Linked Data
dbSNP Id:
rs760264964
ExAC:
15:44865763 TA / T
gnomAD v2:
15-44865763-TA-T
gnomAD v4:
15-44573565-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44573567del , CM000677.2:g.44573567del | GRCh38 |
| NC_000015.9:g.44865765del , CM000677.1:g.44865765del | GRCh37 |
| NC_000015.8:g.42653057del | NCBI36 |
| NG_008885.1:g.95113del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5867-2908del | ENSP00000453246.2:n.5867-2908del | |
| ENST00000561391.2:n.2414del | ||
| ENST00000682065.1:c.6042del | ENSP00000507025.1:p.Thr2015LeufsTer24 | |
| ENST00000682460.1:c.*2443del | ENSP00000508334.1:n.*2443del | |
| ENST00000682495.1:c.*2678del | ENSP00000507166.1:n.*2678del | |
| ENST00000682669.1:c.5985del | ENSP00000507782.1:p.Thr1996LeufsTer24 | |
| ENST00000683186.1:c.*2949del | ENSP00000507268.1:n.*2949del | |
| ENST00000683496.1:c.6006+1336del | ENSP00000506968.1:n.6006+1336del | |
| ENST00000683734.1:c.*136del | ENSP00000508319.1:n.*136del | |
| ENST00000683753.1:n.5232del | ||
| ENST00000684038.1:c.*2606del | ENSP00000507141.1:n.*2606del | |
| ENST00000684235.1:c.6186del | ENSP00000508295.1:p.Thr2063LeufsTer24 | |
| ENST00000684676.1:c.*335del | ENSP00000506948.1:n.*335del | |
| ENST00000261866.12:c.6186del MANE Select | ENSP00000261866.7:p.Thr2063LeufsTer24 | |
| ENST00000261866.11:c.6186del | ENSP00000261866.7:p.Thr2063LeufsTer24 | |
| ENST00000427534.6:c.6186del | ENSP00000396110.2:p.Thr2063LeufsTer24 | |
| ENST00000535302.6:c.5867-746del | ENSP00000445278.2:n.5867-746del | |
| ENST00000558080.1:n.551del | ||
| ENST00000558319.5:c.6186del | ENSP00000453599.1:p.Thr2063LeufsTer22 | |
| ENST00000559511.5:c.715-2908del | ||
| ENST00000559933.1:n.255del | ||
| ENST00000561268.5:n.118del | ||
| NM_001160227.1:c.5867-746del | NP_001153699.1:n.5867-746del | |
| NM_025137.3:c.6186del | NP_079413.3:p.Thr2063LeufsTer24 | |
| XM_005254695.3:c.5928del | XP_005254752.1:p.Thr1977LeufsTer24 | |
| XM_006720700.1:c.6042del | XP_006720763.1:p.Thr2015LeufsTer24 | |
| XM_017022634.1:c.6186del | XP_016878123.1:p.Thr2063LeufsTer24 | |
| XM_017022636.1:c.3063del | XP_016878125.1:p.Thr1022LeufsTer24 | |
| NM_025137.4:c.6186del MANE Select | NP_079413.3:p.Thr2063LeufsTer24 | |
| NM_001160227.2:c.5867-746del | NP_001153699.1:n.5867-746del |