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"http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.4003_4004del" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Ser1335AlafsTer?", "hgvsWellDefined": "XP_016879105.1:p.[Ser1335_Gln1336delinsAlaAla;Leu1338_Ser1343delinsGluGlnValGlnLeuLeu;Pro1345_Leu1354delinsArgAlaAlaAspSerAlaGlyHisProArg;Asp1356_Pro1357delinsProTrp;Asp1359_Gly1364delinsGlnGlyArgArgGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "", "end": 4118, "referenceAllele": "TC", "start": 4116 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.4099_4100del" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Ser1367AlafsTer?", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.3934_3935del" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Ser1312AlafsTer?", "hgvsWellDefined": "XP_024306181.1:p.[Ser1312_Gln1313delinsAlaAla;Leu1315_Ser1320delinsGluGlnValGlnLeuLeu;Pro1322_Leu1331delinsArgAlaAlaAspSerAlaGlyHisProArg;Asp1333_Pro1334delinsProTrp;Asp1336_Gly1341delinsGlnGlyArgArgGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "coordinates": [ { "allele": "", "end": 4246, "referenceAllele": "TC", "start": 4244 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.4135_4136del" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Ser1379AlafsTer?", "hgvsWellDefined": "NP_000539.2:p.[Ser1379_Gln1380delinsAlaAla;Leu1382_Ser1387delinsGluGlnValGlnLeuLeu;Pro1389_Leu1398delinsArgAlaAlaAspSerAlaGlyHisProArg;Asp1400_Pro1401delinsProTrp;Asp1403_Gly1408delinsGlnGlyArgArgGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.4135_4136del" }, "RefSeq": { "hgvs": "NM_000548.5:c.4135_4136del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Ser1379AlafsTer?" }, "RefSeq": { "hgvs": "NP_000539.2:p.Ser1379AlafsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 4114, "referenceAllele": "TC", "start": 4112 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.4003_4004del" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Ser1335AlafsTer?", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.3934_3935del" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Ser1312AlafsTer?", "hgvsWellDefined": "NP_001070651.1:p.[Ser1312_Gln1313delinsAlaAla;Leu1315_Ser1320delinsGluGlnValGlnLeuLeu;Pro1322_Leu1331delinsArgAlaAlaAspSerAlaGlyHisProArg;Asp1333_Pro1334delinsProTrp;Asp1336_Gly1341delinsGlnGlyArgArgGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "coordinates": [ { "allele": "", "end": 4177, "referenceAllele": "TC", "start": 4175 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.4066_4067del" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Ser1356AlafsTer?", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.3790_3791del" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Ser1264AlafsTer?", "hgvsWellDefined": "NP_001305758.1:p.[Ser1264_Gln1265delinsAlaAla;Leu1267_Ser1272delinsGluGlnValGlnLeuLeu;Pro1274_Leu1283delinsArgAlaAlaAspSerAlaGlyHisProArg;Asp1285_Pro1286delinsProTrp;Asp1288_Gly1293delinsGlnGlyArgArgGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "coordinates": [ { "allele": "", "end": 3740, "referenceAllele": "TC", "start": 3738 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.3403_3404del" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Ser1135AlafsTer?", "hgvsWellDefined": "NP_001305760.1:p.[Ser1135_Gln1136delinsAlaAla;Leu1138_Ser1143delinsGluGlnValGlnLeuLeu;Pro1145_Leu1154delinsArgAlaAlaAspSerAlaGlyHisProArg;Asp1156_Pro1157delinsProTrp;Asp1159_Gly1164delinsGlnGlyArgArgGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "coordinates": [ { "allele": "", "end": 4036, "referenceAllele": "TC", "start": 4034 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.3967_3968del" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Ser1323AlafsTer?", "hgvsWellDefined": "NP_001305761.1:p.[Ser1323_Gln1324delinsAlaAla;Leu1326_Ser1331delinsGluGlnValGlnLeuLeu;Pro1333_Leu1342delinsArgAlaAlaAspSerAlaGlyHisProArg;Asp1344_Pro1345delinsProTrp;Asp1347_Gly1352delinsGlnGlyArgArgGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "coordinates": [ { "allele": "", "end": 4048, "referenceAllele": "TC", "start": 4046 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.3937_3938del" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Ser1313AlafsTer?", "hgvsWellDefined": "NP_001350457.1:p.[Ser1313_Gln1314delinsAlaAla;Leu1316_Ser1321delinsGluGlnValGlnLeuLeu;Pro1323_Leu1332delinsArgAlaAlaAspSerAlaGlyHisProArg;Asp1334_Pro1335delinsProTrp;Asp1337_Gly1342delinsGlnGlyArgArgGlyPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "coordinates": [ { "allele": "", "end": 4117, "referenceAllele": "TC", "start": 4115 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.4006_4007del" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Ser1336AlafsTer?", "hgvsWellDefined": 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