Linked Data
ClinVar Variation Id:
208383
ClinVar RCV Id:
RCV000202350
dbSNP Id:
rs863223347
PubMed:
PMID:26508570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28981417_28981425del , CM000679.2:g.28981417_28981425del | GRCh38 |
| NC_000017.10:g.27308435_27308443del , CM000679.1:g.27308435_27308443del | GRCh37 |
| NC_000017.9:g.24332561_24332569del | NCBI36 |
| NG_051223.1:g.30024_30032del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317338.17:c.678_686del (SEZ6) MANE Select | ENSP00000312942.11:p.Thr227_Thr229del | |
| ENST00000317338.16:c.678_686del (SEZ6) | ENSP00000312942.11:p.Thr227_Thr229del | |
| ENST00000335960.10:c.678_686del (SEZ6) | ENSP00000337407.7:p.Thr227_Thr229del | |
| ENST00000360295.13:c.678_686del (SEZ6) | ENSP00000353440.9:p.Thr227_Thr229del | |
| ENST00000442608.7:c.678_686del (SEZ6) | ENSP00000403784.3:p.Thr227_Thr229del | |
| ENST00000540419.5:c.176_184del (SEZ6) | ||
| ENST00000540632.6:c.456_464del (SEZ6) | ENSP00000437650.2:p.Thr153_Thr155del | |
| ENST00000577182.5:n.83+28009_83+28017del (PIPOX) | ||
| ENST00000578748.6:n.641+28009_641+28017del (PIPOX) | ||
| ENST00000580241.5:n.227+28009_227+28017del (PIPOX) | ||
| ENST00000580383.5:n.75+30723_75+30731del (PIPOX) | ||
| ENST00000583215.5:n.97+28009_97+28017del (PIPOX) | ||
| NM_001098635.1:c.678_686del (SEZ6) | NP_001092105.1:p.Thr227_Thr229del | |
| NM_001290202.1:c.303_311del (SEZ6) | NP_001277131.1:p.Thr102_Thr104del | |
| NM_178860.4:c.678_686del (SEZ6) | NP_849191.3:p.Thr227_Thr229del | |
| XM_011524315.1:c.678_686del (SEZ6) | XP_011522617.1:p.Thr227_Thr229del | |
| XM_011524316.1:c.678_686del (SEZ6) | XP_011522618.1:p.Thr227_Thr229del | |
| XM_011524317.1:c.678_686del (SEZ6) | XP_011522619.1:p.Thr227_Thr229del | |
| XM_011524315.2:c.678_686del (SEZ6) | XP_011522617.1:p.Thr227_Thr229del | |
| XM_011524317.3:c.678_686del (SEZ6) | XP_011522619.1:p.Thr227_Thr229del | |
| XR_001752822.1:n.750-11405_750-11397del | ||
| NM_001098635.2:c.678_686del (SEZ6) | NP_001092105.1:p.Thr227_Thr229del | |
| NM_178860.5:c.678_686del (SEZ6) MANE Select | NP_849191.3:p.Thr227_Thr229del | |
| NM_001290202.2:c.303_311del (SEZ6) | NP_001277131.1:p.Thr102_Thr104del |