Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122456310del , CM000666.2:g.122456310del | GRCh38 |
| NC_000004.11:g.123377465del , CM000666.1:g.123377465del | GRCh37 |
| NC_000004.10:g.123596915del | NCBI36 |
| NG_016779.1:g.5189del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000586.4:c.134del MANE Select | NP_000577.2:p.Leu45Ter |
| ENST00000226730.5:c.134del MANE Select | ENSP00000226730.5:p.Leu45Ter |
| NM_000586.3:c.134del | NP_000577.2:p.Leu45Ter |
| ENST00000226730.4:c.134del | ENSP00000226730.4:p.Leu45Ter |
| ENST00000477645.1:n.134del | |
| XM_017008177.1:c.134del | XP_016863666.1:p.Leu45Ter |