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  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.4077_4144del (p.Arg1361GlnfsTer?)"
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        "maneStatus": "MANE Select",
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        }
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    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
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      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS760583"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS760618"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
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    {
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS767136"
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      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
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    {
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
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    {
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          "referenceAllele": "CGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCC",
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      ],
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
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    {
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          "referenceAllele": "CGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCC",
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        }
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Arg931GlnfsTer?",
        "hgvsWellDefined": "XP_016879107.1:p.[Arg931Gln;Val933_Gly938delinsGlnLeuLeuSer;Pro940_Val942delinsAlaAla;Leu944del;Phe946_Gln950delinsAlaGlyHis;Leu952_Ser958delinsArgGly;Glu960_Leu961delinsTrpGly;Thr963_Leu968delinsGlyArgArg;Asp970del;Gly972_Lys974del;Asp976_Ser981delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4030,
          "referenceAllele": "CGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCC",
          "start": 3962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.3876_3943del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Arg1294GlnfsTer?",
        "hgvsWellDefined": "XP_024306181.1:p.[Arg1294Gln;Val1296_Gly1301delinsGlnLeuLeuSer;Pro1303_Val1305delinsAlaAla;Leu1307del;Phe1309_Gln1313delinsAlaGlyHis;Leu1315_Ser1321delinsArgGly;Glu1323_Leu1324delinsTrpGly;Thr1326_Leu1331delinsGlyArgArg;Asp1333del;Gly1335_Lys1337del;Asp1339_Ser1344delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4254,
          "referenceAllele": "CGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCC",
          "start": 4186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.4077_4144del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Arg1361GlnfsTer?",
        "hgvsWellDefined": "NP_000539.2:p.[Arg1361Gln;Val1363_Gly1368delinsGlnLeuLeuSer;Pro1370_Val1372delinsAlaAla;Leu1374del;Phe1376_Gln1380delinsAlaGlyHis;Leu1382_Ser1388delinsArgGly;Glu1390_Leu1391delinsTrpGly;Thr1393_Leu1398delinsGlyArgArg;Asp1400del;Gly1402_Lys1404del;Asp1406_Ser1411delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4077_4144del"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4077_4144del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Arg1361GlnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Arg1361GlnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4122,
          "referenceAllele": "CGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCC",
          "start": 4054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.3945_4012del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Arg1317GlnfsTer?",
        "hgvsWellDefined": "NP_001357333.1:p.[Arg1317Gln;Val1319_Gly1324delinsGlnLeuLeuSer;Pro1326_Val1328delinsAlaAla;Leu1330del;Phe1332_Gln1336delinsAlaGlyHis;Leu1338_Ser1344delinsArgGly;Glu1346_Leu1347delinsTrpGly;Thr1349_Leu1354delinsGlyArgArg;Asp1356del;Gly1358_Lys1360del;Asp1362_Ser1367delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4125,
          "referenceAllele": "CGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCC",
          "start": 4057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.3948_4015del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Arg1318GlnfsTer?",
        "hgvsWellDefined": "NP_001357334.1:p.[Arg1318Gln;Val1320_Gly1325delinsGlnLeuLeuSer;Pro1327_Val1329delinsAlaAla;Leu1331del;Phe1333_Gln1337delinsAlaGlyHis;Leu1339_Ser1345delinsArgGly;Glu1347_Leu1348delinsTrpGly;Thr1350_Leu1355delinsGlyArgArg;Asp1357del;Gly1359_Lys1361del;Asp1363_Ser1368delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4053,
          "referenceAllele": "CGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCC",
          "start": 3985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.3876_3943del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Arg1294GlnfsTer?",
        "hgvsWellDefined": "NP_001070651.1:p.[Arg1294Gln;Val1296_Gly1301delinsGlnLeuLeuSer;Pro1303_Val1305delinsAlaAla;Leu1307del;Phe1309_Gln1313delinsAlaGlyHis;Leu1315_Ser1321delinsArgGly;Glu1323_Leu1324delinsTrpGly;Thr1326_Leu1331delinsGlyArgArg;Asp1333del;Gly1335_Lys1337del;Asp1339_Ser1344delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4185,
          "referenceAllele": "CGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCC",
          "start": 4117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.4008_4075del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Arg1338GlnfsTer?",
        "hgvsWellDefined": "NP_001107854.1:p.[Arg1338Gln;Val1340_Gly1345delinsGlnLeuLeuSer;Pro1347_Val1349delinsAlaAla;Leu1351del;Phe1353_Gln1357delinsAlaGlyHis;Leu1359_Ser1365delinsArgGly;Glu1367_Leu1368delinsTrpGly;Thr1370_Leu1375delinsGlyArgArg;Asp1377del;Gly1379_Lys1381del;Asp1383_Ser1388delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3945,
          "referenceAllele": "CGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCC",
          "start": 3877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.3768_3835del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Arg1258GlnfsTer?",
        "hgvsWellDefined": "NP_001305756.1:p.[Arg1258Gln;Val1260_Gly1265delinsGlnLeuLeuSer;Pro1267_Val1269delinsAlaAla;Leu1271del;Phe1273_Gln1277delinsAlaGlyHis;Leu1279_Ser1285delinsArgGly;Glu1287_Leu1288delinsTrpGly;Thr1290_Leu1295delinsGlyArgArg;Asp1297del;Gly1299_Lys1301del;Asp1303_Ser1308delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3889,
          "referenceAllele": "CGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCC",
          "start": 3821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.3732_3799del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Arg1246GlnfsTer?",
        "hgvsWellDefined": "NP_001305758.1:p.[Arg1246Gln;Val1248_Gly1253delinsGlnLeuLeuSer;Pro1255_Val1257delinsAlaAla;Leu1259del;Phe1261_Gln1265delinsAlaGlyHis;Leu1267_Ser1273delinsArgGly;Glu1275_Leu1276delinsTrpGly;Thr1278_Leu1283delinsGlyArgArg;Asp1285del;Gly1287_Lys1289del;Asp1291_Ser1296delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3748,
          "referenceAllele": "CGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCC",
          "start": 3680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.3345_3412del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Arg1117GlnfsTer?",
        "hgvsWellDefined": "NP_001305760.1:p.[Arg1117Gln;Val1119_Gly1124delinsGlnLeuLeuSer;Pro1126_Val1128delinsAlaAla;Leu1130del;Phe1132_Gln1136delinsAlaGlyHis;Leu1138_Ser1144delinsArgGly;Glu1146_Leu1147delinsTrpGly;Thr1149_Leu1154delinsGlyArgArg;Asp1156del;Gly1158_Lys1160del;Asp1162_Ser1167delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4044,
          "referenceAllele": "CGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCC",
          "start": 3976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.3909_3976del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Arg1305GlnfsTer?",
        "hgvsWellDefined": "NP_001305761.1:p.[Arg1305Gln;Val1307_Gly1312delinsGlnLeuLeuSer;Pro1314_Val1316delinsAlaAla;Leu1318del;Phe1320_Gln1324delinsAlaGlyHis;Leu1326_Ser1332delinsArgGly;Glu1334_Leu1335delinsTrpGly;Thr1337_Leu1342delinsGlyArgArg;Asp1344del;Gly1346_Lys1348del;Asp1350_Ser1355delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4056,
          "referenceAllele": "CGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCC",
          "start": 3988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.3879_3946del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Arg1295GlnfsTer?",
        "hgvsWellDefined": "NP_001350457.1:p.[Arg1295Gln;Val1297_Gly1302delinsGlnLeuLeuSer;Pro1304_Val1306delinsAlaAla;Leu1308del;Phe1310_Gln1314delinsAlaGlyHis;Leu1316_Ser1322delinsArgGly;Glu1324_Leu1325delinsTrpGly;Thr1327_Leu1332delinsGlyArgArg;Asp1334del;Gly1336_Lys1338del;Asp1340_Ser1345delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4125,
          "referenceAllele": "CGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCC",
          "start": 4057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Arg1318GlnfsTer?",
        "hgvsWellDefined": "NP_066399.2:p.[Arg1318Gln;Val1320_Gly1325delinsGlnLeuLeuSer;Pro1327_Val1329delinsAlaAla;Leu1331del;Phe1333_Gln1337delinsAlaGlyHis;Leu1339_Ser1345delinsArgGly;Glu1347_Leu1348delinsTrpGly;Thr1350_Leu1355delinsGlyArgArg;Asp1357del;Gly1359_Lys1361del;Asp1363_Ser1368delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}