|
ENST00000313771.10:n.1190del
|
|
|
|
ENST00000355740.8:c.*204del
|
ENSP00000347979.3:n.*204del
|
|
|
ENST00000357339.7:c.818del
|
ENSP00000349896.2:p.Leu273Ter
|
|
|
ENST00000371857.8:n.2426del
|
|
|
|
ENST00000460510.6:c.164del
|
ENSP00000512812.1:p.Leu55Ter
|
|
|
ENST00000466081.6:n.2530del
|
|
|
|
ENST00000477270.6:c.926del
|
ENSP00000512813.1:p.Leu309Ter
|
|
|
ENST00000479522.6:c.*310del
|
ENSP00000424113.1:n.*310del
|
|
|
ENST00000484444.6:c.*322del
|
ENSP00000420975.1:n.*322del
|
|
|
ENST00000488877.6:c.772del
|
ENSP00000425159.1:n.772del
|
|
|
ENST00000492756.7:c.*310del
|
ENSP00000422453.1:n.*310del
|
|
|
ENST00000494799.6:c.164del
|
ENSP00000512834.1:p.Leu55Ter
|
|
|
ENST00000562983.3:c.164del
|
ENSP00000512845.1:p.Leu55Ter
|
|
|
ENST00000612663.6:c.*283del
|
ENSP00000477997.3:n.*283del
|
|
|
ENST00000640140.2:n.1026del
|
|
|
|
ENST00000640250.2:n.380del
|
|
|
|
ENST00000640681.2:n.985del
|
|
|
|
ENST00000696723.1:n.4514del
|
|
|
|
ENST00000696741.1:n.2519del
|
|
|
|
ENST00000696742.1:n.2246del
|
|
|
|
ENST00000696743.1:n.3649del
|
|
|
|
ENST00000696744.1:n.920del
|
|
|
|
ENST00000696767.1:n.1215del
|
|
|
|
ENST00000696768.1:c.*204del
|
ENSP00000512859.1:n.*204del
|
|
|
ENST00000696769.1:n.2570del
|
|
|
|
ENST00000696771.1:c.164del
|
ENSP00000512860.1:p.Leu55Ter
|
|
|
ENST00000696772.1:n.2484del
|
|
|
|
ENST00000696773.1:n.2223del
|
|
|
|
ENST00000696774.1:n.5991del
|
|
|
|
ENST00000696776.1:c.974del
|
ENSP00000512861.1:p.Leu325Ter
|
|
|
ENST00000696777.1:n.2289del
|
|
|
|
ENST00000696778.1:n.1317del
|
|
|
|
ENST00000696779.1:c.488del
|
ENSP00000512862.1:p.Leu163Ter
|
|
|
ENST00000696780.1:c.911del
|
ENSP00000512863.1:p.Leu304Ter
|
|
|
ENST00000696781.1:c.626del
|
ENSP00000512864.1:p.Leu209Ter
|
|
|
ENST00000696782.1:c.*283del
|
ENSP00000512865.1:n.*283del
|
|
|
ENST00000696783.1:n.2749del
|
|
|
|
ENST00000696992.1:n.1998del
|
|
|
|
ENST00000696995.1:n.4410del
|
|
|
|
ENST00000696996.1:n.2323del
|
|
|
|
ENST00000696997.1:c.*511del
|
ENSP00000513028.1:n.*511del
|
|
|
ENST00000696998.1:n.2135del
|
|
|
|
ENST00000696999.1:c.164del
|
ENSP00000513029.1:p.Leu55Ter
|
|
|
ENST00000697036.1:c.*297del
|
ENSP00000513060.1:n.*297del
|
|
|
ENST00000697037.1:n.916del
|
|
|
|
ENST00000697093.1:n.3117del
|
|
|
|
ENST00000697094.1:n.3464del
|
|
|
|
ENST00000697095.1:c.*2082del
|
ENSP00000513104.1:n.*2082del
|
|
|
ENST00000697096.1:n.2014del
|
|
|
|
ENST00000697097.1:c.164del
|
ENSP00000513105.1:p.Leu55Ter
|
|
|
ENST00000562983.2:n.1067del
|
|
|
|
ENST00000690268.1:c.962del
|
ENSP00000509810.1:p.Leu321Ter
|
|
|
ENST00000355740.7:c.*207del
|
ENSP00000347979.3:n.*207del
|
|
|
ENST00000612663.5:c.*283del
|
ENSP00000477997.3:n.*283del
|
|
|
ENST00000640140.1:n.1053del
|
|
|
|
ENST00000640250.1:n.380del
|
|
|
|
ENST00000640681.1:n.1002del
|
|
|
|
ENST00000652046.1:c.881del
MANE Select
|
ENSP00000498466.1:p.Leu294Ter
|
|
|
ENST00000352159.8:c.*198del
|
ENSP00000345601.4:n.*198del
|
|
|
ENST00000355279.2:c.856del
|
ENSP00000347426.2:n.856del
|
|
|
ENST00000355740.6:c.881del
|
ENSP00000347979.2:p.Leu294Ter
|
|
|
ENST00000357339.6:c.818del
|
ENSP00000349896.2:p.Leu273Ter
|
|
|
ENST00000479522.5:c.*310del
|
ENSP00000424113.1:n.*310del
|
|
|
ENST00000484444.5:c.*322del
|
ENSP00000420975.1:n.*322del
|
|
|
ENST00000488877.5:c.*322del
|
ENSP00000425159.1:n.*322del
|
|
|
ENST00000492756.5:c.709del
|
ENSP00000422453.1:n.709del
|
|
|
ENST00000494410.5:c.*239del
|
ENSP00000423755.1:n.*239del
|
|
|
ENST00000612663.4:c.*228del
|
ENSP00000477997.2:n.*228del
|
|
|
NM_000043.4:c.881del , LRG_134t1:c.881del
|
NP_000034.1:p.Leu294Ter
|
|
|
NM_152871.2:c.818del
|
NP_690610.1:p.Leu273Ter
|
|
|
NM_152872.2:c.*193del
|
NP_690611.1:n.*193del
|
|
|
NR_028033.2:n.1055del
|
|
|
|
NR_028034.2:n.917del
|
|
|
|
NR_028035.2:n.980del
|
|
|
|
NR_028036.2:n.1118del
|
|
|
|
XM_006717819.2:c.962del
|
XP_006717882.1:p.Leu321Ter
|
|
|
XM_011539764.1:c.1043del
|
XP_011538066.1:p.Leu348Ter
|
|
|
XM_011539765.1:c.980del
|
XP_011538067.1:p.Leu327Ter
|
|
|
XM_011539766.1:c.962del
|
XP_011538068.1:p.Leu321Ter
|
|
|
XM_011539767.1:c.926del
|
XP_011538069.1:p.Leu309Ter
|
|
|
XR_945732.1:n.949del
|
|
|
|
XR_945733.1:n.886del
|
|
|
|
NM_000043.5:c.881del
|
NP_000034.1:p.Leu294Ter
|
|
|
NM_001320619.1:c.*204del
|
NP_001307548.1:n.*204del
|
|
|
NM_152871.3:c.818del
|
NP_690610.1:p.Leu273Ter
|
|
|
NM_152872.3:c.*193del
|
NP_690611.1:n.*193del
|
|
|
NR_028033.3:n.1027del
|
|
|
|
NR_028034.3:n.889del
|
|
|
|
NR_028035.3:n.952del
|
|
|
|
NR_028036.3:n.1090del
|
|
|
|
NR_135313.1:n.1007del
|
|
|
|
NR_135314.1:n.1190del
|
|
|
|
NR_135315.1:n.943del
|
|
|
|
XM_006717819.3:c.962del
|
XP_006717882.1:p.Leu321Ter
|
|
|
XM_011539764.2:c.1043del
|
XP_011538066.1:p.Leu348Ter
|
|
|
XM_011539765.2:c.980del
|
XP_011538067.1:p.Leu327Ter
|
|
|
XM_011539766.2:c.962del
|
XP_011538068.1:p.Leu321Ter
|
|
|
XM_011539767.3:c.926del
|
XP_011538069.1:p.Leu309Ter
|
|
|
XR_945732.3:n.949del
|
|
|
|
XR_945733.2:n.886del
|
|
|
|
NM_000043.6:c.881del
MANE Select
|
NP_000034.1:p.Leu294Ter
|
|
|
NM_001320619.2:c.*204del
|
NP_001307548.1:n.*204del
|
|
|
NM_152871.4:c.818del
|
NP_690610.1:p.Leu273Ter
|
|
|
NM_152872.4:c.*193del
|
NP_690611.1:n.*193del
|
|
|
NR_028033.4:n.788del
|
|
|
|
NR_028034.4:n.650del
|
|
|
|
NR_028035.4:n.713del
|
|
|
|
NR_028036.4:n.851del
|
|
|
|
NR_135313.2:n.768del
|
|
|
|
NR_135314.2:n.1047del
|
|
|
|
NR_135315.2:n.800del
|
|
|
