ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
7.9e-7 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
3e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.98424338del , CM000672.2:g.98424338del | GRCh38 |
| NC_000010.10:g.100184095del , CM000672.1:g.100184095del | GRCh37 |
| NC_000010.9:g.100174085del | NCBI36 |
| NG_009646.1:g.27613del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699112.1:c.1015del | ENSP00000514137.1:p.Ser339ValfsTer16 | |
| ENST00000699113.1:c.*753del | ENSP00000514138.1:n.*753del | |
| ENST00000699114.1:n.1262del | ||
| ENST00000699115.1:c.1108del | ENSP00000514139.1:p.Ser370AlafsTer? | |
| ENST00000699116.1:n.3334del | ||
| ENST00000699117.1:n.2027del | ||
| ENST00000699118.1:c.988del | ENSP00000514140.1:p.Ser330ValfsTer16 | |
| ENST00000699119.1:c.*566del | ENSP00000514141.1:n.*566del | |
| ENST00000699120.1:c.*833del | ENSP00000514142.1:n.*833del | |
| ENST00000699121.1:c.*734del | ENSP00000514143.1:n.*734del | |
| ENST00000699122.1:c.802del | ENSP00000514144.1:p.Ser268ValfsTer16 | |
| ENST00000699123.1:c.*1143del | ENSP00000514145.1:n.*1143del | |
| ENST00000699124.1:n.2694del | ||
| ENST00000699125.1:c.1405del | ENSP00000514146.1:p.Ser469ValfsTer16 | |
| ENST00000699126.1:n.2847del | ||
| ENST00000699127.1:n.1618del | ||
| ENST00000699128.1:c.*514del | ENSP00000514147.1:n.*514del | |
| ENST00000699129.1:c.*514del | ENSP00000514148.1:n.*514del | |
| ENST00000699130.1:n.2748del | ||
| ENST00000699131.1:c.1207del | ENSP00000514149.1:p.Ser403ValfsTer16 | |
| ENST00000699132.1:n.3670del | ||
| ENST00000699133.1:c.1108del | ENSP00000514150.1:p.Ser370ValfsTer16 | |
| ENST00000699134.1:c.1633del | ENSP00000514151.1:p.Ser545ValfsTer16 | |
| ENST00000699135.1:c.*585del | ENSP00000514152.1:n.*585del | |
| ENST00000699136.1:c.1276del | ENSP00000514153.1:p.Ser426ValfsTer16 | |
| ENST00000699137.1:c.988del | ENSP00000514154.1:p.Ser330ValfsTer16 | |
| ENST00000699138.1:c.*833del | ENSP00000514155.1:n.*833del | |
| ENST00000699139.1:c.1114del | ENSP00000514156.1:p.Ser372ValfsTer16 | |
| ENST00000699140.1:c.1276del | ENSP00000514157.1:p.Ser426ValfsTer16 | |
| ENST00000699141.1:c.*833del | ENSP00000514158.1:n.*833del | |
| ENST00000699142.1:c.1375del | ENSP00000514159.1:p.Ser459ValfsTer16 | |
| ENST00000699143.1:c.*734del | ENSP00000514160.1:n.*734del | |
| ENST00000699144.1:c.*833del | ENSP00000514161.1:n.*833del | |
| ENST00000699145.1:c.1375del | ENSP00000514162.1:p.Ser459ValfsTer16 | |
| ENST00000699146.1:c.1375del | ENSP00000514164.1:p.Ser459ValfsTer16 | |
| ENST00000699147.1:c.*833del | ENSP00000514165.1:n.*833del | |
| ENST00000699148.1:n.156del | ||
| ENST00000699159.1:c.*734del | ENSP00000514167.1:n.*734del | |
| ENST00000361490.9:c.1375del MANE Select | ENSP00000355310.4:p.Ser459ValfsTer16 | |
| ENST00000325103.10:c.1375del | ENSP00000326649.6:p.Ser459ValfsTer16 | |
| ENST00000359632.7:c.760del | ENSP00000352652.3:p.Ser254ValfsTer16 | |
| ENST00000361490.8:c.1375del | ENSP00000355310.4:p.Ser459ValfsTer16 | |
| ENST00000467246.5:n.1514del | ||
| ENST00000470095.5:n.592del | ||
| ENST00000478087.5:n.753del | ||
| ENST00000497527.1:n.506del | ||
| ENST00000613394.4:c.1375del | ENSP00000477926.1:p.Ser459ValfsTer16 | |
| NM_000195.3:c.1375del | NP_000186.2:p.Ser459ValfsTer16 | |
| NM_000195.4:c.1375del | NP_000186.2:p.Ser459ValfsTer16 | |
| NM_001311345.1:c.403del | NP_001298274.1:p.Ser135ValfsTer16 | |
| XM_005269755.2:c.1375del | XP_005269812.1:p.Ser459ValfsTer16 | |
| XM_005269756.2:c.1375del | XP_005269813.1:p.Ser459ValfsTer16 | |
| XM_005269757.3:c.1375del | XP_005269814.1:p.Ser459ValfsTer16 | |
| XM_005269758.1:c.1276del | XP_005269815.1:p.Ser426ValfsTer16 | |
| XM_005269759.1:c.1006del | XP_005269816.1:p.Ser336ValfsTer16 | |
| XM_005269760.3:c.403del | XP_005269817.1:p.Ser135ValfsTer16 | |
| XM_005269761.1:c.403del | XP_005269818.1:p.Ser135ValfsTer16 | |
| XM_006717818.1:c.1114del | XP_006717881.1:p.Ser372ValfsTer16 | |
| NM_001322476.1:c.1375del | NP_001309405.1:p.Ser459ValfsTer16 | |
| NM_001322477.1:c.1375del | NP_001309406.1:p.Ser459ValfsTer16 | |
| NM_001322478.1:c.1276del | NP_001309407.1:p.Ser426ValfsTer16 | |
| NM_001322479.1:c.1276del | NP_001309408.1:p.Ser426ValfsTer16 | |
| NM_001322480.1:c.1114del | NP_001309409.1:p.Ser372ValfsTer16 | |
| NM_001322481.1:c.1114del | NP_001309410.1:p.Ser372ValfsTer16 | |
| NM_001322482.1:c.1015del | NP_001309411.1:p.Ser339ValfsTer16 | |
| NM_001322483.1:c.1006del | NP_001309412.1:p.Ser336ValfsTer16 | |
| NM_001322484.1:c.1006del | NP_001309413.1:p.Ser336ValfsTer16 | |
| NM_001322485.1:c.907del | NP_001309414.1:p.Ser303ValfsTer16 | |
| NM_001322487.1:c.403del | NP_001309416.1:p.Ser135ValfsTer16 | |
| NM_001322489.1:c.403del | NP_001309418.1:p.Ser135ValfsTer16 | |
| XM_005269757.4:c.1375del | XP_005269814.1:p.Ser459ValfsTer16 | |
| XM_017016170.1:c.1015del | XP_016871659.1:p.Ser339ValfsTer16 | |
| XM_017016171.2:c.907del | XP_016871660.1:p.Ser303ValfsTer16 | |
| XM_017016172.2:c.403del | XP_016871661.1:p.Ser135ValfsTer16 | |
| XM_024447971.1:c.1405del | XP_024303739.1:p.Ser469ValfsTer16 | |
| XM_024447972.1:c.403del | XP_024303740.1:p.Ser135ValfsTer16 | |
| XR_001747098.1:n.1644del | ||
| XR_001747099.2:n.1644del | ||
| XR_001747100.2:n.1644del | ||
| XR_001747101.2:n.1545del | ||
| NM_000195.5:c.1375del MANE Select | NP_000186.2:p.Ser459ValfsTer16 | |
| NM_001311345.2:c.403del | NP_001298274.1:p.Ser135ValfsTer16 | |
| NM_001322476.2:c.1375del | NP_001309405.1:p.Ser459ValfsTer16 | |
| NM_001322477.2:c.1375del | NP_001309406.1:p.Ser459ValfsTer16 | |
| NM_001322478.2:c.1276del | NP_001309407.1:p.Ser426ValfsTer16 | |
| NM_001322479.2:c.1276del | NP_001309408.1:p.Ser426ValfsTer16 | |
| NM_001322480.2:c.1114del | NP_001309409.1:p.Ser372ValfsTer16 | |
| NM_001322481.2:c.1114del | NP_001309410.1:p.Ser372ValfsTer16 | |
| NM_001322482.2:c.1015del | NP_001309411.1:p.Ser339ValfsTer16 | |
| NM_001322483.2:c.1006del | NP_001309412.1:p.Ser336ValfsTer16 | |
| NM_001322484.2:c.1006del | NP_001309413.1:p.Ser336ValfsTer16 | |
| NM_001322485.2:c.907del | NP_001309414.1:p.Ser303ValfsTer16 | |
| NM_001322487.2:c.403del | NP_001309416.1:p.Ser135ValfsTer16 | |
| NM_001322489.2:c.403del | NP_001309418.1:p.Ser135ValfsTer16 |