MyVariant.info:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.106432465_106432467del , CM000674.2:g.106432465_106432467del | GRCh38 |
| NC_000012.11:g.106826243_106826245del , CM000674.1:g.106826243_106826245del | GRCh37 |
| NC_000012.10:g.105350373_105350375del | NCBI36 |
| NG_031837.1:g.79808_79810del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228347.9:c.1612_1614del MANE Select | ENSP00000228347.4:p.Leu538del | |
| ENST00000228347.8:c.1612_1614del | ENSP00000228347.4:p.Leu538del | |
| ENST00000539066.5:c.1438_1440del | ENSP00000445721.1:p.Leu480del | |
| NM_001160708.1:c.1438_1440del | NP_001154180.1:p.Leu480del | |
| NM_018082.5:c.1612_1614del | NP_060552.4:p.Leu538del | |
| XM_017019621.2:c.1612_1614del | XP_016875110.1:p.Leu538del | |
| NM_018082.6:c.1612_1614del MANE Select | NP_060552.4:p.Leu538del | |
| NM_001160708.2:c.1438_1440del | NP_001154180.1:p.Leu480del |