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"NP_066399.2:p.[Glu1301_His1305delinsSerProArgGlyGly;Glu1307_Val1310delinsGlyTrpGln;Arg1312_Ile1314delinsHis;Ile1316_Glu1317delinsHis;Val1319_Glu1323delinsAlaSerArgLeuLeu;Arg1326Trp;Ser1328_Phe1333delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS526032" }, { "coordinates": [ { "allele": "T", "end": 3927, "referenceAllele": "GAGAAGTCG", "start": 3918 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.4:c.3832_3840delinsT" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Glu1278SerfsTer?", "hgvsWellDefined": "XP_005255588.2:p.[Glu1278_His1282delinsSerProArgGlyGly;Glu1284_Val1287delinsGlyTrpGln;Arg1289_Ile1291delinsHis;Ile1293_Glu1294delinsHis;Val1296_Glu1300delinsAlaSerArgLeuLeu;Arg1303Trp;Ser1305_Phe1310delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS534295" }, { "coordinates": [ { "allele": "T", "end": 4179, "referenceAllele": "GAGAAGTCG", "start": 4170 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.2:c.4084_4092delinsT" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Glu1362SerfsTer?", "hgvsWellDefined": "XP_011520938.1:p.[Glu1362_His1366delinsSerProArgGlyGly;Glu1368_Val1371delinsGlyTrpGln;Arg1373_Ile1375delinsHis;Ile1377_Glu1378delinsHis;Val1380_Glu1384delinsAlaSerArgLeuLeu;Arg1387Trp;Ser1389_Phe1394delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "T", "end": 4176, "referenceAllele": "GAGAAGTCG", "start": 4167 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.4081_4089delinsT" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Glu1361SerfsTer?", "hgvsWellDefined": "XP_011520939.1:p.[Glu1361_His1365delinsSerProArgGlyGly;Glu1367_Val1370delinsGlyTrpGln;Arg1372_Ile1374delinsHis;Ile1376_Glu1377delinsHis;Val1379_Glu1383delinsAlaSerArgLeuLeu;Arg1386Trp;Ser1388_Phe1393delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "T", "end": 4272, "referenceAllele": "GAGAAGTCG", "start": 4263 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.4246_4254delinsT" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Glu1416SerfsTer?", "hgvsWellDefined": "XP_011520940.2:p.[Glu1416_His1420delinsSerProArgGlyGly;Glu1422_Val1425delinsGlyTrpGln;Arg1427_Ile1429delinsHis;Ile1431_Glu1432delinsHis;Val1434_Glu1438delinsAlaSerArgLeuLeu;Arg1441Trp;Ser1443_Phe1448delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "T", "end": 4050, "referenceAllele": "GAGAAGTCG", "start": 4041 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.3955_3963delinsT" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Glu1319SerfsTer?", "hgvsWellDefined": "XP_011520941.1:p.[Glu1319_His1323delinsSerProArgGlyGly;Glu1325_Val1328delinsGlyTrpGln;Arg1330_Ile1332delinsHis;Ile1334_Glu1335delinsHis;Val1337_Glu1341delinsAlaSerArgLeuLeu;Arg1344Trp;Ser1346_Phe1351delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "T", "end": 4047, "referenceAllele": "GAGAAGTCG", "start": 4038 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.3952_3960delinsT" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Glu1318SerfsTer?", "hgvsWellDefined": "XP_011520942.1:p.[Glu1318_His1322delinsSerProArgGlyGly;Glu1324_Val1327delinsGlyTrpGln;Arg1329_Ile1331delinsHis;Ile1333_Glu1334delinsHis;Val1336_Glu1340delinsAlaSerArgLeuLeu;Arg1343Trp;Ser1345_Phe1350delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "T", "end": 4122, "referenceAllele": "GAGAAGTCG", "start": 4113 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.4027_4035delinsT" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Glu1343SerfsTer?", "hgvsWellDefined": "XP_016879104.1:p.[Glu1343_His1347delinsSerProArgGlyGly;Glu1349_Val1352delinsGlyTrpGln;Arg1354_Ile1356delinsHis;Ile1358_Glu1359delinsHis;Val1361_Glu1365delinsAlaSerArgLeuLeu;Arg1368Trp;Ser1370_Phe1375delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "T", "end": 3993, "referenceAllele": "GAGAAGTCG", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.3898_3906delinsT" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Glu1300SerfsTer?", "hgvsWellDefined": "XP_016879105.1:p.[Glu1300_His1304delinsSerProArgGlyGly;Glu1306_Val1309delinsGlyTrpGln;Arg1311_Ile1313delinsHis;Ile1315_Glu1316delinsHis;Val1318_Glu1322delinsAlaSerArgLeuLeu;Arg1325Trp;Ser1327_Phe1332delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "T", "end": 4020, "referenceAllele": "GAGAAGTCG", "start": 4011 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.3994_4002delinsT" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Glu1332SerfsTer?", "hgvsWellDefined": "XP_016879106.1:p.[Glu1332_His1336delinsSerProArgGlyGly;Glu1338_Val1341delinsGlyTrpGln;Arg1343_Ile1345delinsHis;Ile1347_Glu1348delinsHis;Val1350_Glu1354delinsAlaSerArgLeuLeu;Arg1357Trp;Ser1359_Phe1364delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "T", "end": 4266, "referenceAllele": "GAGAAGTCG", "start": 4257 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.2740_2748delinsT" ], "proteinEffect": { "hgvs": "XP_016879107.1:p.Glu914SerfsTer?", "hgvsWellDefined": "XP_016879107.1:p.[Glu914_His918delinsSerProArgGlyGly;Glu920_Val923delinsGlyTrpGln;Arg925_Ile927delinsHis;Ile929_Glu930delinsHis;Val932_Glu936delinsAlaSerArgLeuLeu;Arg939Trp;Ser941_Phe946delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "T", "end": 3924, "referenceAllele": "GAGAAGTCG", "start": 3915 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.3829_3837delinsT" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Glu1277SerfsTer?", "hgvsWellDefined": "XP_024306181.1:p.[Glu1277_His1281delinsSerProArgGlyGly;Glu1283_Val1286delinsGlyTrpGln;Arg1288_Ile1290delinsHis;Ile1292_Glu1293delinsHis;Val1295_Glu1299delinsAlaSerArgLeuLeu;Arg1302Trp;Ser1304_Phe1309delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "coordinates": [ { "allele": "T", "end": 4148, "referenceAllele": "GAGAAGTCG", "start": 4139 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.4030_4038delinsT" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Glu1344SerfsTer?", "hgvsWellDefined": "NP_000539.2:p.[Glu1344_His1348delinsSerProArgGlyGly;Glu1350_Val1353delinsGlyTrpGln;Arg1355_Ile1357delinsHis;Ile1359_Glu1360delinsHis;Val1362_Glu1366delinsAlaSerArgLeuLeu;Arg1369Trp;Ser1371_Phe1376delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.4030_4038delinsT" }, "RefSeq": { "hgvs": "NM_000548.5:c.4030_4038delinsT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Glu1344SerfsTer?" }, "RefSeq": { "hgvs": "NP_000539.2:p.Glu1344SerfsTer?" } } } }, { "coordinates": [ { "allele": "T", "end": 4016, "referenceAllele": "GAGAAGTCG", "start": 4007 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.3898_3906delinsT" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Glu1300SerfsTer?", "hgvsWellDefined": "NP_001357333.1:p.[Glu1300_His1304delinsSerProArgGlyGly;Glu1306_Val1309delinsGlyTrpGln;Arg1311_Ile1313delinsHis;Ile1315_Glu1316delinsHis;Val1318_Glu1322delinsAlaSerArgLeuLeu;Arg1325Trp;Ser1327_Phe1332delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "coordinates": [ { "allele": "T", "end": 4019, "referenceAllele": "GAGAAGTCG", "start": 4010 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.3901_3909delinsT" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Glu1301SerfsTer?", "hgvsWellDefined": "NP_001357334.1:p.[Glu1301_His1305delinsSerProArgGlyGly;Glu1307_Val1310delinsGlyTrpGln;Arg1312_Ile1314delinsHis;Ile1316_Glu1317delinsHis;Val1319_Glu1323delinsAlaSerArgLeuLeu;Arg1326Trp;Ser1328_Phe1333delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "coordinates": [ { "allele": "T", "end": 3947, "referenceAllele": "GAGAAGTCG", "start": 3938 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.3829_3837delinsT" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Glu1277SerfsTer?", "hgvsWellDefined": "NP_001070651.1:p.[Glu1277_His1281delinsSerProArgGlyGly;Glu1283_Val1286delinsGlyTrpGln;Arg1288_Ile1290delinsHis;Ile1292_Glu1293delinsHis;Val1295_Glu1299delinsAlaSerArgLeuLeu;Arg1302Trp;Ser1304_Phe1309delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "coordinates": [ { "allele": "T", "end": 4079, "referenceAllele": "GAGAAGTCG", "start": 4070 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.3961_3969delinsT" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Glu1321SerfsTer?", "hgvsWellDefined": "NP_001107854.1:p.[Glu1321_His1325delinsSerProArgGlyGly;Glu1327_Val1330delinsGlyTrpGln;Arg1332_Ile1334delinsHis;Ile1336_Glu1337delinsHis;Val1339_Glu1343delinsAlaSerArgLeuLeu;Arg1346Trp;Ser1348_Phe1353delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "coordinates": [ { "allele": "T", "end": 3839, "referenceAllele": "GAGAAGTCG", "start": 3830 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.3721_3729delinsT" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Glu1241SerfsTer?", "hgvsWellDefined": "NP_001305756.1:p.[Glu1241_His1245delinsSerProArgGlyGly;Glu1247_Val1250delinsGlyTrpGln;Arg1252_Ile1254delinsHis;Ile1256_Glu1257delinsHis;Val1259_Glu1263delinsAlaSerArgLeuLeu;Arg1266Trp;Ser1268_Phe1273delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "coordinates": [ { "allele": "T", "end": 3783, "referenceAllele": "GAGAAGTCG", "start": 3774 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.3685_3693delinsT" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Glu1229SerfsTer?", "hgvsWellDefined": "NP_001305758.1:p.[Glu1229_His1233delinsSerProArgGlyGly;Glu1235_Val1238delinsGlyTrpGln;Arg1240_Ile1242delinsHis;Ile1244_Glu1245delinsHis;Val1247_Glu1251delinsAlaSerArgLeuLeu;Arg1254Trp;Ser1256_Phe1261delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "coordinates": [ { "allele": "T", "end": 3642, "referenceAllele": "GAGAAGTCG", "start": 3633 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.3298_3306delinsT" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Glu1100SerfsTer?", "hgvsWellDefined": "NP_001305760.1:p.[Glu1100_His1104delinsSerProArgGlyGly;Glu1106_Val1109delinsGlyTrpGln;Arg1111_Ile1113delinsHis;Ile1115_Glu1116delinsHis;Val1118_Glu1122delinsAlaSerArgLeuLeu;Arg1125Trp;Ser1127_Phe1132delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "coordinates": [ { "allele": "T", "end": 3938, "referenceAllele": "GAGAAGTCG", "start": 3929 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.3862_3870delinsT" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Glu1288SerfsTer?", "hgvsWellDefined": "NP_001305761.1:p.[Glu1288_His1292delinsSerProArgGlyGly;Glu1294_Val1297delinsGlyTrpGln;Arg1299_Ile1301delinsHis;Ile1303_Glu1304delinsHis;Val1306_Glu1310delinsAlaSerArgLeuLeu;Arg1313Trp;Ser1315_Phe1320delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "coordinates": [ { "allele": "T", "end": 3950, "referenceAllele": "GAGAAGTCG", "start": 3941 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.3832_3840delinsT" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Glu1278SerfsTer?", "hgvsWellDefined": "NP_001350457.1:p.[Glu1278_His1282delinsSerProArgGlyGly;Glu1284_Val1287delinsGlyTrpGln;Arg1289_Ile1291delinsHis;Ile1293_Glu1294delinsHis;Val1296_Glu1300delinsAlaSerArgLeuLeu;Arg1303Trp;Ser1305_Phe1310delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "coordinates": [ { "allele": "T", "end": 4019, "referenceAllele": "GAGAAGTCG", "start": 4010 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.3901_3909delinsT" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Glu1301SerfsTer?", "hgvsWellDefined": "NP_066399.2:p.[Glu1301_His1305delinsSerProArgGlyGly;Glu1307_Val1310delinsGlyTrpGln;Arg1312_Ile1314delinsHis;Ile1316_Glu1317delinsHis;Val1319_Glu1323delinsAlaSerArgLeuLeu;Arg1326Trp;Ser1328_Phe1333delinsAlaLeuCysGlyProLeuLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }