Linked Data
ClinVar Variation Id:
225480
ClinVar RCV Id:
RCV000490287
dbSNP Id:
rs1085307097
gnomAD v4:
15-44620233-AG-A
PubMed:
PMID:17322883
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44620235del , CM000677.2:g.44620235del | GRCh38 |
| NC_000015.9:g.44912433del , CM000677.1:g.44912433del | GRCh37 |
| NC_000015.8:g.42699725del | NCBI36 |
| NG_008885.1:g.48445del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559511.6:c.2790del | ENSP00000453246.2:p.Cys931ValfsTer5 | |
| ENST00000682065.1:c.2790del | ENSP00000507025.1:p.Cys931ValfsTer5 | |
| ENST00000682460.1:c.2790del | ENSP00000508334.1:p.Cys931ValfsTer5 | |
| ENST00000682495.1:c.2790del | ENSP00000507166.1:p.Cys931ValfsTer5 | |
| ENST00000682669.1:c.2790del | ENSP00000507782.1:p.Cys931ValfsTer5 | |
| ENST00000682788.1:c.2790del | ENSP00000508089.1:p.Cys931ValfsTer5 | |
| ENST00000682915.1:c.2790del | ENSP00000507493.1:p.Cys931ValfsTer5 | |
| ENST00000683121.1:c.2790del | ENSP00000507557.1:p.Cys931ValfsTer5 | |
| ENST00000683186.1:c.2790del | ENSP00000507268.1:p.Cys931ValfsTer5 | |
| ENST00000683255.1:c.2790del | ENSP00000508340.1:p.Cys931ValfsTer5 | |
| ENST00000683496.1:c.2790del | ENSP00000506968.1:p.Cys931ValfsTer5 | |
| ENST00000683573.1:c.2790del | ENSP00000508031.1:p.Cys931ValfsTer5 | |
| ENST00000683734.1:c.2790del | ENSP00000508319.1:p.Cys931ValfsTer5 | |
| ENST00000683753.1:n.1914del | ||
| ENST00000684038.1:c.2532del | ENSP00000507141.1:p.Cys845ValfsTer5 | |
| ENST00000684235.1:c.2790del | ENSP00000508295.1:p.Cys931ValfsTer5 | |
| ENST00000684676.1:c.2790del | ENSP00000506948.1:p.Cys931ValfsTer5 | |
| ENST00000261866.12:c.2790del MANE Select | ENSP00000261866.7:p.Cys931ValfsTer5 | |
| ENST00000261866.11:c.2790del | ENSP00000261866.7:p.Cys931ValfsTer5 | |
| ENST00000427534.6:c.2790del | ENSP00000396110.2:p.Cys931ValfsTer5 | |
| ENST00000535302.6:c.2790del | ENSP00000445278.2:p.Cys931ValfsTer5 | |
| ENST00000558319.5:c.2790del | ENSP00000453599.1:p.Cys931ValfsTer5 | |
| ENST00000558989.1:n.1633del | ||
| ENST00000560435.1:c.72del | ENSP00000452629.1:p.Cys25ValfsTer5 | |
| NM_001160227.1:c.2790del | NP_001153699.1:p.Cys931ValfsTer5 | |
| NM_025137.3:c.2790del | NP_079413.3:p.Cys931ValfsTer5 | |
| XM_005254695.3:c.2532del | XP_005254752.1:p.Cys845ValfsTer5 | |
| XM_006720700.1:c.2790del | XP_006720763.1:p.Cys931ValfsTer5 | |
| XM_006720701.2:c.2790del | XP_006720764.1:p.Cys931ValfsTer5 | |
| XM_011522093.1:c.2790del | XP_011520395.1:p.Cys931ValfsTer5 | |
| XR_931917.1:n.2821del | ||
| XM_006720701.3:c.2790del | XP_006720764.1:p.Cys931ValfsTer5 | |
| XM_017022634.1:c.2790del | XP_016878123.1:p.Cys931ValfsTer5 | |
| XM_017022635.2:c.2790del | XP_016878124.1:p.Cys931ValfsTer5 | |
| XM_017022636.1:c.-227del | XP_016878125.1:n.-227del | |
| XR_001751402.1:n.2821del | ||
| XR_931917.2:n.2821del | ||
| NM_025137.4:c.2790del MANE Select | NP_079413.3:p.Cys931ValfsTer5 | |
| NM_001160227.2:c.2790del | NP_001153699.1:p.Cys931ValfsTer5 |