|
ENST00000354071.8:n.1104del
|
|
|
|
ENST00000461574.2:c.1040del
|
ENSP00000417241.2:p.Leu347ArgfsTer27
|
|
|
ENST00000470026.6:c.1040del
|
ENSP00000419274.2:p.Leu347ArgfsTer27
|
|
|
ENST00000473961.6:c.914del
|
ENSP00000420201.2:p.Leu305ArgfsTer27
|
|
|
ENST00000476777.6:c.1037del
|
ENSP00000417554.2:p.Leu346ArgfsTer27
|
|
|
ENST00000477152.6:c.962del
|
ENSP00000419988.2:p.Leu321ArgfsTer27
|
|
|
ENST00000478531.6:c.784+253del
|
ENSP00000420412.2:n.784+253del
|
|
|
ENST00000489037.2:c.962del
|
ENSP00000420781.2:p.Leu321ArgfsTer27
|
|
|
ENST00000493919.6:c.646+253del
|
ENSP00000418819.2:n.646+253del
|
|
|
ENST00000494123.6:c.1040del
|
ENSP00000419103.2:p.Leu347ArgfsTer27
|
|
|
ENST00000497488.2:c.152del
|
ENSP00000418986.2:p.Leu51ArgfsTer27
|
|
|
ENST00000618469.2:c.1040del
|
ENSP00000478114.2:p.Leu347ArgfsTer27
|
|
|
ENST00000634433.2:c.917del
|
ENSP00000489431.2:p.Leu306ArgfsTer27
|
|
|
ENST00000644379.2:c.1040del
|
ENSP00000496570.2:p.Leu347ArgfsTer27
|
|
|
ENST00000644555.2:c.646+253del
|
ENSP00000494614.2:n.646+253del
|
|
|
ENST00000652672.2:c.899del
|
ENSP00000498906.2:p.Leu300ArgfsTer27
|
|
|
ENST00000484087.6:c.664+253del
|
ENSP00000419481.2:n.664+253del
|
|
|
ENST00000700182.1:c.706+253del
|
ENSP00000514849.1:n.706+253del
|
|
|
ENST00000700183.1:c.*1048del
|
ENSP00000514850.1:n.*1048del
|
|
|
ENST00000357654.9:c.1040del
MANE Select
|
ENSP00000350283.3:p.Leu347ArgfsTer27
|
|
|
ENST00000471181.7:c.1040del
|
ENSP00000418960.2:p.Leu347ArgfsTer27
|
|
|
ENST00000642945.1:c.*914del
|
ENSP00000495897.1:n.*914del
|
|
|
ENST00000652672.1:c.899del
|
ENSP00000498906.1:p.Leu300ArgfsTer27
|
|
|
ENST00000352993.7:c.670+1355del
|
ENSP00000312236.5:n.670+1355del
|
|
|
ENST00000354071.7:c.1040del
|
ENSP00000326002.7:p.Leu347ArgfsTer27
|
|
|
ENST00000357654.7:c.1040del
|
ENSP00000350283.3:p.Leu347ArgfsTer27
|
|
|
ENST00000412061.3:c.391del
|
|
|
|
ENST00000461221.5:c.*823del
|
ENSP00000418548.1:n.*823del
|
|
|
ENST00000468300.5:c.787+253del
|
ENSP00000417148.1:n.787+253del
|
|
|
ENST00000470026.5:c.1040del
|
ENSP00000419274.1:p.Leu347ArgfsTer27
|
|
|
ENST00000471181.6:c.1040del
|
ENSP00000418960.2:p.Leu347ArgfsTer27
|
|
|
ENST00000473961.5:c.637del
|
|
|
|
ENST00000477152.5:c.962del
|
ENSP00000419988.1:p.Leu321ArgfsTer27
|
|
|
ENST00000478531.5:c.784+253del
|
ENSP00000420412.1:n.784+253del
|
|
|
ENST00000484087.5:c.409+253del
|
ENSP00000419481.1:n.409+253del
|
|
|
ENST00000487825.5:c.412+253del
|
ENSP00000418212.1:n.412+253del
|
|
|
ENST00000491747.6:c.787+253del
|
ENSP00000420705.2:n.787+253del
|
|
|
ENST00000492859.5:c.*976del
|
ENSP00000420253.1:n.*976del
|
|
|
ENST00000493795.5:c.899del
|
ENSP00000418775.1:p.Leu300ArgfsTer27
|
|
|
ENST00000493919.5:c.646+253del
|
ENSP00000418819.1:n.646+253del
|
|
|
ENST00000494123.5:c.1040del
|
ENSP00000419103.1:p.Leu347ArgfsTer27
|
|
|
ENST00000497488.1:c.152del
|
ENSP00000418986.1:p.Leu51ArgfsTer27
|
|
|
ENST00000586385.5:c.5-30540del
|
ENSP00000465818.1:n.5-30540del
|
|
|
ENST00000591534.5:c.-43-19970del
|
ENSP00000467329.1:n.-43-19970del
|
|
|
ENST00000591849.5:c.-99+30780del
|
ENSP00000465347.1:n.-99+30780del
|
|
|
ENST00000634433.1:c.917del
|
ENSP00000489431.1:p.Leu306ArgfsTer27
|
|
|
NM_007294.3:c.1040del , LRG_292t1:c.1040del
|
NP_009225.1:p.Leu347ArgfsTer27
|
|
|
NM_007297.3:c.899del
|
NP_009228.2:p.Leu300ArgfsTer27
|
|
|
NM_007298.3:c.787+253del
|
NP_009229.2:n.787+253del
|
|
|
NM_007299.3:c.787+253del
|
NP_009230.2:n.787+253del
|
|
|
NM_007300.3:c.1040del
|
NP_009231.2:p.Leu347ArgfsTer27
|
|
|
NR_027676.1:n.1176del
|
|
|
|
NM_007294.4:c.1040del
MANE Select
|
NP_009225.1:p.Leu347ArgfsTer27
|
|
|
NM_007297.4:c.899del
|
NP_009228.2:p.Leu300ArgfsTer27
|
|
|
NM_007299.4:c.787+253del
|
NP_009230.2:n.787+253del
|
|
|
NM_007300.4:c.1040del
|
NP_009231.2:p.Leu347ArgfsTer27
|
|
|
NR_027676.2:n.1217del
|
|
|
