Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76347725_76347729del , CM000674.2:g.76347725_76347729del | GRCh38 |
| NC_000012.11:g.76741505_76741509del , CM000674.1:g.76741505_76741509del | GRCh37 |
| NC_000012.10:g.75265636_75265640del | NCBI36 |
| NG_016357.1:g.5715_5719del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650064.2:c.257_261del MANE Select | ENSP00000497413.1:p.Phe86TyrfsTer8 | |
| ENST00000393262.3:c.257_261del | ENSP00000376946.3:p.Phe86TyrfsTer8 | |
| NM_024685.3:c.257_261del | NP_078961.3:p.Phe86TyrfsTer8 | |
| NM_024685.4:c.257_261del MANE Select | NP_078961.3:p.Phe86TyrfsTer8 |