ENST00000306262.10:c.*50del
|
ENSP00000306247.6:n.*50del
|
|
ENST00000377332.8:c.306del
|
ENSP00000366549.4:p.Asp103ThrfsTer3
|
|
ENST00000393805.6:c.222del
|
ENSP00000377394.1:p.Asp75ThrfsTer3
|
|
ENST00000393808.8:c.237del
|
ENSP00000377397.3:p.Asp80ThrfsTer3
|
|
ENST00000433665.6:c.*349del
|
ENSP00000408635.1:n.*349del
|
|
ENST00000461199.6:n.758del
|
|
|
ENST00000461892.6:n.311del
|
|
|
ENST00000473122.6:c.306del
|
ENSP00000491314.1:p.Asp103ThrfsTer3
|
|
ENST00000484728.6:n.317del
|
|
|
ENST00000638178.1:c.222del
|
ENSP00000492103.1:p.Asp75ThrfsTer3
|
|
ENST00000638227.1:c.*349del
|
ENSP00000492602.1:n.*349del
|
|
ENST00000638288.1:c.222del
|
ENSP00000491699.1:p.Asp75ThrfsTer3
|
|
ENST00000638321.1:c.203del
|
|
|
ENST00000638484.1:c.*349del
|
ENSP00000492635.1:n.*349del
|
|
ENST00000638523.1:c.203del
|
|
|
ENST00000638542.1:c.206+2169del
|
ENSP00000492468.1:n.206+2169del
|
|
ENST00000638572.2:c.306del
MANE Select
|
ENSP00000491316.1:p.Asp103ThrfsTer3
|
|
ENST00000638581.1:n.332del
|
|
|
ENST00000638659.1:c.492del
|
|
|
ENST00000638678.1:c.304del
|
|
|
ENST00000638855.1:c.206+2169del
|
ENSP00000490979.1:n.206+2169del
|
|
ENST00000638885.1:c.306del
|
ENSP00000492209.1:p.Asp103ThrfsTer3
|
|
ENST00000638956.1:c.306del
|
ENSP00000492097.1:p.Asp103ThrfsTer3
|
|
ENST00000638986.1:c.222del
|
ENSP00000491853.1:p.Asp75ThrfsTer3
|
|
ENST00000639119.1:c.306del
|
ENSP00000492045.1:p.Asp103ThrfsTer3
|
|
ENST00000639184.1:c.222del
|
ENSP00000492305.1:p.Asp75ThrfsTer3
|
|
ENST00000639202.1:c.189del
|
ENSP00000492710.1:p.Asp64ThrfsTer3
|
|
ENST00000639216.1:n.328del
|
|
|
ENST00000639305.1:c.304del
|
|
|
ENST00000639311.1:c.306del
|
ENSP00000491398.1:p.Asp103ThrfsTer3
|
|
ENST00000639421.1:c.493del
|
ENSP00000491029.1:n.493del
|
|
ENST00000639432.1:c.222del
|
ENSP00000491828.1:p.Asp75ThrfsTer3
|
|
ENST00000639519.1:c.108del
|
ENSP00000491857.1:p.Asp37ThrfsTer3
|
|
ENST00000639541.1:c.306del
|
ENSP00000492280.1:p.Asp103ThrfsTer3
|
|
ENST00000639608.1:c.306del
|
ENSP00000492473.1:p.Asp103ThrfsTer3
|
|
ENST00000639690.1:c.406del
|
ENSP00000491917.1:n.406del
|
|
ENST00000639820.1:c.*563del
|
ENSP00000491802.1:n.*563del
|
|
ENST00000639945.1:c.306del
|
ENSP00000492866.1:p.Asp103ThrfsTer3
|
|
ENST00000639981.1:c.212del
|
|
|
ENST00000640024.1:c.306del
|
ENSP00000491238.1:p.Asp103ThrfsTer3
|
|
ENST00000640222.1:c.227del
|
|
|
ENST00000640295.1:c.493del
|
ENSP00000491027.1:n.493del
|
|
ENST00000640314.1:c.469del
|
ENSP00000491315.1:n.469del
|
|
ENST00000640315.1:c.282del
|
ENSP00000492089.1:p.Asp95ThrfsTer3
|
|
ENST00000640322.1:c.222del
|
ENSP00000491564.1:p.Asp75ThrfsTer3
|
|
ENST00000640378.1:c.39del
|
ENSP00000492030.1:p.Asp14ThrfsTer3
|
|
ENST00000640418.1:c.363del
|
ENSP00000492098.1:p.Asp122ThrfsTer3
|
|
ENST00000640425.1:c.289del
|
|
|
ENST00000640572.1:c.289del
|
|
|
ENST00000640594.1:c.*349del
|
ENSP00000491356.1:n.*349del
|
|
ENST00000640763.1:c.25del
|
|
|
ENST00000640835.1:c.188del
|
|
|
ENST00000640849.1:c.201del
|
ENSP00000491701.1:p.Asp68ThrfsTer3
|
|
ENST00000640903.1:c.392del
|
|
|
ENST00000640982.1:c.222del
|
ENSP00000492299.1:p.Asp75ThrfsTer3
|
|
ENST00000640992.1:c.222del
|
ENSP00000492753.1:p.Asp75ThrfsTer3
|
|
ENST00000306262.9:c.306del
|
ENSP00000306247.5:p.Asp103ThrfsTer3
|
|
ENST00000377332.7:c.306del
|
ENSP00000366549.3:p.Asp103ThrfsTer3
|
|
ENST00000393805.5:c.222del
|
ENSP00000377394.1:p.Asp75ThrfsTer3
|
|
ENST00000393808.7:c.237del
|
ENSP00000377397.3:p.Asp80ThrfsTer3
|
|
ENST00000433665.5:c.*349del
|
ENSP00000408635.1:n.*349del
|
|
ENST00000455892.1:c.222del
|
ENSP00000401375.1:p.Asp75ThrfsTer3
|
|
ENST00000461199.5:n.311del
|
|
|
ENST00000461892.5:n.309del
|
|
|
ENST00000473122.5:n.278del
|
|
|
ENST00000484728.5:n.312del
|
|
|
NM_001042437.1:c.237del
|
NP_001035902.1:p.Asp80ThrfsTer3
|
|
NM_003896.3:c.306del
|
NP_003887.3:p.Asp103ThrfsTer3
|
|
XM_005264630.3:c.306del
|
XP_005264687.1:p.Asp103ThrfsTer3
|
|
XM_011533143.1:c.-256del
|
XP_011531445.1:n.-256del
|
|
XR_939734.1:n.391del
|
|
|
XR_939735.1:n.391del
|
|
|
XR_939736.1:n.391del
|
|
|
NM_001354223.1:c.-256del
|
NP_001341152.1:n.-256del
|
|
NM_001354224.1:c.-319del
|
NP_001341153.1:n.-319del
|
|
NM_001354226.1:c.-256del
|
NP_001341155.1:n.-256del
|
|
NM_001354227.1:c.222del
|
NP_001341156.1:p.Asp75ThrfsTer3
|
|
NM_001354229.1:c.222del
|
NP_001341158.1:p.Asp75ThrfsTer3
|
|
NM_001354233.1:c.-696del
|
NP_001341162.1:n.-696del
|
|
NM_001354234.1:c.-660del
|
NP_001341163.1:n.-660del
|
|
NM_001354238.1:c.222del
|
NP_001341167.1:p.Asp75ThrfsTer3
|
|
NM_001363847.1:c.306del
|
NP_001350776.1:p.Asp103ThrfsTer3
|
|
XM_017005202.2:c.222del
|
XP_016860691.1:p.Asp75ThrfsTer3
|
|
XM_017005203.2:c.-759del
|
XP_016860692.1:n.-759del
|
|
XM_017005204.2:c.-759del
|
XP_016860693.1:n.-759del
|
|
XM_017005205.2:c.-751del
|
XP_016860694.1:n.-751del
|
|
XM_017005206.2:c.-660del
|
XP_016860695.1:n.-660del
|
|
XM_017005208.2:c.-660del
|
XP_016860697.1:n.-660del
|
|
XM_017005209.1:c.-311del
|
XP_016860698.1:n.-311del
|
|
XM_017005212.2:c.-220del
|
XP_016860701.1:n.-220del
|
|
XM_017005214.2:c.-256del
|
XP_016860703.1:n.-256del
|
|
XR_001739019.1:n.391del
|
|
|
XR_001739020.1:n.391del
|
|
|
XR_001739021.1:n.391del
|
|
|
NM_003896.4:c.306del
MANE Select
|
NP_003887.3:p.Asp103ThrfsTer3
|
|
NM_001042437.2:c.237del
|
NP_001035902.1:p.Asp80ThrfsTer3
|
|
NM_001354223.2:c.-256del
|
NP_001341152.1:n.-256del
|
|
NM_001354224.2:c.-319del
|
NP_001341153.1:n.-319del
|
|
NM_001354226.2:c.-256del
|
NP_001341155.1:n.-256del
|
|
NM_001354227.2:c.222del
|
NP_001341156.1:p.Asp75ThrfsTer3
|
|
NM_001354229.2:c.222del
|
NP_001341158.1:p.Asp75ThrfsTer3
|
|
NM_001354233.2:c.-696del
|
NP_001341162.1:n.-696del
|
|