Linked Data
ClinVar Variation Id:
1453891
ClinVar RCV Id:
RCV001941601
dbSNP Id:
rs772879726
ExAC:
15:72639029 TG / T
gnomAD v2:
15-72639029-TG-T
gnomAD v3:
15-72346688-TG-T
gnomAD v4:
15-72346688-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72346689del , CM000677.2:g.72346689del | GRCh38 |
| NC_000015.9:g.72639030del , CM000677.1:g.72639030del | GRCh37 |
| NC_000015.8:g.70426084del | NCBI36 |
| NG_009017.1:g.34491del | |
| NG_009017.2:g.34491del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.1074-364del | ENSP00000457521.2:n.1074-364del | |
| ENST00000682061.1:c.*830del | ENSP00000508316.1:n.*830del | |
| ENST00000682064.1:n.510del | ||
| ENST00000682177.1:c.1211del | ENSP00000507409.1:n.1211del | |
| ENST00000682235.1:n.507del | ||
| ENST00000682461.1:c.1274del | ENSP00000507308.1:n.1274del | |
| ENST00000682653.1:n.1488del | ||
| ENST00000682657.1:c.*484-364del | ENSP00000507753.1:n.*484-364del | |
| ENST00000682721.1:c.*971del | ENSP00000507535.1:n.*971del | |
| ENST00000682843.1:c.*972-364del | ENSP00000508173.1:n.*972-364del | |
| ENST00000683003.1:c.*484-364del | ENSP00000507576.1:n.*484-364del | |
| ENST00000683133.1:c.1352del | ENSP00000508108.1:n.1352del | |
| ENST00000683243.1:c.*484-364del | ENSP00000507042.1:n.*484-364del | |
| ENST00000683463.1:c.1095del | ENSP00000507986.1:p.Tyr365Ter | |
| ENST00000683548.1:n.1105-364del | ||
| ENST00000683579.1:c.*1066del | ENSP00000506867.1:n.*1066del | |
| ENST00000683587.1:n.1178-364del | ||
| ENST00000683681.1:c.1168del | ENSP00000508110.1:p.Gln390ArgfsTer9 | |
| ENST00000683735.1:c.*1045-364del | ENSP00000508336.1:n.*1045-364del | |
| ENST00000683853.1:c.1095del | ENSP00000506834.1:p.Tyr365Ter | |
| ENST00000683860.1:c.1168del | ENSP00000507179.1:p.Gln390ArgfsTer9 | |
| ENST00000683884.1:c.1147-364del | ENSP00000507004.1:n.1147-364del | |
| ENST00000684041.1:c.1168del | ENSP00000508382.1:p.Gln390ArgfsTer9 | |
| ENST00000684125.1:c.1074-364del | ENSP00000507320.1:n.1074-364del | |
| ENST00000684203.1:n.2933del | ||
| ENST00000684231.1:c.*578del | ENSP00000507748.1:n.*578del | |
| ENST00000684263.1:c.*108del | ENSP00000508369.1:n.*108del | |
| ENST00000684305.1:c.1616del | ENSP00000506819.1:n.1616del | |
| ENST00000684415.1:c.*35del | ENSP00000507227.1:n.*35del | |
| ENST00000684520.1:c.1168del | ENSP00000506826.1:p.Gln390ArgfsTer9 | |
| ENST00000684602.1:c.*834del | ENSP00000507996.1:n.*834del | |
| ENST00000684667.1:c.1499del | ENSP00000507003.1:n.1499del | |
| ENST00000268097.10:c.1168del MANE Select | ENSP00000268097.6:p.Gln390ArgfsTer9 | |
| ENST00000268097.9:c.1168del | ENSP00000268097.5:p.Gln390ArgfsTer9 | |
| ENST00000379915.4:c.413-364del | ENSP00000478716.1:n.413-364del | |
| ENST00000563762.5:c.826-364del | ENSP00000456346.1:n.826-364del | |
| ENST00000566304.5:c.1201del | ENSP00000455114.1:p.Gln401ArgfsTer9 | |
| ENST00000566672.5:c.*578del | ENSP00000457037.1:n.*578del | |
| ENST00000567027.5:c.946-364del | ||
| ENST00000567159.5:c.1168del | ENSP00000456489.1:p.Gln390ArgfsTer9 | |
| ENST00000567411.5:c.*689del | ENSP00000455545.1:n.*689del | |
| ENST00000568777.5:n.6551-364del | ||
| ENST00000569410.5:c.1095del | ENSP00000457125.1:p.Tyr365Ter | |
| NM_000520.4:c.1168del | NP_000511.2:p.Gln390ArgfsTer9 | |
| NM_000520.5:c.1168del | NP_000511.2:p.Gln390ArgfsTer9 | |
| NM_001318825.1:c.1201del | NP_001305754.1:p.Gln401ArgfsTer9 | |
| NR_134869.1:n.1575-364del | ||
| NM_000520.6:c.1168del MANE Select | NP_000511.2:p.Gln390ArgfsTer9 | |
| NM_001318825.2:c.1201del | NP_001305754.1:p.Gln401ArgfsTer9 | |
| NR_134869.2:n.1116-364del | ||
| NR_134869.3:n.1116-364del |