Linked Data
ClinVar Variation Id:
187878
dbSNP Id:
rs746353274
ExAC:
1:11856397 CCTT / C
gnomAD v2:
1-11856397-CCTT-C
gnomAD v3:
1-11796340-CCTT-C
gnomAD v4:
1-11796340-CCTT-C
PubMed:
PMID:25736335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11796342_11796344del , CM000663.2:g.11796342_11796344del | GRCh38 |
| NC_000001.10:g.11856399_11856401del , CM000663.1:g.11856399_11856401del | GRCh37 |
| NC_000001.9:g.11778986_11778988del | NCBI36 |
| NG_013351.1:g.14761_14763del , LRG_726:g.14761_14763del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376486.3:c.643_645del | ENSP00000365669.3:p.Lys215del | |
| ENST00000376585.6:c.766_768del | ENSP00000365770.1:p.Lys256del | |
| ENST00000376590.9:c.643_645del MANE Select | ENSP00000365775.3:p.Lys215del | |
| ENST00000376592.6:c.643_645del | ENSP00000365777.1:p.Lys215del | |
| ENST00000423400.7:c.763_765del | ENSP00000398908.3:p.Lys255del | |
| ENST00000641407.1:c.643_645del | ENSP00000493098.1:p.Lys215del | |
| ENST00000641446.1:c.643_645del | ENSP00000493262.1:p.Lys215del | |
| ENST00000641721.1:n.644-995_644-993del | ||
| ENST00000641747.1:c.*155_*157del | ENSP00000493116.1:n.*155_*157del | |
| ENST00000641759.1:n.778_780del | ||
| ENST00000641805.1:n.926_928del | ||
| ENST00000641820.1:c.-93_-91del | ENSP00000492937.1:n.-93_-91del | |
| ENST00000376583.7:c.766_768del | ENSP00000365767.3:p.Lys256del | |
| ENST00000376585.5:c.766_768del | ENSP00000365770.1:p.Lys256del | |
| ENST00000376590.7:c.643_645del | ENSP00000365775.3:p.Lys215del | |
| ENST00000376592.5:c.643_645del | ENSP00000365777.1:p.Lys215del | |
| NM_005957.4:c.643_645del , LRG_726t1:c.643_645del | NP_005948.3:p.Lys215del | |
| XM_005263458.2:c.766_768del | XP_005263515.1:p.Lys256del | |
| XM_005263460.3:c.643_645del | XP_005263517.1:p.Lys215del | |
| XM_005263461.3:c.643_645del | XP_005263518.1:p.Lys215del | |
| XM_005263462.3:c.643_645del | XP_005263519.1:p.Lys215del | |
| XM_005263463.2:c.397_399del | XP_005263520.1:p.Lys133del | |
| XM_011541495.1:c.763_765del | XP_011539797.1:p.Lys255del | |
| XM_011541496.1:c.766_768del | XP_011539798.1:p.Lys256del | |
| NM_001330358.1:c.766_768del | NP_001317287.1:p.Lys256del | |
| XM_005263460.5:c.643_645del | XP_005263517.1:p.Lys215del | |
| XM_005263462.4:c.643_645del | XP_005263519.1:p.Lys215del | |
| XM_005263463.4:c.397_399del | XP_005263520.1:p.Lys133del | |
| XM_011541495.3:c.763_765del | XP_011539797.1:p.Lys255del | |
| XM_011541496.3:c.766_768del | XP_011539798.1:p.Lys256del | |
| XM_017001328.2:c.766_768del | XP_016856817.1:p.Lys256del | |
| XM_024447198.1:c.397_399del | XP_024302966.1:p.Lys133del | |
| XR_002956640.1:n.1510_1512del | ||
| NM_005957.5:c.643_645del MANE Select | NP_005948.3:p.Lys215del | |
| NM_001330358.2:c.766_768del | NP_001317287.1:p.Lys256del |