Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786077_18786079del , CM000681.2:g.18786077_18786079del | GRCh38 |
| NC_000019.9:g.18896887_18896889del , CM000681.1:g.18896887_18896889del | GRCh37 |
| NC_000019.8:g.18757887_18757889del | NCBI36 |
| NG_007070.1:g.10226_10228del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1375_1377del MANE Select | ENSP00000222271.2:p.Ser459del | |
| ENST00000222271.6:c.1375_1377del | ENSP00000222271.2:p.Ser459del | |
| ENST00000425807.1:c.1216_1218del | ENSP00000403792.1:p.Ser406del | |
| ENST00000542601.6:c.1276_1278del | ENSP00000439156.2:p.Ser426del | |
| NM_000095.2:c.1375_1377del | NP_000086.2:p.Ser459del | |
| NM_000095.3:c.1375_1377del MANE Select | NP_000086.2:p.Ser459del |