{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3265648709", "communityStandardTitle": [ "NM_000548.5(TSC2):c.4141_4231del (p.Pro1381AlafsTer?)" ], "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "", "end": 2084453, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 2084362 } ], "hgvs": [ "NC_000016.10:g.2084363_2084453del", "CM000678.2:g.2084363_2084453del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "", "end": 2134454, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 2134363 } ], "hgvs": [ "NC_000016.9:g.2134364_2134454del", "CM000678.1:g.2134364_2134454del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "", "end": 2074455, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 2074364 } ], "hgvs": [ "NC_000016.8:g.2074365_2074455del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "", "end": 40148, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 40057 } ], "hgvs": [ "NG_005895.1:g.40058_40148del", "LRG_487:g.40058_40148del" ], "referenceSequence": "http://reg.genome.network/refseq/RS000437" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 4062, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 3971 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568566.6:c.*2490_*2580del" ], "proteinEffect": { "hgvs": "ENSP00000455997.2:n.*2490_*2580del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914316" }, { "coordinates": [ { "allele": "", "end": 4194, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4103 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642206.2:c.3988_4078del" ], "proteinEffect": { "hgvs": "ENSP00000495146.2:p.Pro1330AlafsTer?", "hgvsWellDefined": "ENSP00000495146.2:p.[Pro1330Ala;Ser1332_Ser1337delinsArgLeuArg;Glu1339_Leu1343delinsGlyHisSer;Asp1345_Pro1350delinsGlyProTrpThr;Asp1352del;Ala1354_Val1356delinsValLeuPro;Leu1359_Ser1360del;Glu1362_Val1363delinsArgAla;Ala1365_Gly1370del;Leu1372_Asp1373delinsVal;Glu1375_Ser1376del;Ala1378_Trp1379del;Ala1381_Gln1389del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914400" }, { "coordinates": [ { "allele": "", "end": 4299, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4208 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.2:c.4138_4228del" ], "proteinEffect": { "hgvs": "ENSP00000495459.2:p.Pro1380AlafsTer?", "hgvsWellDefined": "ENSP00000495459.2:p.[Pro1380Ala;Ser1382_Ser1387delinsArgLeuArg;Glu1389_Leu1393delinsGlyHisSer;Asp1395_Pro1400delinsGlyProTrpThr;Asp1402del;Ala1404_Val1406delinsValLeuPro;Leu1409_Ser1410del;Glu1412_Val1413delinsArgAla;Ala1415_Gly1420del;Leu1422_Asp1423delinsVal;Glu1425_Ser1426del;Ala1428_Trp1429del;Ala1431_Gln1439del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914403" }, { "coordinates": [ { "allele": "", "end": 5266, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 5175 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644417.2:c.*4521_*4611del" ], "proteinEffect": { "hgvs": "ENSP00000493912.2:n.*4521_*4611del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914414" }, { "coordinates": [ { "allele": "", "end": 7318, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 7227 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646464.2:c.*6890_*6980del" ], "proteinEffect": { "hgvs": "ENSP00000496610.2:n.*6890_*6980del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914421" }, { "coordinates": [ { "allele": "", "end": 4341, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4250 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.9:c.4141_4231del" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Pro1381AlafsTer?", "hgvsWellDefined": "ENSP00000219476.3:p.[Pro1381Ala;Ser1383_Ser1388delinsArgLeuArg;Glu1390_Leu1394delinsGlyHisSer;Asp1396_Pro1401delinsGlyProTrpThr;Asp1403del;Ala1405_Val1407delinsValLeuPro;Leu1410_Ser1411del;Glu1413_Val1414delinsArgAla;Ala1416_Gly1421del;Leu1423_Asp1424delinsVal;Glu1426_Ser1427del;Ala1429_Trp1430del;Ala1432_Gln1440del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS740437", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.4141_4231del" }, "RefSeq": { "hgvs": "NM_000548.5:c.4141_4231del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Pro1381AlafsTer?" }, "RefSeq": { "hgvs": "NP_000539.2:p.Pro1381AlafsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 4237, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4146 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.9:c.4072_4162del" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Pro1358AlafsTer?", "hgvsWellDefined": "ENSP00000344383.4:p.[Pro1358Ala;Ser1360_Ser1365delinsArgLeuArg;Glu1367_Leu1371delinsGlyHisSer;Asp1373_Pro1378delinsGlyProTrpThr;Asp1380del;Ala1382_Val1384delinsValLeuPro;Leu1387_Ser1388del;Glu1390_Val1391delinsArgAla;Ala1393_Gly1398del;Leu1400_Asp1401delinsVal;Glu1403_Ser1404del;Ala1406_Trp1407del;Ala1409_Gln1417del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS748446" }, { "coordinates": [ { "allele": "", "end": 4136, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4045 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.7:c.3940_4030del" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Pro1314AlafsTer?", "hgvsWellDefined": "ENSP00000384468.2:p.[Pro1314Ala;Ser1316_Ser1321delinsArgLeuArg;Glu1323_Leu1327delinsGlyHisSer;Asp1329_Pro1334delinsGlyProTrpThr;Asp1336del;Ala1338_Val1340delinsValLeuPro;Leu1343_Ser1344del;Glu1346_Val1347delinsArgAla;Ala1349_Gly1354del;Leu1356_Asp1357delinsVal;Glu1359_Ser1360del;Ala1362_Trp1363del;Ala1365_Gln1373del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS753982" }, { "coordinates": [ { "allele": "", "end": 4131, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4040 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.6:c.3973_4063del" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Pro1325AlafsTer?", "hgvsWellDefined": "ENSP00000454487.1:p.[Pro1325Ala;Ser1327_Ser1332delinsArgLeuArg;Glu1334_Leu1338delinsGlyHisSer;Asp1340_Pro1345delinsGlyProTrpThr;Asp1347del;Ala1349_Val1351delinsValLeuPro;Leu1354_Ser1355del;Glu1357_Val1358delinsArgAla;Ala1360_Gly1365del;Leu1367_Asp1368delinsVal;Glu1370_Ser1371del;Ala1373_Trp1374del;Ala1376_Gln1384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS760554" }, { "coordinates": [ { "allele": "", "end": 467, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569110.2:c.377_467del" ], "referenceSequence": "http://reg.genome.network/refseq/RS760583" }, { "coordinates": [ { "allele": "", "end": 2113, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 2022 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569930.2:n.2023_2113del" ], "referenceSequence": "http://reg.genome.network/refseq/RS760618" }, { "coordinates": [ { "allele": "", "end": 2885, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 2794 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.1:c.2795_2885del" ], "referenceSequence": "http://reg.genome.network/refseq/RS766702" }, { "coordinates": [ { "allele": "", "end": 4154, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4063 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642561.1:c.4012_4102del" ], "proteinEffect": { "hgvs": "ENSP00000495099.1:p.Pro1338AlafsTer?", "hgvsWellDefined": "ENSP00000495099.1:p.[Pro1338Ala;Ser1340_Ser1345delinsArgLeuArg;Glu1347_Leu1351delinsGlyHisSer;Asp1353_Pro1358delinsGlyProTrpThr;Asp1360del;Ala1362_Val1364delinsValLeuPro;Leu1367_Ser1368del;Glu1370_Val1371delinsArgAla;Ala1373_Gly1378del;Leu1380_Asp1381delinsVal;Glu1383_Ser1384del;Ala1386_Trp1387del;Ala1389_Gln1397del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS766811" }, { "coordinates": [ { "allele": "", "end": 413, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642728.1:n.323_413del" ], "referenceSequence": "http://reg.genome.network/refseq/RS766898" }, { "coordinates": [ { "allele": "", "end": 4087, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 3996 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642797.1:c.3943_4033del" ], "proteinEffect": { "hgvs": "ENSP00000493846.1:p.Pro1315AlafsTer?", "hgvsWellDefined": "ENSP00000493846.1:p.[Pro1315Ala;Ser1317_Ser1322delinsArgLeuArg;Glu1324_Leu1328delinsGlyHisSer;Asp1330_Pro1335delinsGlyProTrpThr;Asp1337del;Ala1339_Val1341delinsValLeuPro;Leu1344_Ser1345del;Glu1347_Val1348delinsArgAla;Ala1350_Gly1355del;Leu1357_Asp1358delinsVal;Glu1360_Ser1361del;Ala1363_Trp1364del;Ala1366_Gln1374del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS766928" }, { "coordinates": [ { "allele": "", "end": 4208, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4117 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642936.1:c.4009_4099del" ], "proteinEffect": { "hgvs": "ENSP00000494514.1:p.Pro1337AlafsTer?", "hgvsWellDefined": "ENSP00000494514.1:p.[Pro1337Ala;Ser1339_Ser1344delinsArgLeuArg;Glu1346_Leu1350delinsGlyHisSer;Asp1352_Pro1357delinsGlyProTrpThr;Asp1359del;Ala1361_Val1363delinsValLeuPro;Leu1366_Ser1367del;Glu1369_Val1370delinsArgAla;Ala1372_Gly1377del;Leu1379_Asp1380delinsVal;Glu1382_Ser1383del;Ala1385_Trp1386del;Ala1388_Gln1396del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS766999" }, { "coordinates": [ { "allele": "", "end": 4148, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4057 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643088.1:c.3940_4030del" ], "proteinEffect": { "hgvs": "ENSP00000494747.1:p.Pro1314AlafsTer?", "hgvsWellDefined": "ENSP00000494747.1:p.[Pro1314Ala;Ser1316_Ser1321delinsArgLeuArg;Glu1323_Leu1327delinsGlyHisSer;Asp1329_Pro1334delinsGlyProTrpThr;Asp1336del;Ala1338_Val1340delinsValLeuPro;Leu1343_Ser1344del;Glu1346_Val1347delinsArgAla;Ala1349_Gly1354del;Leu1356_Asp1357delinsVal;Glu1359_Ser1360del;Ala1362_Trp1363del;Ala1365_Gln1373del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS767083" }, { "coordinates": [ { "allele": "", "end": 245, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 154 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643177.1:n.155_245del" ], "referenceSequence": "http://reg.genome.network/refseq/RS767136" }, { "coordinates": [ { "allele": "", "end": 1879, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643426.1:n.1789_1879del" ], "referenceSequence": "http://reg.genome.network/refseq/RS767277" }, { "coordinates": [ { "allele": "", "end": 4280, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4189 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643946.1:c.4072_4162del" ], "proteinEffect": { "hgvs": "ENSP00000495927.1:p.Pro1358AlafsTer?", "hgvsWellDefined": "ENSP00000495927.1:p.[Pro1358Ala;Ser1360_Ser1365delinsArgLeuArg;Glu1367_Leu1371delinsGlyHisSer;Asp1373_Pro1378delinsGlyProTrpThr;Asp1380del;Ala1382_Val1384delinsValLeuPro;Leu1387_Ser1388del;Glu1390_Val1391delinsArgAla;Ala1393_Gly1398del;Leu1400_Asp1401delinsVal;Glu1403_Ser1404del;Ala1406_Trp1407del;Ala1409_Gln1417del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS767559" }, { "coordinates": [ { "allele": "", "end": 4156, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4065 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644043.1:c.4012_4102del" ], "proteinEffect": { "hgvs": "ENSP00000496262.1:p.Pro1338AlafsTer?", "hgvsWellDefined": "ENSP00000496262.1:p.[Pro1338Ala;Ser1340_Ser1345delinsArgLeuArg;Glu1347_Leu1351delinsGlyHisSer;Asp1353_Pro1358delinsGlyProTrpThr;Asp1360del;Ala1362_Val1364delinsValLeuPro;Leu1367_Ser1368del;Glu1370_Val1371delinsArgAla;Ala1373_Gly1378del;Leu1380_Asp1381delinsVal;Glu1383_Ser1384del;Ala1386_Trp1387del;Ala1389_Gln1397del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS767603" }, { "coordinates": [ { "allele": "", "end": 4092, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4001 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644329.1:c.3940_4030del" ], "proteinEffect": { "hgvs": "ENSP00000496611.1:p.Pro1314AlafsTer?", "hgvsWellDefined": "ENSP00000496611.1:p.[Pro1314Ala;Ser1316_Ser1321delinsArgLeuArg;Glu1323_Leu1327delinsGlyHisSer;Asp1329_Pro1334delinsGlyProTrpThr;Asp1336del;Ala1338_Val1340delinsValLeuPro;Leu1343_Ser1344del;Glu1346_Val1347delinsArgAla;Ala1349_Gly1354del;Leu1356_Asp1357delinsVal;Glu1359_Ser1360del;Ala1362_Trp1363del;Ala1365_Gln1373del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS767764" }, { "coordinates": [ { "allele": "", "end": 4133, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4042 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644335.1:c.3943_4033del" ], "proteinEffect": { "hgvs": "ENSP00000496317.1:p.Pro1315AlafsTer?", "hgvsWellDefined": "ENSP00000496317.1:p.[Pro1315Ala;Ser1317_Ser1322delinsArgLeuArg;Glu1324_Leu1328delinsGlyHisSer;Asp1330_Pro1335delinsGlyProTrpThr;Asp1337del;Ala1339_Val1341delinsValLeuPro;Leu1344_Ser1345del;Glu1347_Val1348delinsArgAla;Ala1350_Gly1355del;Leu1357_Asp1358delinsVal;Glu1360_Ser1361del;Ala1363_Trp1364del;Ala1366_Gln1374del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS767767" }, { "coordinates": [ { "allele": "", "end": 4152, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4061 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644399.1:c.4062_4152del" ], "referenceSequence": "http://reg.genome.network/refseq/RS767800" }, { "coordinates": [ { "allele": "", "end": 2315, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 2224 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645024.1:n.2225_2315del" ], "referenceSequence": "http://reg.genome.network/refseq/RS768127" }, { "coordinates": [ { "allele": "", "end": 474, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645186.1:c.384_474del" ], "referenceSequence": "http://reg.genome.network/refseq/RS768213" }, { "coordinates": [ { "allele": "", "end": 4317, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4226 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ 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"CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 1392 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646674.1:n.1393_1483del" ], "referenceSequence": "http://reg.genome.network/refseq/RS769003" }, { "coordinates": [ { "allele": "", "end": 1454, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000647042.1:n.1364_1454del" ], "referenceSequence": "http://reg.genome.network/refseq/RS769203" }, { "coordinates": [ { "allele": "", "end": 1344, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000647180.1:n.1254_1344del" ], "referenceSequence": "http://reg.genome.network/refseq/RS769277" }, { "coordinates": [ { "allele": "", "end": 4861, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4770 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.7:c.4141_4231del" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Pro1381AlafsTer?", "hgvsWellDefined": "ENSP00000219476.3:p.[Pro1381Ala;Ser1383_Ser1388delinsArgLeuArg;Glu1390_Leu1394delinsGlyHisSer;Asp1396_Pro1401delinsGlyProTrpThr;Asp1403del;Ala1405_Val1407delinsValLeuPro;Leu1410_Ser1411del;Glu1413_Val1414delinsArgAla;Ala1416_Gly1421del;Leu1423_Asp1424delinsVal;Glu1426_Ser1427del;Ala1429_Trp1430del;Ala1432_Gln1440del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247369" }, { "coordinates": [ { "allele": "", "end": 4237, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4146 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.8:c.4072_4162del" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Pro1358AlafsTer?", "hgvsWellDefined": "ENSP00000344383.4:p.[Pro1358Ala;Ser1360_Ser1365delinsArgLeuArg;Glu1367_Leu1371delinsGlyHisSer;Asp1373_Pro1378delinsGlyProTrpThr;Asp1380del;Ala1382_Val1384delinsValLeuPro;Leu1387_Ser1388del;Glu1390_Val1391delinsArgAla;Ala1393_Gly1398del;Leu1400_Asp1401delinsVal;Glu1403_Ser1404del;Ala1406_Trp1407del;Ala1409_Gln1417del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS246737" }, { "coordinates": [ { "allele": "", "end": 3981, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 3890 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000382538.10:c.3796_3886del" ], "proteinEffect": { "hgvs": "ENSP00000371978.6:p.Pro1266AlafsTer?", "hgvsWellDefined": "ENSP00000371978.6:p.[Pro1266Ala;Ser1268_Ser1273delinsArgLeuArg;Glu1275_Leu1279delinsGlyHisSer;Asp1281_Pro1286delinsGlyProTrpThr;Asp1288del;Ala1290_Val1292delinsValLeuPro;Leu1295_Ser1296del;Glu1298_Val1299delinsArgAla;Ala1301_Gly1306del;Leu1308_Asp1309delinsVal;Glu1311_Ser1312del;Ala1314_Trp1315del;Ala1317_Gln1325del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247352" }, { "coordinates": [ { "allele": "", "end": 4136, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4045 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.6:c.3940_4030del" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Pro1314AlafsTer?", "hgvsWellDefined": 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"CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 3912 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439673.6:c.3832_3922del" ], "proteinEffect": { "hgvs": "ENSP00000399232.2:p.Pro1278AlafsTer?", "hgvsWellDefined": "ENSP00000399232.2:p.[Pro1278Ala;Ser1280_Ser1285delinsArgLeuArg;Glu1287_Leu1291delinsGlyHisSer;Asp1293_Pro1298delinsGlyProTrpThr;Asp1300del;Ala1302_Val1304delinsValLeuPro;Leu1307_Ser1308del;Glu1310_Val1311delinsArgAla;Ala1313_Gly1318del;Leu1320_Asp1321delinsVal;Glu1323_Ser1324del;Ala1326_Trp1327del;Ala1329_Gln1337del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247254" }, { "coordinates": [ { "allele": "", "end": 1989, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 1898 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000497886.5:n.1899_1989del" ], "referenceSequence": "http://reg.genome.network/refseq/RS334013" }, { "coordinates": [ { "allele": "", "end": 4131, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4040 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.5:c.3973_4063del" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Pro1325AlafsTer?", "hgvsWellDefined": "ENSP00000454487.1:p.[Pro1325Ala;Ser1327_Ser1332delinsArgLeuArg;Glu1334_Leu1338delinsGlyHisSer;Asp1340_Pro1345delinsGlyProTrpThr;Asp1347del;Ala1349_Val1351delinsValLeuPro;Leu1354_Ser1355del;Glu1357_Val1358delinsArgAla;Ala1360_Gly1365del;Leu1367_Asp1368delinsVal;Glu1370_Ser1371del;Ala1373_Trp1374del;Ala1376_Gln1384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247412" }, { "coordinates": [ { "allele": "", "end": 413, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569110.1:c.323_413del" ], "referenceSequence": "http://reg.genome.network/refseq/RS246736" }, { "coordinates": [ { "allele": "", "end": 1346, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569930.1:n.1256_1346del" ], "referenceSequence": "http://reg.genome.network/refseq/RS381794" }, { "coordinates": [ { "allele": "", "end": 4337, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4246 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.3:c.4141_4231del", "LRG_487t1:c.4141_4231del" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Pro1381AlafsTer?", "hgvsWellDefined": "NP_000539.2:p.[Pro1381Ala;Ser1383_Ser1388delinsArgLeuArg;Glu1390_Leu1394delinsGlyHisSer;Asp1396_Pro1401delinsGlyProTrpThr;Asp1403del;Ala1405_Val1407delinsValLeuPro;Leu1410_Ser1411del;Glu1413_Val1414delinsArgAla;Ala1416_Gly1421del;Leu1423_Asp1424delinsVal;Glu1426_Ser1427del;Ala1429_Trp1430del;Ala1432_Gln1440del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS006607" }, { "coordinates": [ { "allele": "", "end": 4136, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4045 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.1:c.3940_4030del" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Pro1314AlafsTer?", "hgvsWellDefined": "NP_001070651.1:p.[Pro1314Ala;Ser1316_Ser1321delinsArgLeuArg;Glu1323_Leu1327delinsGlyHisSer;Asp1329_Pro1334delinsGlyProTrpThr;Asp1336del;Ala1338_Val1340delinsValLeuPro;Leu1343_Ser1344del;Glu1346_Val1347delinsArgAla;Ala1349_Gly1354del;Leu1356_Asp1357delinsVal;Glu1359_Ser1360del;Ala1362_Trp1363del;Ala1365_Gln1373del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS009932" }, { "coordinates": [ { "allele": "", "end": 4268, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4177 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.1:c.4072_4162del" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Pro1358AlafsTer?", "hgvsWellDefined": "NP_001107854.1:p.[Pro1358Ala;Ser1360_Ser1365delinsArgLeuArg;Glu1367_Leu1371delinsGlyHisSer;Asp1373_Pro1378delinsGlyProTrpThr;Asp1380del;Ala1382_Val1384delinsValLeuPro;Leu1387_Ser1388del;Glu1390_Val1391delinsArgAla;Ala1393_Gly1398del;Leu1400_Asp1401delinsVal;Glu1403_Ser1404del;Ala1406_Trp1407del;Ala1409_Gln1417del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS011321" }, { "coordinates": [ { "allele": "", "end": 4189, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4098 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255529.3:c.4012_4102del" ], "proteinEffect": { "hgvs": "XP_005255586.2:p.Pro1338AlafsTer?", "hgvsWellDefined": "XP_005255586.2:p.[Pro1338Ala;Ser1340_Ser1345delinsArgLeuArg;Glu1347_Leu1351delinsGlyHisSer;Asp1353_Pro1358delinsGlyProTrpThr;Asp1360del;Ala1362_Val1364delinsValLeuPro;Leu1367_Ser1368del;Glu1370_Val1371delinsArgAla;Ala1373_Gly1378del;Leu1380_Asp1381delinsVal;Glu1383_Ser1384del;Ala1386_Trp1387del;Ala1389_Gln1397del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS060980" }, { "coordinates": [ { "allele": "", "end": 4120, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4029 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.3:c.3943_4033del" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Pro1315AlafsTer?", "hgvsWellDefined": "XP_005255588.2:p.[Pro1315Ala;Ser1317_Ser1322delinsArgLeuArg;Glu1324_Leu1328delinsGlyHisSer;Asp1330_Pro1335delinsGlyProTrpThr;Asp1337del;Ala1339_Val1341delinsValLeuPro;Leu1344_Ser1345del;Glu1347_Val1348delinsArgAla;Ala1350_Gly1355del;Leu1357_Asp1358delinsVal;Glu1360_Ser1361del;Ala1363_Trp1364del;Ala1366_Gln1374del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS060981" }, { "coordinates": [ { "allele": "", "end": 4372, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4281 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.1:c.4195_4285del" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Pro1399AlafsTer?", "hgvsWellDefined": "XP_011520938.1:p.[Pro1399Ala;Ser1401_Ser1406delinsArgLeuArg;Glu1408_Leu1412delinsGlyHisSer;Asp1414_Pro1419delinsGlyProTrpThr;Asp1421del;Ala1423_Val1425delinsValLeuPro;Leu1428_Ser1429del;Glu1431_Val1432delinsArgAla;Ala1434_Gly1439del;Leu1441_Asp1442delinsVal;Glu1444_Ser1445del;Ala1447_Trp1448del;Ala1450_Gln1458del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089783" }, { "coordinates": [ { "allele": "", "end": 4369, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4278 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.1:c.4192_4282del" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Pro1398AlafsTer?", "hgvsWellDefined": "XP_011520939.1:p.[Pro1398Ala;Ser1400_Ser1405delinsArgLeuArg;Glu1407_Leu1411delinsGlyHisSer;Asp1413_Pro1418delinsGlyProTrpThr;Asp1420del;Ala1422_Val1424delinsValLeuPro;Leu1427_Ser1428del;Glu1430_Val1431delinsArgAla;Ala1433_Gly1438del;Leu1440_Asp1441delinsVal;Glu1443_Ser1444del;Ala1446_Trp1447del;Ala1449_Gln1457del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089784" }, { "coordinates": [ { "allele": "", "end": 4333, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.1:c.4084_4174del" ], "proteinEffect": { "hgvs": "XP_011520940.1:p.Pro1362AlafsTer?", "hgvsWellDefined": "XP_011520940.1:p.[Pro1362Ala;Ser1364_Ser1369delinsArgLeuArg;Glu1371_Leu1375delinsGlyHisSer;Asp1377_Pro1382delinsGlyProTrpThr;Asp1384del;Ala1386_Val1388delinsValLeuPro;Leu1391_Ser1392del;Glu1394_Val1395delinsArgAla;Ala1397_Gly1402del;Leu1404_Asp1405delinsVal;Glu1407_Ser1408del;Ala1410_Trp1411del;Ala1413_Gln1421del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089785" }, { "coordinates": [ { "allele": "", "end": 4243, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4152 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.1:c.4066_4156del" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Pro1356AlafsTer?", "hgvsWellDefined": "XP_011520941.1:p.[Pro1356Ala;Ser1358_Ser1363delinsArgLeuArg;Glu1365_Leu1369delinsGlyHisSer;Asp1371_Pro1376delinsGlyProTrpThr;Asp1378del;Ala1380_Val1382delinsValLeuPro;Leu1385_Ser1386del;Glu1388_Val1389delinsArgAla;Ala1391_Gly1396del;Leu1398_Asp1399delinsVal;Glu1401_Ser1402del;Ala1404_Trp1405del;Ala1407_Gln1415del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089786" }, { "coordinates": [ { "allele": "", "end": 4240, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4149 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.1:c.4063_4153del" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Pro1355AlafsTer?", "hgvsWellDefined": "XP_011520942.1:p.[Pro1355Ala;Ser1357_Ser1362delinsArgLeuArg;Glu1364_Leu1368delinsGlyHisSer;Asp1370_Pro1375delinsGlyProTrpThr;Asp1377del;Ala1379_Val1381delinsValLeuPro;Leu1384_Ser1385del;Glu1387_Val1388delinsArgAla;Ala1390_Gly1395del;Leu1397_Asp1398delinsVal;Glu1400_Ser1401del;Ala1403_Trp1404del;Ala1406_Gln1414del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089787" }, { "coordinates": [ { "allele": "", "end": 4081, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 3990 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522641.1:c.3832_3922del" ], "proteinEffect": { "hgvs": "XP_011520943.1:p.Pro1278AlafsTer?", "hgvsWellDefined": "XP_011520943.1:p.[Pro1278Ala;Ser1280_Ser1285delinsArgLeuArg;Glu1287_Leu1291delinsGlyHisSer;Asp1293_Pro1298delinsGlyProTrpThr;Asp1300del;Ala1302_Val1304delinsValLeuPro;Leu1307_Ser1308del;Glu1310_Val1311delinsArgAla;Ala1313_Gly1318del;Leu1320_Asp1321delinsVal;Glu1323_Ser1324del;Ala1326_Trp1327del;Ala1329_Gln1337del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089788" }, { "coordinates": [ { "allele": "", "end": 4431, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4340 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.4:c.4141_4231del" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Pro1381AlafsTer?", "hgvsWellDefined": "NP_000539.2:p.[Pro1381Ala;Ser1383_Ser1388delinsArgLeuArg;Glu1390_Leu1394delinsGlyHisSer;Asp1396_Pro1401delinsGlyProTrpThr;Asp1403del;Ala1405_Val1407delinsValLeuPro;Leu1410_Ser1411del;Glu1413_Val1414delinsArgAla;Ala1416_Gly1421del;Leu1423_Asp1424delinsVal;Glu1426_Ser1427del;Ala1429_Trp1430del;Ala1432_Gln1440del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS510811" }, { "coordinates": [ { "allele": "", "end": 4230, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4139 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.2:c.3940_4030del" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Pro1314AlafsTer?", "hgvsWellDefined": "NP_001070651.1:p.[Pro1314Ala;Ser1316_Ser1321delinsArgLeuArg;Glu1323_Leu1327delinsGlyHisSer;Asp1329_Pro1334delinsGlyProTrpThr;Asp1336del;Ala1338_Val1340delinsValLeuPro;Leu1343_Ser1344del;Glu1346_Val1347delinsArgAla;Ala1349_Gly1354del;Leu1356_Asp1357delinsVal;Glu1359_Ser1360del;Ala1362_Trp1363del;Ala1365_Gln1373del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS511206" }, { "coordinates": [ { "allele": "", "end": 4362, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4271 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.2:c.4072_4162del" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Pro1358AlafsTer?", "hgvsWellDefined": "NP_001107854.1:p.[Pro1358Ala;Ser1360_Ser1365delinsArgLeuArg;Glu1367_Leu1371delinsGlyHisSer;Asp1373_Pro1378delinsGlyProTrpThr;Asp1380del;Ala1382_Val1384delinsValLeuPro;Leu1387_Ser1388del;Glu1390_Val1391delinsArgAla;Ala1393_Gly1398del;Leu1400_Asp1401delinsVal;Glu1403_Ser1404del;Ala1406_Trp1407del;Ala1409_Gln1417del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS511373" }, { "coordinates": [ { "allele": "", "end": 4122, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4031 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.1:c.3832_3922del" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Pro1278AlafsTer?", "hgvsWellDefined": "NP_001305756.1:p.[Pro1278Ala;Ser1280_Ser1285delinsArgLeuArg;Glu1287_Leu1291delinsGlyHisSer;Asp1293_Pro1298delinsGlyProTrpThr;Asp1300del;Ala1302_Val1304delinsValLeuPro;Leu1307_Ser1308del;Glu1310_Val1311delinsArgAla;Ala1313_Gly1318del;Leu1320_Asp1321delinsVal;Glu1323_Ser1324del;Ala1326_Trp1327del;Ala1329_Gln1337del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS513062" }, { "coordinates": [ { "allele": "", "end": 4066, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 3975 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.1:c.3796_3886del" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Pro1266AlafsTer?", "hgvsWellDefined": "NP_001305758.1:p.[Pro1266Ala;Ser1268_Ser1273delinsArgLeuArg;Glu1275_Leu1279delinsGlyHisSer;Asp1281_Pro1286delinsGlyProTrpThr;Asp1288del;Ala1290_Val1292delinsValLeuPro;Leu1295_Ser1296del;Glu1298_Val1299delinsArgAla;Ala1301_Gly1306del;Leu1308_Asp1309delinsVal;Glu1311_Ser1312del;Ala1314_Trp1315del;Ala1317_Gln1325del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS513064" }, { "coordinates": [ { "allele": "", "end": 3925, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 3834 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.1:c.3409_3499del" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Pro1137AlafsTer?", "hgvsWellDefined": "NP_001305760.1:p.[Pro1137Ala;Ser1139_Ser1144delinsArgLeuArg;Glu1146_Leu1150delinsGlyHisSer;Asp1152_Pro1157delinsGlyProTrpThr;Asp1159del;Ala1161_Val1163delinsValLeuPro;Leu1166_Ser1167del;Glu1169_Val1170delinsArgAla;Ala1172_Gly1177del;Leu1179_Asp1180delinsVal;Glu1182_Ser1183del;Ala1185_Trp1186del;Ala1188_Gln1196del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS513066" }, { "coordinates": [ { "allele": "", "end": 4131, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4040 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.1:c.3973_4063del" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Pro1325AlafsTer?", "hgvsWellDefined": "NP_001305761.1:p.[Pro1325Ala;Ser1327_Ser1332delinsArgLeuArg;Glu1334_Leu1338delinsGlyHisSer;Asp1340_Pro1345delinsGlyProTrpThr;Asp1347del;Ala1349_Val1351delinsValLeuPro;Leu1354_Ser1355del;Glu1357_Val1358delinsArgAla;Ala1360_Gly1365del;Leu1367_Asp1368delinsVal;Glu1370_Ser1371del;Ala1373_Trp1374del;Ala1376_Gln1384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS513067" }, { "coordinates": [ { "allele": "", "end": 4233, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4142 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.1:c.3943_4033del" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Pro1315AlafsTer?", "hgvsWellDefined": "NP_001350457.1:p.[Pro1315Ala;Ser1317_Ser1322delinsArgLeuArg;Glu1324_Leu1328delinsGlyHisSer;Asp1330_Pro1335delinsGlyProTrpThr;Asp1337del;Ala1339_Val1341delinsValLeuPro;Leu1344_Ser1345del;Glu1347_Val1348delinsArgAla;Ala1350_Gly1355del;Leu1357_Asp1358delinsVal;Glu1360_Ser1361del;Ala1363_Trp1364del;Ala1366_Gln1374del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523355" }, { "coordinates": [ { "allele": "", "end": 4212, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4121 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.2:c.4012_4102del" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Pro1338AlafsTer?", "hgvsWellDefined": "NP_066399.2:p.[Pro1338Ala;Ser1340_Ser1345delinsArgLeuArg;Glu1347_Leu1351delinsGlyHisSer;Asp1353_Pro1358delinsGlyProTrpThr;Asp1360del;Ala1362_Val1364delinsValLeuPro;Leu1367_Ser1368del;Glu1370_Val1371delinsArgAla;Ala1373_Gly1378del;Leu1380_Asp1381delinsVal;Glu1383_Ser1384del;Ala1386_Trp1387del;Ala1389_Gln1397del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS526032" }, { "coordinates": [ { "allele": "", "end": 4120, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4029 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.4:c.3943_4033del" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Pro1315AlafsTer?", "hgvsWellDefined": "XP_005255588.2:p.[Pro1315Ala;Ser1317_Ser1322delinsArgLeuArg;Glu1324_Leu1328delinsGlyHisSer;Asp1330_Pro1335delinsGlyProTrpThr;Asp1337del;Ala1339_Val1341delinsValLeuPro;Leu1344_Ser1345del;Glu1347_Val1348delinsArgAla;Ala1350_Gly1355del;Leu1357_Asp1358delinsVal;Glu1360_Ser1361del;Ala1363_Trp1364del;Ala1366_Gln1374del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS534295" }, { "coordinates": [ { "allele": "", "end": 4372, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4281 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.2:c.4195_4285del" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Pro1399AlafsTer?", "hgvsWellDefined": "XP_011520938.1:p.[Pro1399Ala;Ser1401_Ser1406delinsArgLeuArg;Glu1408_Leu1412delinsGlyHisSer;Asp1414_Pro1419delinsGlyProTrpThr;Asp1421del;Ala1423_Val1425delinsValLeuPro;Leu1428_Ser1429del;Glu1431_Val1432delinsArgAla;Ala1434_Gly1439del;Leu1441_Asp1442delinsVal;Glu1444_Ser1445del;Ala1447_Trp1448del;Ala1450_Gln1458del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "", "end": 4369, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4278 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.4192_4282del" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Pro1398AlafsTer?", "hgvsWellDefined": "XP_011520939.1:p.[Pro1398Ala;Ser1400_Ser1405delinsArgLeuArg;Glu1407_Leu1411delinsGlyHisSer;Asp1413_Pro1418delinsGlyProTrpThr;Asp1420del;Ala1422_Val1424delinsValLeuPro;Leu1427_Ser1428del;Glu1430_Val1431delinsArgAla;Ala1433_Gly1438del;Leu1440_Asp1441delinsVal;Glu1443_Ser1444del;Ala1446_Trp1447del;Ala1449_Gln1457del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "", "end": 4465, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4374 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.4357_4447del" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Pro1453AlafsTer?", "hgvsWellDefined": "XP_011520940.2:p.[Pro1453Ala;Ser1455_Ser1460delinsArgLeuArg;Glu1462_Leu1466delinsGlyHisSer;Asp1468_Pro1473delinsGlyProTrpThr;Asp1475del;Ala1477_Val1479delinsValLeuPro;Leu1482_Ser1483del;Glu1485_Val1486delinsArgAla;Ala1488_Gly1493del;Leu1495_Asp1496delinsVal;Glu1498_Ser1499del;Ala1501_Trp1502del;Ala1504_Gln1512del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "", "end": 4243, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4152 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.4066_4156del" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Pro1356AlafsTer?", "hgvsWellDefined": "XP_011520941.1:p.[Pro1356Ala;Ser1358_Ser1363delinsArgLeuArg;Glu1365_Leu1369delinsGlyHisSer;Asp1371_Pro1376delinsGlyProTrpThr;Asp1378del;Ala1380_Val1382delinsValLeuPro;Leu1385_Ser1386del;Glu1388_Val1389delinsArgAla;Ala1391_Gly1396del;Leu1398_Asp1399delinsVal;Glu1401_Ser1402del;Ala1404_Trp1405del;Ala1407_Gln1415del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "", "end": 4240, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4149 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.4063_4153del" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Pro1355AlafsTer?", "hgvsWellDefined": "XP_011520942.1:p.[Pro1355Ala;Ser1357_Ser1362delinsArgLeuArg;Glu1364_Leu1368delinsGlyHisSer;Asp1370_Pro1375delinsGlyProTrpThr;Asp1377del;Ala1379_Val1381delinsValLeuPro;Leu1384_Ser1385del;Glu1387_Val1388delinsArgAla;Ala1390_Gly1395del;Leu1397_Asp1398delinsVal;Glu1400_Ser1401del;Ala1403_Trp1404del;Ala1406_Gln1414del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "", "end": 4315, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4224 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.4138_4228del" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Pro1380AlafsTer?", "hgvsWellDefined": "XP_016879104.1:p.[Pro1380Ala;Ser1382_Ser1387delinsArgLeuArg;Glu1389_Leu1393delinsGlyHisSer;Asp1395_Pro1400delinsGlyProTrpThr;Asp1402del;Ala1404_Val1406delinsValLeuPro;Leu1409_Ser1410del;Glu1412_Val1413delinsArgAla;Ala1415_Gly1420del;Leu1422_Asp1423delinsVal;Glu1425_Ser1426del;Ala1428_Trp1429del;Ala1431_Gln1439del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "", "end": 4186, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4095 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.4009_4099del" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Pro1337AlafsTer?", "hgvsWellDefined": "XP_016879105.1:p.[Pro1337Ala;Ser1339_Ser1344delinsArgLeuArg;Glu1346_Leu1350delinsGlyHisSer;Asp1352_Pro1357delinsGlyProTrpThr;Asp1359del;Ala1361_Val1363delinsValLeuPro;Leu1366_Ser1367del;Glu1369_Val1370delinsArgAla;Ala1372_Gly1377del;Leu1379_Asp1380delinsVal;Glu1382_Ser1383del;Ala1385_Trp1386del;Ala1388_Gln1396del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "", "end": 4213, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4122 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.4105_4195del" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Pro1369AlafsTer?", "hgvsWellDefined": "XP_016879106.1:p.[Pro1369Ala;Ser1371_Ser1376delinsArgLeuArg;Glu1378_Leu1382delinsGlyHisSer;Asp1384_Pro1389delinsGlyProTrpThr;Asp1391del;Ala1393_Val1395delinsValLeuPro;Leu1398_Ser1399del;Glu1401_Val1402delinsArgAla;Ala1404_Gly1409del;Leu1411_Asp1412delinsVal;Glu1414_Ser1415del;Ala1417_Trp1418del;Ala1420_Gln1428del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "", "end": 4459, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4368 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.2851_2941del" ], "proteinEffect": { "hgvs": "XP_016879107.1:p.Pro951AlafsTer?", "hgvsWellDefined": "XP_016879107.1:p.[Pro951Ala;Ser953_Ser958delinsArgLeuArg;Glu960_Leu964delinsGlyHisSer;Asp966_Pro971delinsGlyProTrpThr;Asp973del;Ala975_Val977delinsValLeuPro;Leu980_Ser981del;Glu983_Val984delinsArgAla;Ala986_Gly991del;Leu993_Asp994delinsVal;Glu996_Ser997del;Ala999_Trp1000del;Ala1002_Gln1010del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "", "end": 4117, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4026 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.3940_4030del" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Pro1314AlafsTer?", "hgvsWellDefined": "XP_024306181.1:p.[Pro1314Ala;Ser1316_Ser1321delinsArgLeuArg;Glu1323_Leu1327delinsGlyHisSer;Asp1329_Pro1334delinsGlyProTrpThr;Asp1336del;Ala1338_Val1340delinsValLeuPro;Leu1343_Ser1344del;Glu1346_Val1347delinsArgAla;Ala1349_Gly1354del;Leu1356_Asp1357delinsVal;Glu1359_Ser1360del;Ala1362_Trp1363del;Ala1365_Gln1373del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "coordinates": [ { "allele": "", "end": 4341, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4250 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.4141_4231del" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Pro1381AlafsTer?", "hgvsWellDefined": "NP_000539.2:p.[Pro1381Ala;Ser1383_Ser1388delinsArgLeuArg;Glu1390_Leu1394delinsGlyHisSer;Asp1396_Pro1401delinsGlyProTrpThr;Asp1403del;Ala1405_Val1407delinsValLeuPro;Leu1410_Ser1411del;Glu1413_Val1414delinsArgAla;Ala1416_Gly1421del;Leu1423_Asp1424delinsVal;Glu1426_Ser1427del;Ala1429_Trp1430del;Ala1432_Gln1440del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.4141_4231del" }, "RefSeq": { "hgvs": "NM_000548.5:c.4141_4231del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Pro1381AlafsTer?" }, "RefSeq": { "hgvs": "NP_000539.2:p.Pro1381AlafsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 4209, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4118 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.4009_4099del" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Pro1337AlafsTer?", "hgvsWellDefined": "NP_001357333.1:p.[Pro1337Ala;Ser1339_Ser1344delinsArgLeuArg;Glu1346_Leu1350delinsGlyHisSer;Asp1352_Pro1357delinsGlyProTrpThr;Asp1359del;Ala1361_Val1363delinsValLeuPro;Leu1366_Ser1367del;Glu1369_Val1370delinsArgAla;Ala1372_Gly1377del;Leu1379_Asp1380delinsVal;Glu1382_Ser1383del;Ala1385_Trp1386del;Ala1388_Gln1396del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "coordinates": [ { "allele": "", "end": 4212, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4121 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.4012_4102del" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Pro1338AlafsTer?", "hgvsWellDefined": "NP_001357334.1:p.[Pro1338Ala;Ser1340_Ser1345delinsArgLeuArg;Glu1347_Leu1351delinsGlyHisSer;Asp1353_Pro1358delinsGlyProTrpThr;Asp1360del;Ala1362_Val1364delinsValLeuPro;Leu1367_Ser1368del;Glu1370_Val1371delinsArgAla;Ala1373_Gly1378del;Leu1380_Asp1381delinsVal;Glu1383_Ser1384del;Ala1386_Trp1387del;Ala1389_Gln1397del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "coordinates": [ { "allele": "", "end": 4140, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4049 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.3940_4030del" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Pro1314AlafsTer?", "hgvsWellDefined": "NP_001070651.1:p.[Pro1314Ala;Ser1316_Ser1321delinsArgLeuArg;Glu1323_Leu1327delinsGlyHisSer;Asp1329_Pro1334delinsGlyProTrpThr;Asp1336del;Ala1338_Val1340delinsValLeuPro;Leu1343_Ser1344del;Glu1346_Val1347delinsArgAla;Ala1349_Gly1354del;Leu1356_Asp1357delinsVal;Glu1359_Ser1360del;Ala1362_Trp1363del;Ala1365_Gln1373del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "coordinates": [ { "allele": "", "end": 4272, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4181 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.4072_4162del" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Pro1358AlafsTer?", "hgvsWellDefined": "NP_001107854.1:p.[Pro1358Ala;Ser1360_Ser1365delinsArgLeuArg;Glu1367_Leu1371delinsGlyHisSer;Asp1373_Pro1378delinsGlyProTrpThr;Asp1380del;Ala1382_Val1384delinsValLeuPro;Leu1387_Ser1388del;Glu1390_Val1391delinsArgAla;Ala1393_Gly1398del;Leu1400_Asp1401delinsVal;Glu1403_Ser1404del;Ala1406_Trp1407del;Ala1409_Gln1417del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "coordinates": [ { "allele": "", "end": 4032, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 3941 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.3832_3922del" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Pro1278AlafsTer?", "hgvsWellDefined": "NP_001305756.1:p.[Pro1278Ala;Ser1280_Ser1285delinsArgLeuArg;Glu1287_Leu1291delinsGlyHisSer;Asp1293_Pro1298delinsGlyProTrpThr;Asp1300del;Ala1302_Val1304delinsValLeuPro;Leu1307_Ser1308del;Glu1310_Val1311delinsArgAla;Ala1313_Gly1318del;Leu1320_Asp1321delinsVal;Glu1323_Ser1324del;Ala1326_Trp1327del;Ala1329_Gln1337del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "coordinates": [ { "allele": "", "end": 3976, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 3885 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.3796_3886del" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Pro1266AlafsTer?", "hgvsWellDefined": "NP_001305758.1:p.[Pro1266Ala;Ser1268_Ser1273delinsArgLeuArg;Glu1275_Leu1279delinsGlyHisSer;Asp1281_Pro1286delinsGlyProTrpThr;Asp1288del;Ala1290_Val1292delinsValLeuPro;Leu1295_Ser1296del;Glu1298_Val1299delinsArgAla;Ala1301_Gly1306del;Leu1308_Asp1309delinsVal;Glu1311_Ser1312del;Ala1314_Trp1315del;Ala1317_Gln1325del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "coordinates": [ { "allele": "", "end": 3835, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.3409_3499del" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Pro1137AlafsTer?", "hgvsWellDefined": "NP_001305760.1:p.[Pro1137Ala;Ser1139_Ser1144delinsArgLeuArg;Glu1146_Leu1150delinsGlyHisSer;Asp1152_Pro1157delinsGlyProTrpThr;Asp1159del;Ala1161_Val1163delinsValLeuPro;Leu1166_Ser1167del;Glu1169_Val1170delinsArgAla;Ala1172_Gly1177del;Leu1179_Asp1180delinsVal;Glu1182_Ser1183del;Ala1185_Trp1186del;Ala1188_Gln1196del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "coordinates": [ { "allele": "", "end": 4131, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4040 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.3973_4063del" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Pro1325AlafsTer?", "hgvsWellDefined": "NP_001305761.1:p.[Pro1325Ala;Ser1327_Ser1332delinsArgLeuArg;Glu1334_Leu1338delinsGlyHisSer;Asp1340_Pro1345delinsGlyProTrpThr;Asp1347del;Ala1349_Val1351delinsValLeuPro;Leu1354_Ser1355del;Glu1357_Val1358delinsArgAla;Ala1360_Gly1365del;Leu1367_Asp1368delinsVal;Glu1370_Ser1371del;Ala1373_Trp1374del;Ala1376_Gln1384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "coordinates": [ { "allele": "", "end": 4143, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4052 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.3943_4033del" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Pro1315AlafsTer?", "hgvsWellDefined": "NP_001350457.1:p.[Pro1315Ala;Ser1317_Ser1322delinsArgLeuArg;Glu1324_Leu1328delinsGlyHisSer;Asp1330_Pro1335delinsGlyProTrpThr;Asp1337del;Ala1339_Val1341delinsValLeuPro;Leu1344_Ser1345del;Glu1347_Val1348delinsArgAla;Ala1350_Gly1355del;Leu1357_Asp1358delinsVal;Glu1360_Ser1361del;Ala1363_Trp1364del;Ala1366_Gln1374del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "coordinates": [ { "allele": "", "end": 4212, "referenceAllele": "CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGA", "start": 4121 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.4012_4102del" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Pro1338AlafsTer?", "hgvsWellDefined": "NP_066399.2:p.[Pro1338Ala;Ser1340_Ser1345delinsArgLeuArg;Glu1347_Leu1351delinsGlyHisSer;Asp1353_Pro1358delinsGlyProTrpThr;Asp1360del;Ala1362_Val1364delinsValLeuPro;Leu1367_Ser1368del;Glu1370_Val1371delinsArgAla;Ala1373_Gly1378del;Leu1380_Asp1381delinsVal;Glu1383_Ser1384del;Ala1386_Trp1387del;Ala1389_Gln1397del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }