{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3265648711",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.4139_4140insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1380HisfsTer34)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 2084361,
          "referenceAllele": "",
          "start": 2084361
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2084361_2084362insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
        "CM000678.2:g.2084361_2084362insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 2134362,
          "referenceAllele": "",
          "start": 2134362
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2134362_2134363insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
        "CM000678.1:g.2134362_2134363insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 2074363,
          "referenceAllele": "",
          "start": 2074363
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2074363_2074364insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 40056,
          "referenceAllele": "",
          "start": 40056
        }
      ],
      "hgvs": [
        "NG_005895.1:g.40056_40057insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
        "LRG_487:g.40056_40057insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 3970,
          "referenceAllele": "",
          "start": 3970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*2488_*2489insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*2488_*2489insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4102,
          "referenceAllele": "",
          "start": 4102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.3986_3987insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Gln1329HisfsTer34",
        "hgvsWellDefined": "ENSP00000495146.2:p.[Gln1329_Pro1330delinsHisGluValAlaCys;Ser1332_Ser1336delinsHisGlyProArgVal;Pro1338_Thr1342delinsValGlyValGlyValCys;Gln1344_Asp1345delinsTyrSerGln;Gly1348_Arg1358delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4207,
          "referenceAllele": "",
          "start": 4207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.4136_4137insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Gln1379HisfsTer34",
        "hgvsWellDefined": "ENSP00000495459.2:p.[Gln1379_Pro1380delinsHisGluValAlaCys;Ser1382_Ser1386delinsHisGlyProArgVal;Pro1388_Thr1392delinsValGlyValGlyValCys;Gln1394_Asp1395delinsTyrSerGln;Gly1398_Arg1408delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 5174,
          "referenceAllele": "",
          "start": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*4519_*4520insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*4519_*4520insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 7226,
          "referenceAllele": "",
          "start": 7226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*6888_*6889insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*6888_*6889insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4249,
          "referenceAllele": "",
          "start": 4249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.4139_4140insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Gln1380HisfsTer34",
        "hgvsWellDefined": "ENSP00000219476.3:p.[Gln1380_Pro1381delinsHisGluValAlaCys;Ser1383_Ser1387delinsHisGlyProArgVal;Pro1389_Thr1393delinsValGlyValGlyValCys;Gln1395_Asp1396delinsTyrSerGln;Gly1399_Arg1409delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4139_4140insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4139_4140insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Gln1380HisfsTer34"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Gln1380HisfsTer34"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4145,
          "referenceAllele": "",
          "start": 4145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.4070_4071insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Gln1357HisfsTer34",
        "hgvsWellDefined": "ENSP00000344383.4:p.[Gln1357_Pro1358delinsHisGluValAlaCys;Ser1360_Ser1364delinsHisGlyProArgVal;Pro1366_Thr1370delinsValGlyValGlyValCys;Gln1372_Asp1373delinsTyrSerGln;Gly1376_Arg1386delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4044,
          "referenceAllele": "",
          "start": 4044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.3938_3939insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Gln1313HisfsTer34",
        "hgvsWellDefined": "ENSP00000384468.2:p.[Gln1313_Pro1314delinsHisGluValAlaCys;Ser1316_Ser1320delinsHisGlyProArgVal;Pro1322_Thr1326delinsValGlyValGlyValCys;Gln1328_Asp1329delinsTyrSerGln;Gly1332_Arg1342delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4039,
          "referenceAllele": "",
          "start": 4039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.3971_3972insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Gln1324HisfsTer34",
        "hgvsWellDefined": "ENSP00000454487.1:p.[Gln1324_Pro1325delinsHisGluValAlaCys;Ser1327_Ser1331delinsHisGlyProArgVal;Pro1333_Thr1337delinsValGlyValGlyValCys;Gln1339_Asp1340delinsTyrSerGln;Gly1343_Arg1353delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 375,
          "referenceAllele": "",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.2:c.375_376insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760583"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 2021,
          "referenceAllele": "",
          "start": 2021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.2:n.2021_2022insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760618"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 2793,
          "referenceAllele": "",
          "start": 2793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.2793_2794insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4062,
          "referenceAllele": "",
          "start": 4062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.4010_4011insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Gln1337HisfsTer34",
        "hgvsWellDefined": "ENSP00000495099.1:p.[Gln1337_Pro1338delinsHisGluValAlaCys;Ser1340_Ser1344delinsHisGlyProArgVal;Pro1346_Thr1350delinsValGlyValGlyValCys;Gln1352_Asp1353delinsTyrSerGln;Gly1356_Arg1366delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 321,
          "referenceAllele": "",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642728.1:n.321_322insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766898"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 3995,
          "referenceAllele": "",
          "start": 3995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.3941_3942insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Gln1314HisfsTer34",
        "hgvsWellDefined": "ENSP00000493846.1:p.[Gln1314_Pro1315delinsHisGluValAlaCys;Ser1317_Ser1321delinsHisGlyProArgVal;Pro1323_Thr1327delinsValGlyValGlyValCys;Gln1329_Asp1330delinsTyrSerGln;Gly1333_Arg1343delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4116,
          "referenceAllele": "",
          "start": 4116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.4007_4008insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Gln1336HisfsTer34",
        "hgvsWellDefined": "ENSP00000494514.1:p.[Gln1336_Pro1337delinsHisGluValAlaCys;Ser1339_Ser1343delinsHisGlyProArgVal;Pro1345_Thr1349delinsValGlyValGlyValCys;Gln1351_Asp1352delinsTyrSerGln;Gly1355_Arg1365delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4056,
          "referenceAllele": "",
          "start": 4056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.3938_3939insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Gln1313HisfsTer34",
        "hgvsWellDefined": "ENSP00000494747.1:p.[Gln1313_Pro1314delinsHisGluValAlaCys;Ser1316_Ser1320delinsHisGlyProArgVal;Pro1322_Thr1326delinsValGlyValGlyValCys;Gln1328_Asp1329delinsTyrSerGln;Gly1332_Arg1342delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 153,
          "referenceAllele": "",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643177.1:n.153_154insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767136"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 1787,
          "referenceAllele": "",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643426.1:n.1787_1788insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767277"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4188,
          "referenceAllele": "",
          "start": 4188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.4070_4071insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Gln1357HisfsTer34",
        "hgvsWellDefined": "ENSP00000495927.1:p.[Gln1357_Pro1358delinsHisGluValAlaCys;Ser1360_Ser1364delinsHisGlyProArgVal;Pro1366_Thr1370delinsValGlyValGlyValCys;Gln1372_Asp1373delinsTyrSerGln;Gly1376_Arg1386delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4064,
          "referenceAllele": "",
          "start": 4064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.4010_4011insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Gln1337HisfsTer34",
        "hgvsWellDefined": "ENSP00000496262.1:p.[Gln1337_Pro1338delinsHisGluValAlaCys;Ser1340_Ser1344delinsHisGlyProArgVal;Pro1346_Thr1350delinsValGlyValGlyValCys;Gln1352_Asp1353delinsTyrSerGln;Gly1356_Arg1366delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4000,
          "referenceAllele": "",
          "start": 4000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.3938_3939insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Gln1313HisfsTer34",
        "hgvsWellDefined": "ENSP00000496611.1:p.[Gln1313_Pro1314delinsHisGluValAlaCys;Ser1316_Ser1320delinsHisGlyProArgVal;Pro1322_Thr1326delinsValGlyValGlyValCys;Gln1328_Asp1329delinsTyrSerGln;Gly1332_Arg1342delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4041,
          "referenceAllele": "",
          "start": 4041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.3941_3942insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Gln1314HisfsTer34",
        "hgvsWellDefined": "ENSP00000496317.1:p.[Gln1314_Pro1315delinsHisGluValAlaCys;Ser1317_Ser1321delinsHisGlyProArgVal;Pro1323_Thr1327delinsValGlyValGlyValCys;Gln1329_Asp1330delinsTyrSerGln;Gly1333_Arg1343delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4060,
          "referenceAllele": "",
          "start": 4060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.4060_4061insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 2223,
          "referenceAllele": "",
          "start": 2223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.2223_2224insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 382,
          "referenceAllele": "",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645186.1:c.382_383insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768213"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4225,
          "referenceAllele": "",
          "start": 4225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.4139_4140insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Gln1380HisfsTer34",
        "hgvsWellDefined": "ENSP00000495921.1:p.[Gln1380_Pro1381delinsHisGluValAlaCys;Ser1383_Ser1387delinsHisGlyProArgVal;Pro1389_Thr1393delinsValGlyValGlyValCys;Gln1395_Asp1396delinsTyrSerGln;Gly1399_Arg1409delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 2954,
          "referenceAllele": "",
          "start": 2954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.2954_2955insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 1391,
          "referenceAllele": "",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646674.1:n.1391_1392insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769003"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 1362,
          "referenceAllele": "",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647042.1:n.1362_1363insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769203"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 1252,
          "referenceAllele": "",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647180.1:n.1252_1253insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769277"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4769,
          "referenceAllele": "",
          "start": 4769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.4139_4140insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Gln1380HisfsTer34",
        "hgvsWellDefined": "ENSP00000219476.3:p.[Gln1380_Pro1381delinsHisGluValAlaCys;Ser1383_Ser1387delinsHisGlyProArgVal;Pro1389_Thr1393delinsValGlyValGlyValCys;Gln1395_Asp1396delinsTyrSerGln;Gly1399_Arg1409delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4145,
          "referenceAllele": "",
          "start": 4145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.4070_4071insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Gln1357HisfsTer34",
        "hgvsWellDefined": "ENSP00000344383.4:p.[Gln1357_Pro1358delinsHisGluValAlaCys;Ser1360_Ser1364delinsHisGlyProArgVal;Pro1366_Thr1370delinsValGlyValGlyValCys;Gln1372_Asp1373delinsTyrSerGln;Gly1376_Arg1386delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 3889,
          "referenceAllele": "",
          "start": 3889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.3794_3795insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Gln1265HisfsTer34",
        "hgvsWellDefined": "ENSP00000371978.6:p.[Gln1265_Pro1266delinsHisGluValAlaCys;Ser1268_Ser1272delinsHisGlyProArgVal;Pro1274_Thr1278delinsValGlyValGlyValCys;Gln1280_Asp1281delinsTyrSerGln;Gly1284_Arg1294delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4044,
          "referenceAllele": "",
          "start": 4044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.3938_3939insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Gln1313HisfsTer34",
        "hgvsWellDefined": "ENSP00000384468.2:p.[Gln1313_Pro1314delinsHisGluValAlaCys;Ser1316_Ser1320delinsHisGlyProArgVal;Pro1322_Thr1326delinsValGlyValGlyValCys;Gln1328_Asp1329delinsTyrSerGln;Gly1332_Arg1342delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 3695,
          "referenceAllele": "",
          "start": 3695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*3306_*3307insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*3306_*3307insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 3911,
          "referenceAllele": "",
          "start": 3911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.3830_3831insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Gln1277HisfsTer34",
        "hgvsWellDefined": "ENSP00000399232.2:p.[Gln1277_Pro1278delinsHisGluValAlaCys;Ser1280_Ser1284delinsHisGlyProArgVal;Pro1286_Thr1290delinsValGlyValGlyValCys;Gln1292_Asp1293delinsTyrSerGln;Gly1296_Arg1306delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 1897,
          "referenceAllele": "",
          "start": 1897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000497886.5:n.1897_1898insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334013"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4039,
          "referenceAllele": "",
          "start": 4039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.3971_3972insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Gln1324HisfsTer34",
        "hgvsWellDefined": "ENSP00000454487.1:p.[Gln1324_Pro1325delinsHisGluValAlaCys;Ser1327_Ser1331delinsHisGlyProArgVal;Pro1333_Thr1337delinsValGlyValGlyValCys;Gln1339_Asp1340delinsTyrSerGln;Gly1343_Arg1353delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 321,
          "referenceAllele": "",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.1:c.321_322insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246736"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 1254,
          "referenceAllele": "",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.1:n.1254_1255insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381794"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4245,
          "referenceAllele": "",
          "start": 4245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.4139_4140insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
        "LRG_487t1:c.4139_4140insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Gln1380HisfsTer34",
        "hgvsWellDefined": "NP_000539.2:p.[Gln1380_Pro1381delinsHisGluValAlaCys;Ser1383_Ser1387delinsHisGlyProArgVal;Pro1389_Thr1393delinsValGlyValGlyValCys;Gln1395_Asp1396delinsTyrSerGln;Gly1399_Arg1409delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4044,
          "referenceAllele": "",
          "start": 4044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.3938_3939insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Gln1313HisfsTer34",
        "hgvsWellDefined": "NP_001070651.1:p.[Gln1313_Pro1314delinsHisGluValAlaCys;Ser1316_Ser1320delinsHisGlyProArgVal;Pro1322_Thr1326delinsValGlyValGlyValCys;Gln1328_Asp1329delinsTyrSerGln;Gly1332_Arg1342delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4176,
          "referenceAllele": "",
          "start": 4176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.4070_4071insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Gln1357HisfsTer34",
        "hgvsWellDefined": "NP_001107854.1:p.[Gln1357_Pro1358delinsHisGluValAlaCys;Ser1360_Ser1364delinsHisGlyProArgVal;Pro1366_Thr1370delinsValGlyValGlyValCys;Gln1372_Asp1373delinsTyrSerGln;Gly1376_Arg1386delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4097,
          "referenceAllele": "",
          "start": 4097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.4010_4011insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Gln1337HisfsTer34",
        "hgvsWellDefined": "XP_005255586.2:p.[Gln1337_Pro1338delinsHisGluValAlaCys;Ser1340_Ser1344delinsHisGlyProArgVal;Pro1346_Thr1350delinsValGlyValGlyValCys;Gln1352_Asp1353delinsTyrSerGln;Gly1356_Arg1366delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4028,
          "referenceAllele": "",
          "start": 4028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.3941_3942insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Gln1314HisfsTer34",
        "hgvsWellDefined": "XP_005255588.2:p.[Gln1314_Pro1315delinsHisGluValAlaCys;Ser1317_Ser1321delinsHisGlyProArgVal;Pro1323_Thr1327delinsValGlyValGlyValCys;Gln1329_Asp1330delinsTyrSerGln;Gly1333_Arg1343delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4280,
          "referenceAllele": "",
          "start": 4280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.4193_4194insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Gln1398HisfsTer34",
        "hgvsWellDefined": "XP_011520938.1:p.[Gln1398_Pro1399delinsHisGluValAlaCys;Ser1401_Ser1405delinsHisGlyProArgVal;Pro1407_Thr1411delinsValGlyValGlyValCys;Gln1413_Asp1414delinsTyrSerGln;Gly1417_Arg1427delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4277,
          "referenceAllele": "",
          "start": 4277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.4190_4191insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Gln1397HisfsTer34",
        "hgvsWellDefined": "XP_011520939.1:p.[Gln1397_Pro1398delinsHisGluValAlaCys;Ser1400_Ser1404delinsHisGlyProArgVal;Pro1406_Thr1410delinsValGlyValGlyValCys;Gln1412_Asp1413delinsTyrSerGln;Gly1416_Arg1426delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4241,
          "referenceAllele": "",
          "start": 4241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.4082_4083insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Gln1361HisfsTer34",
        "hgvsWellDefined": "XP_011520940.1:p.[Gln1361_Pro1362delinsHisGluValAlaCys;Ser1364_Ser1368delinsHisGlyProArgVal;Pro1370_Thr1374delinsValGlyValGlyValCys;Gln1376_Asp1377delinsTyrSerGln;Gly1380_Arg1390delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4151,
          "referenceAllele": "",
          "start": 4151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.4064_4065insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Gln1355HisfsTer34",
        "hgvsWellDefined": "XP_011520941.1:p.[Gln1355_Pro1356delinsHisGluValAlaCys;Ser1358_Ser1362delinsHisGlyProArgVal;Pro1364_Thr1368delinsValGlyValGlyValCys;Gln1370_Asp1371delinsTyrSerGln;Gly1374_Arg1384delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4148,
          "referenceAllele": "",
          "start": 4148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.4061_4062insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Gln1354HisfsTer34",
        "hgvsWellDefined": "XP_011520942.1:p.[Gln1354_Pro1355delinsHisGluValAlaCys;Ser1357_Ser1361delinsHisGlyProArgVal;Pro1363_Thr1367delinsValGlyValGlyValCys;Gln1369_Asp1370delinsTyrSerGln;Gly1373_Arg1383delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 3989,
          "referenceAllele": "",
          "start": 3989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.3830_3831insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Gln1277HisfsTer34",
        "hgvsWellDefined": "XP_011520943.1:p.[Gln1277_Pro1278delinsHisGluValAlaCys;Ser1280_Ser1284delinsHisGlyProArgVal;Pro1286_Thr1290delinsValGlyValGlyValCys;Gln1292_Asp1293delinsTyrSerGln;Gly1296_Arg1306delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4339,
          "referenceAllele": "",
          "start": 4339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.4139_4140insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Gln1380HisfsTer34",
        "hgvsWellDefined": "NP_000539.2:p.[Gln1380_Pro1381delinsHisGluValAlaCys;Ser1383_Ser1387delinsHisGlyProArgVal;Pro1389_Thr1393delinsValGlyValGlyValCys;Gln1395_Asp1396delinsTyrSerGln;Gly1399_Arg1409delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4138,
          "referenceAllele": "",
          "start": 4138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.3938_3939insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Gln1313HisfsTer34",
        "hgvsWellDefined": "NP_001070651.1:p.[Gln1313_Pro1314delinsHisGluValAlaCys;Ser1316_Ser1320delinsHisGlyProArgVal;Pro1322_Thr1326delinsValGlyValGlyValCys;Gln1328_Asp1329delinsTyrSerGln;Gly1332_Arg1342delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4270,
          "referenceAllele": "",
          "start": 4270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.4070_4071insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Gln1357HisfsTer34",
        "hgvsWellDefined": "NP_001107854.1:p.[Gln1357_Pro1358delinsHisGluValAlaCys;Ser1360_Ser1364delinsHisGlyProArgVal;Pro1366_Thr1370delinsValGlyValGlyValCys;Gln1372_Asp1373delinsTyrSerGln;Gly1376_Arg1386delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4030,
          "referenceAllele": "",
          "start": 4030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.3830_3831insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Gln1277HisfsTer34",
        "hgvsWellDefined": "NP_001305756.1:p.[Gln1277_Pro1278delinsHisGluValAlaCys;Ser1280_Ser1284delinsHisGlyProArgVal;Pro1286_Thr1290delinsValGlyValGlyValCys;Gln1292_Asp1293delinsTyrSerGln;Gly1296_Arg1306delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 3974,
          "referenceAllele": "",
          "start": 3974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.3794_3795insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Gln1265HisfsTer34",
        "hgvsWellDefined": "NP_001305758.1:p.[Gln1265_Pro1266delinsHisGluValAlaCys;Ser1268_Ser1272delinsHisGlyProArgVal;Pro1274_Thr1278delinsValGlyValGlyValCys;Gln1280_Asp1281delinsTyrSerGln;Gly1284_Arg1294delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 3833,
          "referenceAllele": "",
          "start": 3833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.3407_3408insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Gln1136HisfsTer34",
        "hgvsWellDefined": "NP_001305760.1:p.[Gln1136_Pro1137delinsHisGluValAlaCys;Ser1139_Ser1143delinsHisGlyProArgVal;Pro1145_Thr1149delinsValGlyValGlyValCys;Gln1151_Asp1152delinsTyrSerGln;Gly1155_Arg1165delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4039,
          "referenceAllele": "",
          "start": 4039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.3971_3972insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Gln1324HisfsTer34",
        "hgvsWellDefined": "NP_001305761.1:p.[Gln1324_Pro1325delinsHisGluValAlaCys;Ser1327_Ser1331delinsHisGlyProArgVal;Pro1333_Thr1337delinsValGlyValGlyValCys;Gln1339_Asp1340delinsTyrSerGln;Gly1343_Arg1353delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4141,
          "referenceAllele": "",
          "start": 4141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.3941_3942insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Gln1314HisfsTer34",
        "hgvsWellDefined": "NP_001350457.1:p.[Gln1314_Pro1315delinsHisGluValAlaCys;Ser1317_Ser1321delinsHisGlyProArgVal;Pro1323_Thr1327delinsValGlyValGlyValCys;Gln1329_Asp1330delinsTyrSerGln;Gly1333_Arg1343delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4120,
          "referenceAllele": "",
          "start": 4120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.4010_4011insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Gln1337HisfsTer34",
        "hgvsWellDefined": "NP_066399.2:p.[Gln1337_Pro1338delinsHisGluValAlaCys;Ser1340_Ser1344delinsHisGlyProArgVal;Pro1346_Thr1350delinsValGlyValGlyValCys;Gln1352_Asp1353delinsTyrSerGln;Gly1356_Arg1366delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4028,
          "referenceAllele": "",
          "start": 4028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.3941_3942insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Gln1314HisfsTer34",
        "hgvsWellDefined": "XP_005255588.2:p.[Gln1314_Pro1315delinsHisGluValAlaCys;Ser1317_Ser1321delinsHisGlyProArgVal;Pro1323_Thr1327delinsValGlyValGlyValCys;Gln1329_Asp1330delinsTyrSerGln;Gly1333_Arg1343delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4280,
          "referenceAllele": "",
          "start": 4280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.4193_4194insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Gln1398HisfsTer34",
        "hgvsWellDefined": "XP_011520938.1:p.[Gln1398_Pro1399delinsHisGluValAlaCys;Ser1401_Ser1405delinsHisGlyProArgVal;Pro1407_Thr1411delinsValGlyValGlyValCys;Gln1413_Asp1414delinsTyrSerGln;Gly1417_Arg1427delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4277,
          "referenceAllele": "",
          "start": 4277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.4190_4191insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Gln1397HisfsTer34",
        "hgvsWellDefined": "XP_011520939.1:p.[Gln1397_Pro1398delinsHisGluValAlaCys;Ser1400_Ser1404delinsHisGlyProArgVal;Pro1406_Thr1410delinsValGlyValGlyValCys;Gln1412_Asp1413delinsTyrSerGln;Gly1416_Arg1426delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4373,
          "referenceAllele": "",
          "start": 4373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.4355_4356insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Gln1452HisfsTer34",
        "hgvsWellDefined": "XP_011520940.2:p.[Gln1452_Pro1453delinsHisGluValAlaCys;Ser1455_Ser1459delinsHisGlyProArgVal;Pro1461_Thr1465delinsValGlyValGlyValCys;Gln1467_Asp1468delinsTyrSerGln;Gly1471_Arg1481delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4151,
          "referenceAllele": "",
          "start": 4151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.4064_4065insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Gln1355HisfsTer34",
        "hgvsWellDefined": "XP_011520941.1:p.[Gln1355_Pro1356delinsHisGluValAlaCys;Ser1358_Ser1362delinsHisGlyProArgVal;Pro1364_Thr1368delinsValGlyValGlyValCys;Gln1370_Asp1371delinsTyrSerGln;Gly1374_Arg1384delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4148,
          "referenceAllele": "",
          "start": 4148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.4061_4062insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Gln1354HisfsTer34",
        "hgvsWellDefined": "XP_011520942.1:p.[Gln1354_Pro1355delinsHisGluValAlaCys;Ser1357_Ser1361delinsHisGlyProArgVal;Pro1363_Thr1367delinsValGlyValGlyValCys;Gln1369_Asp1370delinsTyrSerGln;Gly1373_Arg1383delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4223,
          "referenceAllele": "",
          "start": 4223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.4136_4137insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Gln1379HisfsTer34",
        "hgvsWellDefined": "XP_016879104.1:p.[Gln1379_Pro1380delinsHisGluValAlaCys;Ser1382_Ser1386delinsHisGlyProArgVal;Pro1388_Thr1392delinsValGlyValGlyValCys;Gln1394_Asp1395delinsTyrSerGln;Gly1398_Arg1408delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4094,
          "referenceAllele": "",
          "start": 4094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.4007_4008insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Gln1336HisfsTer34",
        "hgvsWellDefined": "XP_016879105.1:p.[Gln1336_Pro1337delinsHisGluValAlaCys;Ser1339_Ser1343delinsHisGlyProArgVal;Pro1345_Thr1349delinsValGlyValGlyValCys;Gln1351_Asp1352delinsTyrSerGln;Gly1355_Arg1365delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4121,
          "referenceAllele": "",
          "start": 4121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.4103_4104insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Gln1368HisfsTer34",
        "hgvsWellDefined": "XP_016879106.1:p.[Gln1368_Pro1369delinsHisGluValAlaCys;Ser1371_Ser1375delinsHisGlyProArgVal;Pro1377_Thr1381delinsValGlyValGlyValCys;Gln1383_Asp1384delinsTyrSerGln;Gly1387_Arg1397delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4367,
          "referenceAllele": "",
          "start": 4367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.2849_2850insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Gln950HisfsTer34",
        "hgvsWellDefined": "XP_016879107.1:p.[Gln950_Pro951delinsHisGluValAlaCys;Ser953_Ser957delinsHisGlyProArgVal;Pro959_Thr963delinsValGlyValGlyValCys;Gln965_Asp966delinsTyrSerGln;Gly969_Arg979delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4025,
          "referenceAllele": "",
          "start": 4025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.3938_3939insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Gln1313HisfsTer34",
        "hgvsWellDefined": "XP_024306181.1:p.[Gln1313_Pro1314delinsHisGluValAlaCys;Ser1316_Ser1320delinsHisGlyProArgVal;Pro1322_Thr1326delinsValGlyValGlyValCys;Gln1328_Asp1329delinsTyrSerGln;Gly1332_Arg1342delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4249,
          "referenceAllele": "",
          "start": 4249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.4139_4140insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Gln1380HisfsTer34",
        "hgvsWellDefined": "NP_000539.2:p.[Gln1380_Pro1381delinsHisGluValAlaCys;Ser1383_Ser1387delinsHisGlyProArgVal;Pro1389_Thr1393delinsValGlyValGlyValCys;Gln1395_Asp1396delinsTyrSerGln;Gly1399_Arg1409delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4139_4140insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4139_4140insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Gln1380HisfsTer34"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Gln1380HisfsTer34"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4117,
          "referenceAllele": "",
          "start": 4117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.4007_4008insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Gln1336HisfsTer34",
        "hgvsWellDefined": "NP_001357333.1:p.[Gln1336_Pro1337delinsHisGluValAlaCys;Ser1339_Ser1343delinsHisGlyProArgVal;Pro1345_Thr1349delinsValGlyValGlyValCys;Gln1351_Asp1352delinsTyrSerGln;Gly1355_Arg1365delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4120,
          "referenceAllele": "",
          "start": 4120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.4010_4011insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Gln1337HisfsTer34",
        "hgvsWellDefined": "NP_001357334.1:p.[Gln1337_Pro1338delinsHisGluValAlaCys;Ser1340_Ser1344delinsHisGlyProArgVal;Pro1346_Thr1350delinsValGlyValGlyValCys;Gln1352_Asp1353delinsTyrSerGln;Gly1356_Arg1366delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4048,
          "referenceAllele": "",
          "start": 4048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.3938_3939insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Gln1313HisfsTer34",
        "hgvsWellDefined": "NP_001070651.1:p.[Gln1313_Pro1314delinsHisGluValAlaCys;Ser1316_Ser1320delinsHisGlyProArgVal;Pro1322_Thr1326delinsValGlyValGlyValCys;Gln1328_Asp1329delinsTyrSerGln;Gly1332_Arg1342delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4180,
          "referenceAllele": "",
          "start": 4180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.4070_4071insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Gln1357HisfsTer34",
        "hgvsWellDefined": "NP_001107854.1:p.[Gln1357_Pro1358delinsHisGluValAlaCys;Ser1360_Ser1364delinsHisGlyProArgVal;Pro1366_Thr1370delinsValGlyValGlyValCys;Gln1372_Asp1373delinsTyrSerGln;Gly1376_Arg1386delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 3940,
          "referenceAllele": "",
          "start": 3940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.3830_3831insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Gln1277HisfsTer34",
        "hgvsWellDefined": "NP_001305756.1:p.[Gln1277_Pro1278delinsHisGluValAlaCys;Ser1280_Ser1284delinsHisGlyProArgVal;Pro1286_Thr1290delinsValGlyValGlyValCys;Gln1292_Asp1293delinsTyrSerGln;Gly1296_Arg1306delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 3884,
          "referenceAllele": "",
          "start": 3884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.3794_3795insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Gln1265HisfsTer34",
        "hgvsWellDefined": "NP_001305758.1:p.[Gln1265_Pro1266delinsHisGluValAlaCys;Ser1268_Ser1272delinsHisGlyProArgVal;Pro1274_Thr1278delinsValGlyValGlyValCys;Gln1280_Asp1281delinsTyrSerGln;Gly1284_Arg1294delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 3743,
          "referenceAllele": "",
          "start": 3743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.3407_3408insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Gln1136HisfsTer34",
        "hgvsWellDefined": "NP_001305760.1:p.[Gln1136_Pro1137delinsHisGluValAlaCys;Ser1139_Ser1143delinsHisGlyProArgVal;Pro1145_Thr1149delinsValGlyValGlyValCys;Gln1151_Asp1152delinsTyrSerGln;Gly1155_Arg1165delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4039,
          "referenceAllele": "",
          "start": 4039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.3971_3972insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Gln1324HisfsTer34",
        "hgvsWellDefined": "NP_001305761.1:p.[Gln1324_Pro1325delinsHisGluValAlaCys;Ser1327_Ser1331delinsHisGlyProArgVal;Pro1333_Thr1337delinsValGlyValGlyValCys;Gln1339_Asp1340delinsTyrSerGln;Gly1343_Arg1353delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4051,
          "referenceAllele": "",
          "start": 4051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.3941_3942insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Gln1314HisfsTer34",
        "hgvsWellDefined": "NP_001350457.1:p.[Gln1314_Pro1315delinsHisGluValAlaCys;Ser1317_Ser1321delinsHisGlyProArgVal;Pro1323_Thr1327delinsValGlyValGlyValCys;Gln1329_Asp1330delinsTyrSerGln;Gly1333_Arg1343delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "coordinates": [
        {
          "allele": "TGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT",
          "end": 4120,
          "referenceAllele": "",
          "start": 4120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.4010_4011insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Gln1337HisfsTer34",
        "hgvsWellDefined": "NP_066399.2:p.[Gln1337_Pro1338delinsHisGluValAlaCys;Ser1340_Ser1344delinsHisGlyProArgVal;Pro1346_Thr1350delinsValGlyValGlyValCys;Gln1352_Asp1353delinsTyrSerGln;Gly1356_Arg1366delinsArgArgLeuArgGlnGluAsnCysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}