Linked Data
ClinVar Variation Id:
14470
ClinVar RCV Id:
RCV000015557
dbSNP Id:
rs587776811
ERepo:
CA248627/MONDO:0011071/008
CIViC:
CA248627
PubMed:
PMID:18478040
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34880616_34880623del , CM000683.2:g.34880616_34880623del | GRCh38 |
| NC_000021.8:g.36252913_36252920del , CM000683.1:g.36252913_36252920del | GRCh37 |
| NC_000021.7:g.35174783_35174790del | NCBI36 |
| NG_011402.2:g.1109089_1109096del , LRG_482:g.1109089_1109096del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.442_449del MANE Select | ENSP00000501943.1:p.Thr148HisfsTer9 | |
| ENST00000300305.7:c.442_449del | ENSP00000300305.3:p.Thr148HisfsTer9 | |
| ENST00000344691.8:c.361_368del | ENSP00000340690.4:p.Thr121HisfsTer9 | |
| ENST00000358356.9:c.361_368del | ENSP00000351123.5:p.Thr121HisfsTer9 | |
| ENST00000399237.6:c.406_413del | ENSP00000382182.2:p.Thr136HisfsTer9 | |
| ENST00000399240.5:c.361_368del | ENSP00000382184.1:p.Thr121HisfsTer9 | |
| ENST00000437180.5:c.442_449del | ENSP00000409227.1:p.Thr148HisfsTer9 | |
| ENST00000455571.5:c.403_410del | ENSP00000388189.1:p.Thr135HisfsTer? | |
| ENST00000482318.5:c.*32_*39del | ENSP00000477067.1:n.*32_*39del | |
| NM_001001890.2:c.361_368del | NP_001001890.1:p.Thr121HisfsTer9 | |
| NM_001122607.1:c.361_368del | NP_001116079.1:p.Thr121HisfsTer9 | |
| NM_001754.4:c.442_449del , LRG_482t1:c.442_449del | NP_001745.2:p.Thr148HisfsTer9 | |
| XM_005261068.3:c.406_413del | XP_005261125.1:p.Thr136HisfsTer9 | |
| XM_005261069.3:c.442_449del | XP_005261126.1:p.Thr148HisfsTer9 | |
| XM_011529766.1:c.442_449del | XP_011528068.1:p.Thr148HisfsTer9 | |
| XM_011529767.1:c.403_410del | XP_011528069.1:p.Thr135HisfsTer9 | |
| XM_011529768.1:c.403_410del | XP_011528070.1:p.Thr135HisfsTer9 | |
| XM_011529770.1:c.442_449del | XP_011528072.1:p.Thr148HisfsTer9 | |
| XR_937576.1:n.621_628del | ||
| XM_005261069.4:c.442_449del | XP_005261126.1:p.Thr148HisfsTer9 | |
| XM_011529766.2:c.442_449del | XP_011528068.1:p.Thr148HisfsTer9 | |
| XM_011529767.2:c.403_410del | XP_011528069.1:p.Thr135HisfsTer9 | |
| XM_011529768.2:c.403_410del | XP_011528070.1:p.Thr135HisfsTer9 | |
| XM_011529770.2:c.442_449del | XP_011528072.1:p.Thr148HisfsTer9 | |
| XM_017028487.1:c.289_296del | XP_016883976.1:p.Thr97HisfsTer9 | |
| XR_937576.2:n.668_675del | ||
| NM_001001890.3:c.361_368del | NP_001001890.1:p.Thr121HisfsTer9 | |
| NM_001122607.2:c.361_368del | NP_001116079.1:p.Thr121HisfsTer9 | |
| NM_001754.5:c.442_449del MANE Select | NP_001745.2:p.Thr148HisfsTer9 |