|
ENST00000306262.10:c.*54del
|
ENSP00000306247.6:n.*54del
|
|
|
ENST00000377332.8:c.310del
|
ENSP00000366549.4:p.His104MetfsTer2
|
|
|
ENST00000393805.6:c.226del
|
ENSP00000377394.1:p.His76MetfsTer2
|
|
|
ENST00000393808.8:c.241del
|
ENSP00000377397.3:p.His81MetfsTer2
|
|
|
ENST00000433665.6:c.*353del
|
ENSP00000408635.1:n.*353del
|
|
|
ENST00000461199.6:n.762del
|
|
|
|
ENST00000461892.6:n.315del
|
|
|
|
ENST00000473122.6:c.310del
|
ENSP00000491314.1:p.His104MetfsTer2
|
|
|
ENST00000484728.6:n.321del
|
|
|
|
ENST00000638178.1:c.226del
|
ENSP00000492103.1:p.His76MetfsTer2
|
|
|
ENST00000638227.1:c.*353del
|
ENSP00000492602.1:n.*353del
|
|
|
ENST00000638288.1:c.226del
|
ENSP00000491699.1:p.His76MetfsTer2
|
|
|
ENST00000638321.1:c.207del
|
|
|
|
ENST00000638484.1:c.*353del
|
ENSP00000492635.1:n.*353del
|
|
|
ENST00000638523.1:c.207del
|
|
|
|
ENST00000638542.1:c.206+2173del
|
ENSP00000492468.1:n.206+2173del
|
|
|
ENST00000638572.2:c.310del
MANE Select
|
ENSP00000491316.1:p.His104MetfsTer2
|
|
|
ENST00000638581.1:n.336del
|
|
|
|
ENST00000638659.1:c.496del
|
|
|
|
ENST00000638678.1:c.308del
|
|
|
|
ENST00000638855.1:c.206+2173del
|
ENSP00000490979.1:n.206+2173del
|
|
|
ENST00000638885.1:c.310del
|
ENSP00000492209.1:p.His104MetfsTer2
|
|
|
ENST00000638956.1:c.310del
|
ENSP00000492097.1:p.His104MetfsTer2
|
|
|
ENST00000638986.1:c.226del
|
ENSP00000491853.1:p.His76MetfsTer2
|
|
|
ENST00000639119.1:c.310del
|
ENSP00000492045.1:p.His104MetfsTer2
|
|
|
ENST00000639184.1:c.226del
|
ENSP00000492305.1:p.His76MetfsTer2
|
|
|
ENST00000639202.1:c.193del
|
ENSP00000492710.1:p.His65MetfsTer2
|
|
|
ENST00000639216.1:n.332del
|
|
|
|
ENST00000639305.1:c.308del
|
|
|
|
ENST00000639311.1:c.310del
|
ENSP00000491398.1:p.His104MetfsTer2
|
|
|
ENST00000639421.1:c.497del
|
ENSP00000491029.1:n.497del
|
|
|
ENST00000639432.1:c.226del
|
ENSP00000491828.1:p.His76MetfsTer2
|
|
|
ENST00000639519.1:c.112del
|
ENSP00000491857.1:p.His38MetfsTer2
|
|
|
ENST00000639541.1:c.310del
|
ENSP00000492280.1:p.His104MetfsTer2
|
|
|
ENST00000639608.1:c.310del
|
ENSP00000492473.1:p.His104MetfsTer2
|
|
|
ENST00000639690.1:c.410del
|
ENSP00000491917.1:n.410del
|
|
|
ENST00000639820.1:c.*567del
|
ENSP00000491802.1:n.*567del
|
|
|
ENST00000639945.1:c.310del
|
ENSP00000492866.1:p.His104MetfsTer2
|
|
|
ENST00000639981.1:c.216del
|
|
|
|
ENST00000640024.1:c.310del
|
ENSP00000491238.1:p.His104MetfsTer2
|
|
|
ENST00000640222.1:c.231del
|
|
|
|
ENST00000640295.1:c.497del
|
ENSP00000491027.1:n.497del
|
|
|
ENST00000640314.1:c.473del
|
ENSP00000491315.1:n.473del
|
|
|
ENST00000640315.1:c.286del
|
ENSP00000492089.1:p.His96MetfsTer2
|
|
|
ENST00000640322.1:c.226del
|
ENSP00000491564.1:p.His76MetfsTer2
|
|
|
ENST00000640378.1:c.43del
|
ENSP00000492030.1:p.His15MetfsTer2
|
|
|
ENST00000640418.1:c.367del
|
ENSP00000492098.1:p.His123MetfsTer2
|
|
|
ENST00000640425.1:c.293del
|
|
|
|
ENST00000640572.1:c.293del
|
|
|
|
ENST00000640594.1:c.*353del
|
ENSP00000491356.1:n.*353del
|
|
|
ENST00000640763.1:c.29del
|
|
|
|
ENST00000640835.1:c.192del
|
|
|
|
ENST00000640849.1:c.205del
|
ENSP00000491701.1:p.His69MetfsTer2
|
|
|
ENST00000640903.1:c.396del
|
|
|
|
ENST00000640982.1:c.226del
|
ENSP00000492299.1:p.His76MetfsTer2
|
|
|
ENST00000640992.1:c.226del
|
ENSP00000492753.1:p.His76MetfsTer2
|
|
|
ENST00000306262.9:c.310del
|
ENSP00000306247.5:p.His104MetfsTer2
|
|
|
ENST00000377332.7:c.310del
|
ENSP00000366549.3:p.His104MetfsTer2
|
|
|
ENST00000393805.5:c.226del
|
ENSP00000377394.1:p.His76MetfsTer2
|
|
|
ENST00000393808.7:c.241del
|
ENSP00000377397.3:p.His81MetfsTer2
|
|
|
ENST00000433665.5:c.*353del
|
ENSP00000408635.1:n.*353del
|
|
|
ENST00000455892.1:c.226del
|
ENSP00000401375.1:p.His76MetfsTer2
|
|
|
ENST00000461199.5:n.315del
|
|
|
|
ENST00000461892.5:n.313del
|
|
|
|
ENST00000473122.5:n.282del
|
|
|
|
ENST00000484728.5:n.316del
|
|
|
|
NM_001042437.1:c.241del
|
NP_001035902.1:p.His81MetfsTer2
|
|
|
NM_003896.3:c.310del
|
NP_003887.3:p.His104MetfsTer2
|
|
|
XM_005264630.3:c.310del
|
XP_005264687.1:p.His104MetfsTer2
|
|
|
XM_011533143.1:c.-252del
|
XP_011531445.1:n.-252del
|
|
|
XR_939734.1:n.395del
|
|
|
|
XR_939735.1:n.395del
|
|
|
|
XR_939736.1:n.395del
|
|
|
|
NM_001354223.1:c.-252del
|
NP_001341152.1:n.-252del
|
|
|
NM_001354224.1:c.-315del
|
NP_001341153.1:n.-315del
|
|
|
NM_001354226.1:c.-252del
|
NP_001341155.1:n.-252del
|
|
|
NM_001354227.1:c.226del
|
NP_001341156.1:p.His76MetfsTer2
|
|
|
NM_001354229.1:c.226del
|
NP_001341158.1:p.His76MetfsTer2
|
|
|
NM_001354233.1:c.-692del
|
NP_001341162.1:n.-692del
|
|
|
NM_001354234.1:c.-656del
|
NP_001341163.1:n.-656del
|
|
|
NM_001354238.1:c.226del
|
NP_001341167.1:p.His76MetfsTer2
|
|
|
NM_001363847.1:c.310del
|
NP_001350776.1:p.His104MetfsTer2
|
|
|
XM_017005202.2:c.226del
|
XP_016860691.1:p.His76MetfsTer2
|
|
|
XM_017005203.2:c.-755del
|
XP_016860692.1:n.-755del
|
|
|
XM_017005204.2:c.-755del
|
XP_016860693.1:n.-755del
|
|
|
XM_017005205.2:c.-747del
|
XP_016860694.1:n.-747del
|
|
|
XM_017005206.2:c.-656del
|
XP_016860695.1:n.-656del
|
|
|
XM_017005208.2:c.-656del
|
XP_016860697.1:n.-656del
|
|
|
XM_017005209.1:c.-307del
|
XP_016860698.1:n.-307del
|
|
|
XM_017005212.2:c.-216del
|
XP_016860701.1:n.-216del
|
|
|
XM_017005214.2:c.-252del
|
XP_016860703.1:n.-252del
|
|
|
XR_001739019.1:n.395del
|
|
|
|
XR_001739020.1:n.395del
|
|
|
|
XR_001739021.1:n.395del
|
|
|
|
NM_003896.4:c.310del
MANE Select
|
NP_003887.3:p.His104MetfsTer2
|
|
|
NM_001042437.2:c.241del
|
NP_001035902.1:p.His81MetfsTer2
|
|
|
NM_001354223.2:c.-252del
|
NP_001341152.1:n.-252del
|
|
|
NM_001354224.2:c.-315del
|
NP_001341153.1:n.-315del
|
|
|
NM_001354226.2:c.-252del
|
NP_001341155.1:n.-252del
|
|
|
NM_001354227.2:c.226del
|
NP_001341156.1:p.His76MetfsTer2
|
|
|
NM_001354229.2:c.226del
|
NP_001341158.1:p.His76MetfsTer2
|
|
|
NM_001354233.2:c.-692del
|
NP_001341162.1:n.-692del
|
|
