Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129812816del , CM000685.2:g.129812816del | GRCh38 |
| NC_000023.10:g.128946792del , CM000685.1:g.128946792del | GRCh37 |
| NC_000023.9:g.128774473del | NCBI36 |
| NG_021387.1:g.36119del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357166.11:c.679del MANE Select | ENSP00000349689.6:p.Leu227Ter | |
| ENST00000357166.10:c.679del | ENSP00000349689.6:p.Leu227Ter | |
| ENST00000371064.7:c.679del | ENSP00000360103.3:p.Leu227Ter | |
| ENST00000433917.5:c.420del | ||
| NM_001008222.2:c.679del | NP_001008223.1:p.Leu227Ter | |
| NM_016032.3:c.679del | NP_057116.2:p.Leu227Ter | |
| XR_001755694.2:n.1183del | ||
| NM_016032.4:c.679del MANE Select | NP_057116.2:p.Leu227Ter | |
| NM_001008222.3:c.679del | NP_001008223.1:p.Leu227Ter |