896646_18896654del | GRCh37 |
| NC_000019.8:g.18757646_18757654del | NCBI36 |
| NG_007070.1:g.10465_10473del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1501_1509del MANE Select | ENSP00000222271.2:p.Gly501_Val503del | |
| ENST00000222271.6:c.1501_1509del | ENSP00000222271.2:p.Gly501_Val503del | |
| ENST00000425807.1:c.1342_1350del | ENSP00000403792.1:p.Gly448_Val450del | |
| ENST00000542601.6:c.1402_1410del | ENSP00000439156.2:p.Gly468_Val470del | |
| NM_000095.2:c.1501_1509del | NP_000086.2:p.Gly501_Val503del | |
| NM_000095.3:c.1501_1509del MANE Select | NP_000086.2:p.Gly501_Val503del |