Linked Data
ClinVar Variation Id:
15942
ClinVar RCV Id:
RCV000017307
dbSNP Id:
rs137854536
MyVariant Identifiers:
chr20:g.57484792_57484793delinsGC (hg19)
chr20:g.58909737_58909738delinsGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58909737_58909738delinsGC , CM000682.2:g.58909737_58909738delinsGC | GRCh38 |
| NC_000020.10:g.57484792_57484793delinsGC , CM000682.1:g.57484792_57484793delinsGC | GRCh37 |
| NC_000020.9:g.56918187_56918188delinsGC | NCBI36 |
| NG_016194.1:g.74998_74999delinsGC | |
| NG_016194.2:g.74998_74999delinsGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349036.9:c.2656_2657delinsGC | ENSP00000265621.6:p.Arg886Ala | |
| ENST00000419558.7:c.*630_*631delinsGC | ENSP00000416234.2:n.*630_*631delinsGC | |
| ENST00000453292.7:c.1371_1372delinsGC | ENSP00000392000.2:n.1371_1372delinsGC | |
| ENST00000462499.6:c.553_554delinsGC | ENSP00000499758.2:p.Arg185Ala | |
| ENST00000464624.7:c.*614_*615delinsGC | ENSP00000499607.2:n.*614_*615delinsGC | |
| ENST00000464788.6:c.595_596delinsGC | ENSP00000499239.2:p.Arg199Ala | |
| ENST00000467227.6:c.553_554delinsGC | ENSP00000499681.2:p.Arg185Ala | |
| ENST00000467321.6:c.595_596delinsGC | ENSP00000499523.2:p.Arg199Ala | |
| ENST00000468895.6:c.772_773delinsGC | ENSP00000499551.2:p.Arg258Ala | |
| ENST00000469431.6:c.595_596delinsGC | ENSP00000499654.2:p.Arg199Ala | |
| ENST00000470512.6:c.598_599delinsGC | ENSP00000499552.2:p.Arg200Ala | |
| ENST00000472183.6:c.595_596delinsGC | ENSP00000499673.2:p.Arg199Ala | |
| ENST00000475610.2:n.1278_1279delinsGC | ||
| ENST00000476935.6:c.550_551delinsGC | ENSP00000499409.2:p.Arg184Ala | |
| ENST00000478585.6:c.553_554delinsGC | ENSP00000499762.2:p.Arg185Ala | |
| ENST00000480232.6:c.598_599delinsGC | ENSP00000499545.2:p.Arg200Ala | |
| ENST00000481039.6:c.553_554delinsGC | ENSP00000499767.2:p.Arg185Ala | |
| ENST00000482112.6:c.550_551delinsGC | ENSP00000499794.2:p.Arg184Ala | |
| ENST00000485673.6:c.553_554delinsGC | ENSP00000499334.2:p.Arg185Ala | |
| ENST00000488546.6:c.553_554delinsGC | ENSP00000499332.2:p.Arg185Ala | |
| ENST00000488652.6:c.595_596delinsGC | ENSP00000499435.2:p.Arg199Ala | |
| ENST00000492907.6:c.553_554delinsGC | ENSP00000499443.2:p.Arg185Ala | |
| ENST00000603546.2:c.595_596delinsGC | ENSP00000474802.2:p.Arg199Ala | |
| ENST00000604005.6:c.595_596delinsGC | ENSP00000474219.2:p.Arg199Ala | |
| ENST00000663479.2:c.598_599delinsGC | ENSP00000499353.2:p.Arg200Ala | |
| ENST00000667293.2:c.595_596delinsGC | ENSP00000499293.2:p.Arg199Ala | |
| ENST00000676826.2:c.2704_2705delinsGC | ENSP00000504675.2:p.Arg902Ala | |
| ENST00000682092.1:n.5056_5057delinsGC | ||
| ENST00000682134.1:n.2698_2699delinsGC | ||
| ENST00000682411.1:n.2867_2868delinsGC | ||
| ENST00000682590.1:n.4959_4960delinsGC | ||
| ENST00000682680.1:n.4973_4974delinsGC | ||
| ENST00000682803.1:c.445_446delinsGC | ENSP00000507069.1:p.Arg149Ala | |
| ENST00000682829.1:n.3100_3101delinsGC | ||
| ENST00000682917.1:n.1300_1301delinsGC | ||
| ENST00000682986.1:n.5189_5190delinsGC | ||
| ENST00000683015.1:c.1542_1543delinsGC | ENSP00000506815.1:n.1542_1543delinsGC | |
| ENST00000683632.1:n.5302_5303delinsGC | ||
| ENST00000683932.1:n.6548_6549delinsGC | ||
| ENST00000684284.1:n.3150_3151delinsGC | ||
| ENST00000684466.1:n.1411_1412delinsGC | ||
| ENST00000684644.1:n.5092_5093delinsGC | ||
| ENST00000684761.1:n.1265_1266delinsGC | ||
| ENST00000306090.12:c.676_677delinsGC | ENSP00000304472.12:p.Arg226Ala | |
| ENST00000354359.12:c.775_776delinsGC | ENSP00000346328.7:p.Arg259Ala | |
| ENST00000371085.8:c.772_773delinsGC MANE Select | ENSP00000360126.3:p.Arg258Ala | |
| ENST00000371100.9:c.2701_2702delinsGC MANE Plus Clinical | ENSP00000360141.3:p.Arg901Ala | |
| ENST00000656419.1:c.301_302delinsGC | ENSP00000499614.1:p.Arg101Ala | |
| ENST00000657090.1:c.595_596delinsGC | ENSP00000499380.1:p.Arg199Ala | |
| ENST00000667293.1:c.643_644delinsGC | ENSP00000499293.1:p.Arg215Ala | |
| ENST00000265620.11:c.727_728delinsGC | ENSP00000265620.7:p.Arg243Ala | |
| ENST00000306090.11:c.94-30_94-29delinsGC | ENSP00000304472.11:n.94-30_94-29delinsGC | |
| ENST00000313949.11:c.*675_*676delinsGC | ENSP00000323571.7:n.*675_*676delinsGC | |
| ENST00000354359.11:c.775_776delinsGC | ENSP00000346328.7:p.Arg259Ala | |
| ENST00000371075.7:c.*678_*679delinsGC MANE Plus Clinical | ENSP00000360115.3:n.*678_*679delinsGC | |
| ENST00000371085.7:c.772_773delinsGC | ENSP00000360126.3:p.Arg258Ala | |
| ENST00000371095.7:c.730_731delinsGC | ENSP00000360136.3:p.Arg244Ala | |
| ENST00000371100.8:c.2701_2702delinsGC | ENSP00000360141.3:p.Arg901Ala | |
| ENST00000371102.8:c.2659_2660delinsGC | ENSP00000360143.4:p.Arg887Ala | |
| ENST00000464624.6:n.2988_2989delinsGC | ||
| ENST00000470512.5:n.846_847delinsGC | ||
| ENST00000476196.5:n.1065_1066delinsGC | ||
| ENST00000476935.5:n.761_762delinsGC | ||
| ENST00000477931.5:n.887_888delinsGC | ||
| ENST00000480232.5:n.791_792delinsGC | ||
| ENST00000480975.5:n.771_772delinsGC | ||
| ENST00000481039.5:n.689_690delinsGC | ||
| ENST00000487862.5:n.1006_1007delinsGC | ||
| ENST00000488546.5:n.631_632delinsGC | ||
| ENST00000488652.5:n.862_863delinsGC | ||
| ENST00000492907.5:n.723_724delinsGC | ||
| ENST00000493958.5:n.495_496delinsGC | ||
| ENST00000494081.5:n.327_328delinsGC | ||
| ENST00000496934.5:n.2061_2062delinsGC | ||
| NM_000516.4:c.772_773delinsGC | NP_000507.1:p.Arg258Ala | |
| NM_000516.5:c.772_773delinsGC | NP_000507.1:p.Arg258Ala | |
| NM_001077488.2:c.775_776delinsGC | NP_001070956.1:p.Arg259Ala | |
| NM_001077488.3:c.775_776delinsGC | NP_001070956.1:p.Arg259Ala | |
| NM_001077489.2:c.727_728delinsGC | NP_001070957.1:p.Arg243Ala | |
| NM_001077489.3:c.727_728delinsGC | NP_001070957.1:p.Arg243Ala | |
| NM_001077490.1:c.*633_*634delinsGC | NP_001070958.1:n.*633_*634delinsGC | |
| NM_001077490.2:c.*633_*634delinsGC | NP_001070958.1:n.*633_*634delinsGC | |
| NM_001309840.1:c.595_596delinsGC | NP_001296769.1:p.Arg199Ala | |
| NM_001309861.1:c.595_596delinsGC | NP_001296790.1:p.Arg199Ala | |
| NM_016592.2:c.*678_*679delinsGC | NP_057676.1:n.*678_*679delinsGC | |
| NM_016592.3:c.*678_*679delinsGC | NP_057676.1:n.*678_*679delinsGC | |
| NM_080425.2:c.2701_2702delinsGC | NP_536350.2:p.Arg901Ala | |
| NM_080425.3:c.2701_2702delinsGC | NP_536350.2:p.Arg901Ala | |
| NM_080426.2:c.730_731delinsGC | NP_536351.1:p.Arg244Ala | |
| NM_080426.3:c.730_731delinsGC | NP_536351.1:p.Arg244Ala | |
| NR_003259.1:c.-4294966434_-4294966433delinsGC | ||
| XM_017027812.2:c.2704_2705delinsGC | XP_016883301.1:p.Arg902Ala | |
| XM_017027813.2:c.2659_2660delinsGC | XP_016883302.1:p.Arg887Ala | |
| XM_017027814.2:c.2656_2657delinsGC | XP_016883303.1:p.Arg886Ala | |
| XM_017027815.1:c.631_632delinsGC | XP_016883304.1:p.Arg211Ala | |
| XM_017027816.1:c.550_551delinsGC | XP_016883305.1:p.Arg184Ala | |
| XM_017027817.1:c.550_551delinsGC | XP_016883306.1:p.Arg184Ala | |
| XM_017027818.2:c.550_551delinsGC | XP_016883307.1:p.Arg184Ala | |
| XM_017027819.1:c.550_551delinsGC | XP_016883308.1:p.Arg184Ala | |
| XM_017027820.1:c.550_551delinsGC | XP_016883309.1:p.Arg184Ala | |
| XM_024451872.1:c.676_677delinsGC | XP_024307640.1:p.Arg226Ala | |
| XM_024451873.1:c.595_596delinsGC | XP_024307641.1:p.Arg199Ala | |
| XM_024451874.1:c.595_596delinsGC | XP_024307642.1:p.Arg199Ala | |
| XM_024451875.1:c.595_596delinsGC | XP_024307643.1:p.Arg199Ala | |
| XR_002958471.1:n.1479_1480delinsGC | ||
| NM_000516.6:c.772_773delinsGC | NP_000507.1:p.Arg258Ala | |
| NM_001077488.4:c.775_776delinsGC | NP_001070956.1:p.Arg259Ala | |
| NM_001077489.4:c.727_728delinsGC | NP_001070957.1:p.Arg243Ala | |
| NM_001309840.2:c.595_596delinsGC | NP_001296769.1:p.Arg199Ala | |
| NM_001309861.2:c.595_596delinsGC | NP_001296790.1:p.Arg199Ala | |
| NM_016592.4:c.*678_*679delinsGC | NP_057676.1:n.*678_*679delinsGC | |
| NM_080426.4:c.730_731delinsGC | NP_536351.1:p.Arg244Ala | |
| NM_000516.7:c.772_773delinsGC MANE Select | NP_000507.1:p.Arg258Ala | |
| NM_001077488.5:c.775_776delinsGC | NP_001070956.1:p.Arg259Ala | |
| NM_001077490.3:c.*633_*634delinsGC | NP_001070958.1:n.*633_*634delinsGC | |
| NM_016592.5:c.*678_*679delinsGC MANE Plus Clinical | NP_057676.1:n.*678_*679delinsGC | |
| NM_080425.4:c.2701_2702delinsGC MANE Plus Clinical | NP_536350.2:p.Arg901Ala |