Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76345959_76345962del , CM000674.2:g.76345959_76345962del | GRCh38 |
| NC_000012.11:g.76739739_76739742del , CM000674.1:g.76739739_76739742del | GRCh37 |
| NC_000012.10:g.75263870_75263873del | NCBI36 |
| NG_016357.1:g.7484_7487del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.2026_2029del MANE Select | ENSP00000497413.1:p.Thr676ValfsTer5 | |
| ENST00000393262.3:c.2026_2029del | ENSP00000376946.3:p.Thr676ValfsTer5 | |
| NM_024685.3:c.2026_2029del | NP_078961.3:p.Thr676ValfsTer5 | |
| NM_024685.4:c.2026_2029del MANE Select | NP_078961.3:p.Thr676ValfsTer5 |