|
NM_000516.7:c.1125_1126del
MANE Select
|
NP_000507.1:p.Phe376GlnfsTer5
|
|
ENST00000371085.8:c.1125_1126del
MANE Select
|
ENSP00000360126.3:p.Phe376GlnfsTer5
|
|
NM_016592.5:c.*1031_*1032del
MANE Plus Clinical
|
NP_057676.1:n.*1031_*1032del
|
|
NM_080425.4:c.3054_3055del
MANE Plus Clinical
|
NP_536350.2:p.Phe1019GlnfsTer5
|
|
ENST00000371075.7:c.*1031_*1032del
MANE Plus Clinical
|
ENSP00000360115.3:n.*1031_*1032del
|
|
ENST00000371100.9:c.3054_3055del
MANE Plus Clinical
|
ENSP00000360141.3:p.Phe1019GlnfsTer5
|
|
NM_000516.4:c.1125_1126del
|
NP_000507.1:p.Phe376GlnfsTer5
|
|
NM_000516.5:c.1125_1126del
|
NP_000507.1:p.Phe376GlnfsTer5
|
|
NM_000516.6:c.1125_1126del
|
NP_000507.1:p.Phe376GlnfsTer5
|
|
NM_001077488.2:c.1128_1129del
|
NP_001070956.1:p.Phe377GlnfsTer5
|
|
NM_001077488.3:c.1128_1129del
|
NP_001070956.1:p.Phe377GlnfsTer5
|
|
NM_001077488.4:c.1128_1129del
|
NP_001070956.1:p.Phe377GlnfsTer5
|
|
NM_001077488.5:c.1128_1129del
|
NP_001070956.1:p.Phe377GlnfsTer5
|
|
NM_001077489.2:c.1080_1081del
|
NP_001070957.1:p.Phe361GlnfsTer5
|
|
NM_001077489.3:c.1080_1081del
|
NP_001070957.1:p.Phe361GlnfsTer5
|
|
NM_001077489.4:c.1080_1081del
|
NP_001070957.1:p.Phe361GlnfsTer5
|
|
NM_001077490.1:c.*986_*987del
|
NP_001070958.1:n.*986_*987del
|
|
NM_001077490.2:c.*986_*987del
|
NP_001070958.1:n.*986_*987del
|
|
NM_001077490.3:c.*986_*987del
|
NP_001070958.1:n.*986_*987del
|
|
NM_001309840.1:c.948_949del
|
NP_001296769.1:p.Phe317GlnfsTer5
|
|
NM_001309840.2:c.948_949del
|
NP_001296769.1:p.Phe317GlnfsTer5
|
|
NM_001309861.1:c.948_949del
|
NP_001296790.1:p.Phe317GlnfsTer5
|
|
NM_001309861.2:c.948_949del
|
NP_001296790.1:p.Phe317GlnfsTer5
|
|
NM_016592.2:c.*1031_*1032del
|
NP_057676.1:n.*1031_*1032del
|
|
NM_016592.3:c.*1031_*1032del
|
NP_057676.1:n.*1031_*1032del
|
|
NM_016592.4:c.*1031_*1032del
|
NP_057676.1:n.*1031_*1032del
|
|
NM_080425.2:c.3054_3055del
|
NP_536350.2:p.Phe1019GlnfsTer5
|
|
NM_080425.3:c.3054_3055del
|
NP_536350.2:p.Phe1019GlnfsTer5
|
|
NM_080426.2:c.1083_1084del
|
NP_536351.1:p.Phe362GlnfsTer5
|
|
NM_080426.3:c.1083_1084del
|
NP_536351.1:p.Phe362GlnfsTer5
|
|
NM_080426.4:c.1083_1084del
|
NP_536351.1:p.Phe362GlnfsTer5
|
|
NR_003259.1:c.-4294966081_-4294966080del
|
|
|
ENST00000265620.11:c.1080_1081del
|
ENSP00000265620.7:p.Phe361GlnfsTer5
|
|
ENST00000306090.11:c.417_418del
|
ENSP00000304472.11:p.Phe140GlnfsTer5
|
|
ENST00000306090.12:c.1029_1030del
|
ENSP00000304472.12:p.Phe344GlnfsTer5
|
|
ENST00000313949.11:c.*1028_*1029del
|
ENSP00000323571.7:n.*1028_*1029del
|
|
ENST00000349036.9:c.3009_3010del
|
ENSP00000265621.6:p.Phe1004GlnfsTer5
|
|
ENST00000354359.11:c.1128_1129del
|
ENSP00000346328.7:p.Phe377GlnfsTer5
|
|
ENST00000354359.12:c.1128_1129del
|
ENSP00000346328.7:p.Phe377GlnfsTer5
|
|
ENST00000371085.7:c.1125_1126del
|
ENSP00000360126.3:p.Phe376GlnfsTer5
|
|
ENST00000371095.7:c.1083_1084del
|
ENSP00000360136.3:p.Phe362GlnfsTer5
|
|
ENST00000371100.8:c.3054_3055del
|
ENSP00000360141.3:p.Phe1019GlnfsTer5
|
|
ENST00000371102.8:c.3012_3013del
|
ENSP00000360143.4:p.Phe1005GlnfsTer5
|
|
ENST00000419558.7:c.*983_*984del
|
ENSP00000416234.2:n.*983_*984del
|
|
ENST00000453292.7:c.1724_1725del
|
ENSP00000392000.2:n.1724_1725del
|
|
ENST00000462499.6:c.906_907del
|
ENSP00000499758.2:p.Phe303GlnfsTer5
|
|
ENST00000464624.6:n.3341_3342del
|
|
|
ENST00000464624.7:c.*967_*968del
|
ENSP00000499607.2:n.*967_*968del
|
|
ENST00000464788.6:c.948_949del
|
ENSP00000499239.2:p.Phe317GlnfsTer5
|
|
ENST00000467227.6:c.906_907del
|
ENSP00000499681.2:p.Phe303GlnfsTer5
|
|
ENST00000467321.6:c.948_949del
|
ENSP00000499523.2:p.Phe317GlnfsTer5
|
|
ENST00000468895.6:c.*16_*17del
|
ENSP00000499551.2:n.*16_*17del
|
|
ENST00000469431.6:c.948_949del
|
ENSP00000499654.2:p.Phe317GlnfsTer5
|
|
ENST00000470512.6:c.951_952del
|
ENSP00000499552.2:p.Phe318GlnfsTer5
|
|
ENST00000472183.6:c.948_949del
|
ENSP00000499673.2:p.Phe317GlnfsTer5
|
|
ENST00000475610.1:n.481_482del
|
|
|
ENST00000475610.2:n.1883_1884del
|
|
|
ENST00000476196.5:n.1418_1419del
|
|
|
ENST00000476935.6:c.903_904del
|
ENSP00000499409.2:p.Phe302GlnfsTer5
|
|
ENST00000477931.5:n.1240_1241del
|
|
|
ENST00000478585.6:c.906_907del
|
ENSP00000499762.2:p.Phe303GlnfsTer5
|
|
ENST00000480232.6:c.951_952del
|
ENSP00000499545.2:p.Phe318GlnfsTer5
|
|
ENST00000480975.5:n.1124_1125del
|
|
|
ENST00000481039.6:c.906_907del
|
ENSP00000499767.2:p.Phe303GlnfsTer5
|
|
ENST00000482112.6:c.903_904del
|
ENSP00000499794.2:p.Phe302GlnfsTer5
|
|
ENST00000485673.6:c.906_907del
|
ENSP00000499334.2:p.Phe303GlnfsTer5
|
|
ENST00000487862.5:n.1359_1360del
|
|
|
ENST00000488546.6:c.906_907del
|
ENSP00000499332.2:p.Phe303GlnfsTer5
|
|
ENST00000488652.6:c.948_949del
|
ENSP00000499435.2:p.Phe317GlnfsTer5
|
|
ENST00000492907.6:c.906_907del
|
ENSP00000499443.2:p.Phe303GlnfsTer5
|
|
ENST00000496934.5:n.2414_2415del
|
|
|
ENST00000603546.2:c.948_949del
|
ENSP00000474802.2:p.Phe317GlnfsTer5
|
|
ENST00000604005.6:c.948_949del
|
ENSP00000474219.2:p.Phe317GlnfsTer5
|
|
ENST00000656419.1:c.654_655del
|
ENSP00000499614.1:p.Phe219GlnfsTer5
|
|
ENST00000657090.1:c.948_949del
|
ENSP00000499380.1:p.Phe317GlnfsTer5
|
|
ENST00000663479.2:c.951_952del
|
ENSP00000499353.2:p.Phe318GlnfsTer5
|
|
ENST00000667293.1:c.996_997del
|
ENSP00000499293.1:p.Phe333GlnfsTer5
|
|
ENST00000667293.2:c.948_949del
|
ENSP00000499293.2:p.Phe317GlnfsTer5
|
|
ENST00000676826.2:c.3057_3058del
|
ENSP00000504675.2:p.Phe1020GlnfsTer5
|
|
ENST00000682092.1:n.5409_5410del
|
|
|
ENST00000682134.1:n.3051_3052del
|
|
|
ENST00000682411.1:n.3220_3221del
|
|
|
ENST00000682590.1:n.5312_5313del
|
|
|
ENST00000682680.1:n.5326_5327del
|
|
|
ENST00000682803.1:c.798_799del
|
ENSP00000507069.1:p.Phe267GlnfsTer5
|
|
ENST00000682829.1:n.3453_3454del
|
|
|
ENST00000682917.1:n.1653_1654del
|
|
|
ENST00000682986.1:n.6221_6222del
|
|
|
ENST00000683015.1:c.1895_1896del
|
ENSP00000506815.1:n.1895_1896del
|
|
ENST00000683632.1:n.5907_5908del
|
|
|
ENST00000683932.1:n.6901_6902del
|
|
|
ENST00000684284.1:n.3503_3504del
|
|
|
ENST00000684466.1:n.1764_1765del
|
|
|
ENST00000684644.1:n.5445_5446del
|
|
|
ENST00000684761.1:n.1618_1619del
|
|
|
XM_017027812.2:c.3057_3058del
|
XP_016883301.1:p.Phe1020GlnfsTer5
|
|
XM_017027813.2:c.3012_3013del
|
XP_016883302.1:p.Phe1005GlnfsTer5
|
|
XM_017027814.2:c.3009_3010del
|
XP_016883303.1:p.Phe1004GlnfsTer5
|
|
XM_017027815.1:c.984_985del
|
XP_016883304.1:p.Phe329GlnfsTer5
|
|
XM_017027816.1:c.903_904del
|
XP_016883305.1:p.Phe302GlnfsTer5
|
|
XM_017027817.1:c.903_904del
|
XP_016883306.1:p.Phe302GlnfsTer5
|
|
XM_017027818.2:c.903_904del
|
XP_016883307.1:p.Phe302GlnfsTer5
|
|
XM_017027819.1:c.903_904del
|
XP_016883308.1:p.Phe302GlnfsTer5
|
|
XM_017027820.1:c.903_904del
|
XP_016883309.1:p.Phe302GlnfsTer5
|
|
XM_024451872.1:c.1029_1030del
|
XP_024307640.1:p.Phe344GlnfsTer5
|
|
XM_024451873.1:c.948_949del
|
XP_024307641.1:p.Phe317GlnfsTer5
|
|
XM_024451874.1:c.948_949del
|
XP_024307642.1:p.Phe317GlnfsTer5
|
|
XM_024451875.1:c.948_949del
|
XP_024307643.1:p.Phe317GlnfsTer5
|
|
XR_002958471.1:n.1832_1833del
|
|
