|
ENST00000313771.10:n.970del
|
|
|
|
ENST00000355740.8:c.578del
|
ENSP00000347979.3:p.Gly193AlafsTer?
|
|
|
ENST00000357339.7:c.598del
|
ENSP00000349896.2:p.Ala200GlnfsTer2
|
|
|
ENST00000371857.8:n.2206del
|
|
|
|
ENST00000460510.6:c.-57del
|
ENSP00000512812.1:n.-57del
|
|
|
ENST00000466081.6:n.2310del
|
|
|
|
ENST00000477270.6:c.706del
|
ENSP00000512813.1:p.Ala236GlnfsTer2
|
|
|
ENST00000479522.6:c.*90del
|
ENSP00000424113.1:n.*90del
|
|
|
ENST00000484444.6:c.*102del
|
ENSP00000420975.1:n.*102del
|
|
|
ENST00000488877.6:c.552del
|
ENSP00000425159.1:n.552del
|
|
|
ENST00000492756.7:c.*90del
|
ENSP00000422453.1:n.*90del
|
|
|
ENST00000494799.6:c.-57del
|
ENSP00000512834.1:n.-57del
|
|
|
ENST00000562983.3:c.-57del
|
ENSP00000512845.1:n.-57del
|
|
|
ENST00000612663.6:c.*63del
|
ENSP00000477997.3:n.*63del
|
|
|
ENST00000640140.2:n.806del
|
|
|
|
ENST00000640250.2:n.160del
|
|
|
|
ENST00000640681.2:n.765del
|
|
|
|
ENST00000696723.1:n.4294del
|
|
|
|
ENST00000696741.1:n.2299del
|
|
|
|
ENST00000696742.1:n.2026del
|
|
|
|
ENST00000696743.1:n.3429del
|
|
|
|
ENST00000696744.1:n.700del
|
|
|
|
ENST00000696767.1:n.995del
|
|
|
|
ENST00000696768.1:c.515del
|
ENSP00000512859.1:p.Gly172AlafsTer?
|
|
|
ENST00000696769.1:n.2350del
|
|
|
|
ENST00000696771.1:c.-57del
|
ENSP00000512860.1:n.-57del
|
|
|
ENST00000696772.1:n.2264del
|
|
|
|
ENST00000696773.1:n.2003del
|
|
|
|
ENST00000696774.1:n.5020del
|
|
|
|
ENST00000696776.1:c.754del
|
ENSP00000512861.1:p.Ala252GlnfsTer2
|
|
|
ENST00000696777.1:n.2069del
|
|
|
|
ENST00000696778.1:n.1097del
|
|
|
|
ENST00000696779.1:c.268del
|
ENSP00000512862.1:p.Ala90GlnfsTer2
|
|
|
ENST00000696780.1:c.691del
|
ENSP00000512863.1:p.Ala231GlnfsTer2
|
|
|
ENST00000696781.1:c.406del
|
ENSP00000512864.1:p.Ala136GlnfsTer2
|
|
|
ENST00000696782.1:c.*63del
|
ENSP00000512865.1:n.*63del
|
|
|
ENST00000696783.1:n.2529del
|
|
|
|
ENST00000696992.1:n.1778del
|
|
|
|
ENST00000696995.1:n.3439del
|
|
|
|
ENST00000696996.1:n.2103del
|
|
|
|
ENST00000696997.1:c.*291del
|
ENSP00000513028.1:n.*291del
|
|
|
ENST00000696998.1:n.1915del
|
|
|
|
ENST00000696999.1:c.-57del
|
ENSP00000513029.1:n.-57del
|
|
|
ENST00000697035.1:c.654del
|
ENSP00000513059.1:p.Trp218CysfsTer6
|
|
|
ENST00000697036.1:c.*93-767del
|
ENSP00000513060.1:n.*93-767del
|
|
|
ENST00000697037.1:n.696del
|
|
|
|
ENST00000697093.1:n.2146del
|
|
|
|
ENST00000697094.1:n.3244del
|
|
|
|
ENST00000697095.1:c.*1862del
|
ENSP00000513104.1:n.*1862del
|
|
|
ENST00000697096.1:n.1794del
|
|
|
|
ENST00000697097.1:c.-57del
|
ENSP00000513105.1:n.-57del
|
|
|
ENST00000562983.2:n.847del
|
|
|
|
ENST00000690268.1:c.742del
|
ENSP00000509810.1:p.Ala248GlnfsTer2
|
|
|
ENST00000355740.7:c.578del
|
ENSP00000347979.3:p.Gly193AlafsTer?
|
|
|
ENST00000612663.5:c.*63del
|
ENSP00000477997.3:n.*63del
|
|
|
ENST00000640140.1:n.833del
|
|
|
|
ENST00000640250.1:n.160del
|
|
|
|
ENST00000640681.1:n.782del
|
|
|
|
ENST00000652046.1:c.661del
MANE Select
|
ENSP00000498466.1:p.Ala221GlnfsTer2
|
|
|
ENST00000313771.9:n.970del
|
|
|
|
ENST00000352159.8:c.661del
|
ENSP00000345601.4:p.Ala221GlnfsTer2
|
|
|
ENST00000355279.2:c.652-767del
|
ENSP00000347426.2:n.652-767del
|
|
|
ENST00000355740.6:c.661del
|
ENSP00000347979.2:p.Ala221GlnfsTer2
|
|
|
ENST00000357339.6:c.598del
|
ENSP00000349896.2:p.Ala200GlnfsTer2
|
|
|
ENST00000479522.5:c.*90del
|
ENSP00000424113.1:n.*90del
|
|
|
ENST00000484444.5:c.*102del
|
ENSP00000420975.1:n.*102del
|
|
|
ENST00000488877.5:c.*102del
|
ENSP00000425159.1:n.*102del
|
|
|
ENST00000492756.5:c.489del
|
ENSP00000422453.1:n.489del
|
|
|
ENST00000494410.5:c.*19del
|
ENSP00000423755.1:n.*19del
|
|
|
ENST00000494799.5:n.568del
|
|
|
|
ENST00000612663.4:c.*8del
|
ENSP00000477997.2:n.*8del
|
|
|
ENST00000615406.4:c.661del
|
ENSP00000484575.1:p.Ala221GlnfsTer2
|
|
|
ENST00000626542.2:c.661del
|
ENSP00000485876.1:p.Ala221GlnfsTer2
|
|
|
NM_000043.4:c.661del , LRG_134t1:c.661del
|
NP_000034.1:p.Ala221GlnfsTer2
|
|
|
NM_152871.2:c.598del
|
NP_690610.1:p.Ala200GlnfsTer2
|
|
|
NM_152872.2:c.652-767del
|
NP_690611.1:n.652-767del
|
|
|
NR_028033.2:n.835del
|
|
|
|
NR_028034.2:n.697del
|
|
|
|
NR_028035.2:n.760del
|
|
|
|
NR_028036.2:n.898del
|
|
|
|
XM_006717819.2:c.742del
|
XP_006717882.1:p.Ala248GlnfsTer2
|
|
|
XM_011539764.1:c.823del
|
XP_011538066.1:p.Ala275GlnfsTer2
|
|
|
XM_011539765.1:c.760del
|
XP_011538067.1:p.Ala254GlnfsTer2
|
|
|
XM_011539766.1:c.742del
|
XP_011538068.1:p.Ala248GlnfsTer2
|
|
|
XM_011539767.1:c.706del
|
XP_011538069.1:p.Ala236GlnfsTer2
|
|
|
XR_945732.1:n.729del
|
|
|
|
XR_945733.1:n.666del
|
|
|
|
NM_000043.5:c.661del
|
NP_000034.1:p.Ala221GlnfsTer2
|
|
|
NM_001320619.1:c.578del
|
NP_001307548.1:p.Gly193AlafsTer?
|
|
|
NM_152871.3:c.598del
|
NP_690610.1:p.Ala200GlnfsTer2
|
|
|
NM_152872.3:c.652-767del
|
NP_690611.1:n.652-767del
|
|
|
NR_028033.3:n.807del
|
|
|
|
NR_028034.3:n.669del
|
|
|
|
NR_028035.3:n.732del
|
|
|
|
NR_028036.3:n.870del
|
|
|
|
NR_135313.1:n.787del
|
|
|
|
NR_135314.1:n.970del
|
|
|
|
NR_135315.1:n.723del
|
|
|
|
XM_006717819.3:c.742del
|
XP_006717882.1:p.Ala248GlnfsTer2
|
|
|
XM_011539764.2:c.823del
|
XP_011538066.1:p.Ala275GlnfsTer2
|
|
|
XM_011539765.2:c.760del
|
XP_011538067.1:p.Ala254GlnfsTer2
|
|
|
XM_011539766.2:c.742del
|
XP_011538068.1:p.Ala248GlnfsTer2
|
|
|
XM_011539767.3:c.706del
|
XP_011538069.1:p.Ala236GlnfsTer2
|
|
|
XR_945732.3:n.729del
|
|
|
|
XR_945733.2:n.666del
|
|
|
|
NM_000043.6:c.661del
MANE Select
|
NP_000034.1:p.Ala221GlnfsTer2
|
|
|
NM_001320619.2:c.578del
|
NP_001307548.1:p.Gly193AlafsTer?
|
|
|
NM_152871.4:c.598del
|
NP_690610.1:p.Ala200GlnfsTer2
|
|
|
NM_152872.4:c.652-767del
|
NP_690611.1:n.652-767del
|
|
|
NR_028033.4:n.568del
|
|
|
|
NR_028034.4:n.430del
|
|
|
|
NR_028035.4:n.493del
|
|
|
|
NR_028036.4:n.631del
|
|
|
|
NR_135313.2:n.548del
|
|
|
|
NR_135314.2:n.827del
|
|
|
|
NR_135315.2:n.580del
|
|
|
