gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001895 (AMR)
Exomes Max Group AF
0.00002975 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56844164del , CM000679.2:g.56844164del | GRCh38 |
| NC_000017.10:g.54921525del , CM000679.1:g.54921525del | GRCh37 |
| NC_000017.9:g.52276524del | NCBI36 |
| NG_033888.1:g.15066del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284061.8:c.610del (DGKE) MANE Select | ENSP00000284061.3:p.Thr204GlnfsTer6 | |
| ENST00000648772.1:c.*314-368del (TRIM25) | ENSP00000498158.1:n.*314-368del | |
| ENST00000284061.7:c.610del (DGKE) | ENSP00000284061.3:p.Thr204GlnfsTer6 | |
| ENST00000571084.1:n.146del (DGKE) | ||
| ENST00000572944.1:c.440del (DGKE) | ||
| ENST00000576869.5:n.758del (DGKE) | ||
| NM_003647.2:c.610del (DGKE) | NP_003638.1:p.Thr204GlnfsTer6 | |
| XM_011525394.1:c.664del (DGKE) | XP_011523696.1:p.Thr222GlnfsTer6 | |
| XM_011525395.1:c.664del (DGKE) | XP_011523697.1:p.Thr222GlnfsTer6 | |
| XM_011525396.1:c.664del (DGKE) | XP_011523698.1:p.Thr222GlnfsTer6 | |
| XM_011525397.1:c.664del (DGKE) | XP_011523699.1:p.Thr222GlnfsTer6 | |
| XM_011525398.1:c.154del (DGKE) | XP_011523700.1:p.Thr52GlnfsTer6 | |
| XR_934581.1:n.763del (DGKE) | ||
| XM_011525394.3:c.664del (DGKE) | XP_011523696.1:p.Thr222GlnfsTer6 | |
| XM_011525395.2:c.664del (DGKE) | XP_011523697.1:p.Thr222GlnfsTer6 | |
| XM_011525396.2:c.664del (DGKE) | XP_011523698.1:p.Thr222GlnfsTer6 | |
| XM_017025243.2:c.610del (DGKE) | XP_016880732.1:p.Thr204GlnfsTer6 | |
| XM_017025244.2:c.664del (DGKE) | XP_016880733.1:p.Thr222GlnfsTer6 | |
| XR_001752670.2:n.796del (DGKE) | ||
| XR_001752671.1:n.775del (DGKE) | ||
| XR_001752672.1:n.776del (DGKE) | ||
| XR_002958079.1:n.774del (DGKE) | ||
| NM_003647.3:c.610del (DGKE) MANE Select | NP_003638.1:p.Thr204GlnfsTer6 |