Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346192_76346193del , CM000674.2:g.76346192_76346193del | GRCh38 |
| NC_000012.11:g.76739972_76739973del , CM000674.1:g.76739972_76739973del | GRCh37 |
| NC_000012.10:g.75264103_75264104del | NCBI36 |
| NG_016357.1:g.7253_7254del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.1795_1796del MANE Select | ENSP00000497413.1:p.Val599PhefsTer6 | |
| ENST00000393262.3:c.1795_1796del | ENSP00000376946.3:p.Val599PhefsTer6 | |
| NM_024685.3:c.1795_1796del | NP_078961.3:p.Val599PhefsTer6 | |
| NM_024685.4:c.1795_1796del MANE Select | NP_078961.3:p.Val599PhefsTer6 |