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"XP_011520938.1:p.[Lys1363_Ser1364delinsAsn;His1366Val;Glu1368_Val1371delinsProArgGlyGlyAla;Arg1373delinsTrpGln;Ile1375His;Ile1377_Glu1378delinsHis;Val1380_Glu1384delinsAlaSerArgLeuLeu;Arg1387Trp;Ser1389_Asp1391delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "CTTA", "end": 4172, "referenceAllele": "", "start": 4172 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.4085_4086insCTTA" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Lys1362AsnfsTer?", "hgvsWellDefined": "XP_011520939.1:p.[Lys1362_Ser1363delinsAsn;His1365Val;Glu1367_Val1370delinsProArgGlyGlyAla;Arg1372delinsTrpGln;Ile1374His;Ile1376_Glu1377delinsHis;Val1379_Glu1383delinsAlaSerArgLeuLeu;Arg1386Trp;Ser1388_Asp1390delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "CTTA", "end": 4268, "referenceAllele": "", "start": 4268 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.4250_4251insCTTA" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Lys1417AsnfsTer?", "hgvsWellDefined": "XP_011520940.2:p.[Lys1417_Ser1418delinsAsn;His1420Val;Glu1422_Val1425delinsProArgGlyGlyAla;Arg1427delinsTrpGln;Ile1429His;Ile1431_Glu1432delinsHis;Val1434_Glu1438delinsAlaSerArgLeuLeu;Arg1441Trp;Ser1443_Asp1445delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "CTTA", "end": 4046, "referenceAllele": "", "start": 4046 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.3959_3960insCTTA" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Lys1320AsnfsTer?", "hgvsWellDefined": "XP_011520941.1:p.[Lys1320_Ser1321delinsAsn;His1323Val;Glu1325_Val1328delinsProArgGlyGlyAla;Arg1330delinsTrpGln;Ile1332His;Ile1334_Glu1335delinsHis;Val1337_Glu1341delinsAlaSerArgLeuLeu;Arg1344Trp;Ser1346_Asp1348delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "CTTA", "end": 4043, "referenceAllele": "", "start": 4043 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.3956_3957insCTTA" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Lys1319AsnfsTer?", "hgvsWellDefined": "XP_011520942.1:p.[Lys1319_Ser1320delinsAsn;His1322Val;Glu1324_Val1327delinsProArgGlyGlyAla;Arg1329delinsTrpGln;Ile1331His;Ile1333_Glu1334delinsHis;Val1336_Glu1340delinsAlaSerArgLeuLeu;Arg1343Trp;Ser1345_Asp1347delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "CTTA", "end": 4118, "referenceAllele": "", "start": 4118 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.4031_4032insCTTA" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Lys1344AsnfsTer?", "hgvsWellDefined": "XP_016879104.1:p.[Lys1344_Ser1345delinsAsn;His1347Val;Glu1349_Val1352delinsProArgGlyGlyAla;Arg1354delinsTrpGln;Ile1356His;Ile1358_Glu1359delinsHis;Val1361_Glu1365delinsAlaSerArgLeuLeu;Arg1368Trp;Ser1370_Asp1372delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "CTTA", "end": 3989, "referenceAllele": "", "start": 3989 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.3902_3903insCTTA" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Lys1301AsnfsTer?", "hgvsWellDefined": "XP_016879105.1:p.[Lys1301_Ser1302delinsAsn;His1304Val;Glu1306_Val1309delinsProArgGlyGlyAla;Arg1311delinsTrpGln;Ile1313His;Ile1315_Glu1316delinsHis;Val1318_Glu1322delinsAlaSerArgLeuLeu;Arg1325Trp;Ser1327_Asp1329delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "CTTA", "end": 4016, "referenceAllele": "", "start": 4016 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.3998_3999insCTTA" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Lys1333AsnfsTer?", "hgvsWellDefined": "XP_016879106.1:p.[Lys1333_Ser1334delinsAsn;His1336Val;Glu1338_Val1341delinsProArgGlyGlyAla;Arg1343delinsTrpGln;Ile1345His;Ile1347_Glu1348delinsHis;Val1350_Glu1354delinsAlaSerArgLeuLeu;Arg1357Trp;Ser1359_Asp1361delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "CTTA", "end": 4262, "referenceAllele": "", "start": 4262 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.2744_2745insCTTA" ], "proteinEffect": { "hgvs": "XP_016879107.1:p.Lys915AsnfsTer?", "hgvsWellDefined": "XP_016879107.1:p.[Lys915_Ser916delinsAsn;His918Val;Glu920_Val923delinsProArgGlyGlyAla;Arg925delinsTrpGln;Ile927His;Ile929_Glu930delinsHis;Val932_Glu936delinsAlaSerArgLeuLeu;Arg939Trp;Ser941_Asp943delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "CTTA", "end": 3920, "referenceAllele": "", "start": 3920 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.3833_3834insCTTA" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Lys1278AsnfsTer?", "hgvsWellDefined": "XP_024306181.1:p.[Lys1278_Ser1279delinsAsn;His1281Val;Glu1283_Val1286delinsProArgGlyGlyAla;Arg1288delinsTrpGln;Ile1290His;Ile1292_Glu1293delinsHis;Val1295_Glu1299delinsAlaSerArgLeuLeu;Arg1302Trp;Ser1304_Asp1306delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "coordinates": [ { "allele": "CTTA", "end": 4144, "referenceAllele": "", "start": 4144 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.4034_4035insCTTA" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Lys1345AsnfsTer?", "hgvsWellDefined": "NP_000539.2:p.[Lys1345_Ser1346delinsAsn;His1348Val;Glu1350_Val1353delinsProArgGlyGlyAla;Arg1355delinsTrpGln;Ile1357His;Ile1359_Glu1360delinsHis;Val1362_Glu1366delinsAlaSerArgLeuLeu;Arg1369Trp;Ser1371_Asp1373delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.4034_4035insCTTA" }, "RefSeq": { "hgvs": "NM_000548.5:c.4034_4035insCTTA" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Lys1345AsnfsTer?" }, "RefSeq": { "hgvs": "NP_000539.2:p.Lys1345AsnfsTer?" } } } }, { "coordinates": [ { "allele": "CTTA", "end": 4012, "referenceAllele": "", "start": 4012 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.3902_3903insCTTA" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Lys1301AsnfsTer?", "hgvsWellDefined": "NP_001357333.1:p.[Lys1301_Ser1302delinsAsn;His1304Val;Glu1306_Val1309delinsProArgGlyGlyAla;Arg1311delinsTrpGln;Ile1313His;Ile1315_Glu1316delinsHis;Val1318_Glu1322delinsAlaSerArgLeuLeu;Arg1325Trp;Ser1327_Asp1329delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "coordinates": [ { "allele": "CTTA", "end": 4015, "referenceAllele": "", "start": 4015 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.3905_3906insCTTA" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Lys1302AsnfsTer?", "hgvsWellDefined": "NP_001357334.1:p.[Lys1302_Ser1303delinsAsn;His1305Val;Glu1307_Val1310delinsProArgGlyGlyAla;Arg1312delinsTrpGln;Ile1314His;Ile1316_Glu1317delinsHis;Val1319_Glu1323delinsAlaSerArgLeuLeu;Arg1326Trp;Ser1328_Asp1330delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "coordinates": [ { "allele": "CTTA", "end": 3943, "referenceAllele": "", "start": 3943 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.3833_3834insCTTA" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Lys1278AsnfsTer?", "hgvsWellDefined": "NP_001070651.1:p.[Lys1278_Ser1279delinsAsn;His1281Val;Glu1283_Val1286delinsProArgGlyGlyAla;Arg1288delinsTrpGln;Ile1290His;Ile1292_Glu1293delinsHis;Val1295_Glu1299delinsAlaSerArgLeuLeu;Arg1302Trp;Ser1304_Asp1306delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "coordinates": [ { "allele": "CTTA", "end": 4075, "referenceAllele": "", "start": 4075 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.3965_3966insCTTA" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Lys1322AsnfsTer?", "hgvsWellDefined": "NP_001107854.1:p.[Lys1322_Ser1323delinsAsn;His1325Val;Glu1327_Val1330delinsProArgGlyGlyAla;Arg1332delinsTrpGln;Ile1334His;Ile1336_Glu1337delinsHis;Val1339_Glu1343delinsAlaSerArgLeuLeu;Arg1346Trp;Ser1348_Asp1350delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "coordinates": [ { "allele": "CTTA", "end": 3835, "referenceAllele": "", "start": 3835 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.3725_3726insCTTA" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Lys1242AsnfsTer?", "hgvsWellDefined": "NP_001305756.1:p.[Lys1242_Ser1243delinsAsn;His1245Val;Glu1247_Val1250delinsProArgGlyGlyAla;Arg1252delinsTrpGln;Ile1254His;Ile1256_Glu1257delinsHis;Val1259_Glu1263delinsAlaSerArgLeuLeu;Arg1266Trp;Ser1268_Asp1270delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "coordinates": [ { "allele": "CTTA", "end": 3779, "referenceAllele": "", "start": 3779 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.3689_3690insCTTA" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Lys1230AsnfsTer?", "hgvsWellDefined": "NP_001305758.1:p.[Lys1230_Ser1231delinsAsn;His1233Val;Glu1235_Val1238delinsProArgGlyGlyAla;Arg1240delinsTrpGln;Ile1242His;Ile1244_Glu1245delinsHis;Val1247_Glu1251delinsAlaSerArgLeuLeu;Arg1254Trp;Ser1256_Asp1258delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "coordinates": [ { "allele": "CTTA", "end": 3638, "referenceAllele": "", "start": 3638 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.3302_3303insCTTA" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Lys1101AsnfsTer?", "hgvsWellDefined": "NP_001305760.1:p.[Lys1101_Ser1102delinsAsn;His1104Val;Glu1106_Val1109delinsProArgGlyGlyAla;Arg1111delinsTrpGln;Ile1113His;Ile1115_Glu1116delinsHis;Val1118_Glu1122delinsAlaSerArgLeuLeu;Arg1125Trp;Ser1127_Asp1129delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "coordinates": [ { "allele": "CTTA", "end": 3934, "referenceAllele": "", "start": 3934 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.3866_3867insCTTA" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Lys1289AsnfsTer?", "hgvsWellDefined": "NP_001305761.1:p.[Lys1289_Ser1290delinsAsn;His1292Val;Glu1294_Val1297delinsProArgGlyGlyAla;Arg1299delinsTrpGln;Ile1301His;Ile1303_Glu1304delinsHis;Val1306_Glu1310delinsAlaSerArgLeuLeu;Arg1313Trp;Ser1315_Asp1317delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "coordinates": [ { "allele": "CTTA", "end": 3946, "referenceAllele": "", "start": 3946 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.3836_3837insCTTA" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Lys1279AsnfsTer?", "hgvsWellDefined": "NP_001350457.1:p.[Lys1279_Ser1280delinsAsn;His1282Val;Glu1284_Val1287delinsProArgGlyGlyAla;Arg1289delinsTrpGln;Ile1291His;Ile1293_Glu1294delinsHis;Val1296_Glu1300delinsAlaSerArgLeuLeu;Arg1303Trp;Ser1305_Asp1307delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "coordinates": [ { "allele": "CTTA", "end": 4015, "referenceAllele": "", "start": 4015 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.3905_3906insCTTA" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Lys1302AsnfsTer?", "hgvsWellDefined": "NP_066399.2:p.[Lys1302_Ser1303delinsAsn;His1305Val;Glu1307_Val1310delinsProArgGlyGlyAla;Arg1312delinsTrpGln;Ile1314His;Ile1316_Glu1317delinsHis;Val1319_Glu1323delinsAlaSerArgLeuLeu;Arg1326Trp;Ser1328_Asp1330delinsAlaLeuCysGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }