{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2695222002",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.4033_4034del (p.Lys1345ValfsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 2084256,
          "referenceAllele": "AA",
          "start": 2084254
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2084255_2084256del",
        "CM000678.2:g.2084255_2084256del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 2134257,
          "referenceAllele": "AA",
          "start": 2134255
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2134256_2134257del",
        "CM000678.1:g.2134256_2134257del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 2074258,
          "referenceAllele": "AA",
          "start": 2074256
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2074257_2074258del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 39951,
          "referenceAllele": "AA",
          "start": 39949
        }
      ],
      "hgvs": [
        "NG_005895.1:g.39950_39951del",
        "LRG_487:g.39950_39951del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3865,
          "referenceAllele": "AA",
          "start": 3863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*2382_*2383del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*2382_*2383del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3997,
          "referenceAllele": "AA",
          "start": 3995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.3880_3881del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Lys1294ValfsTer?",
        "hgvsWellDefined": "ENSP00000495146.2:p.[Lys1294_Arg1304delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1306His;Ile1308_Glu1309delinsHis;Val1311_Glu1315delinsAlaSerArgLeuLeu;Arg1318Trp;Ser1320_Asp1322delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4102,
          "referenceAllele": "AA",
          "start": 4100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.4030_4031del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Lys1344ValfsTer?",
        "hgvsWellDefined": "ENSP00000495459.2:p.[Lys1344_Arg1354delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1356His;Ile1358_Glu1359delinsHis;Val1361_Glu1365delinsAlaSerArgLeuLeu;Arg1368Trp;Ser1370_Asp1372delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5069,
          "referenceAllele": "AA",
          "start": 5067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*4413_*4414del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*4413_*4414del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7121,
          "referenceAllele": "AA",
          "start": 7119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*6782_*6783del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*6782_*6783del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4144,
          "referenceAllele": "AA",
          "start": 4142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.4033_4034del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Lys1345ValfsTer?",
        "hgvsWellDefined": "ENSP00000219476.3:p.[Lys1345_Arg1355delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1357His;Ile1359_Glu1360delinsHis;Val1362_Glu1366delinsAlaSerArgLeuLeu;Arg1369Trp;Ser1371_Asp1373delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4033_4034del"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4033_4034del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Lys1345ValfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Lys1345ValfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4040,
          "referenceAllele": "AA",
          "start": 4038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.3964_3965del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Lys1322ValfsTer?",
        "hgvsWellDefined": "ENSP00000344383.4:p.[Lys1322_Arg1332delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1334His;Ile1336_Glu1337delinsHis;Val1339_Glu1343delinsAlaSerArgLeuLeu;Arg1346Trp;Ser1348_Asp1350delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3939,
          "referenceAllele": "AA",
          "start": 3937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.3832_3833del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Lys1278ValfsTer?",
        "hgvsWellDefined": "ENSP00000384468.2:p.[Lys1278_Arg1288delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1290His;Ile1292_Glu1293delinsHis;Val1295_Glu1299delinsAlaSerArgLeuLeu;Arg1302Trp;Ser1304_Asp1306delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3934,
          "referenceAllele": "AA",
          "start": 3932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.3865_3866del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Lys1289ValfsTer?",
        "hgvsWellDefined": "ENSP00000454487.1:p.[Lys1289_Arg1299delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1301His;Ile1303_Glu1304delinsHis;Val1306_Glu1310delinsAlaSerArgLeuLeu;Arg1313Trp;Ser1315_Asp1317delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 270,
          "referenceAllele": "AA",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.2:c.269_270del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760583"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1916,
          "referenceAllele": "AA",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.2:n.1915_1916del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760618"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2688,
          "referenceAllele": "AA",
          "start": 2686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.2687_2688del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3957,
          "referenceAllele": "AA",
          "start": 3955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.3904_3905del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Lys1302ValfsTer?",
        "hgvsWellDefined": "ENSP00000495099.1:p.[Lys1302_Arg1312delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1314His;Ile1316_Glu1317delinsHis;Val1319_Glu1323delinsAlaSerArgLeuLeu;Arg1326Trp;Ser1328_Asp1330delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 216,
          "referenceAllele": "AA",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642728.1:n.215_216del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766898"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3890,
          "referenceAllele": "AA",
          "start": 3888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.3835_3836del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Lys1279ValfsTer?",
        "hgvsWellDefined": "ENSP00000493846.1:p.[Lys1279_Arg1289delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1291His;Ile1293_Glu1294delinsHis;Val1296_Glu1300delinsAlaSerArgLeuLeu;Arg1303Trp;Ser1305_Asp1307delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4011,
          "referenceAllele": "AA",
          "start": 4009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.3901_3902del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Lys1301ValfsTer?",
        "hgvsWellDefined": "ENSP00000494514.1:p.[Lys1301_Arg1311delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1313His;Ile1315_Glu1316delinsHis;Val1318_Glu1322delinsAlaSerArgLeuLeu;Arg1325Trp;Ser1327_Asp1329delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3951,
          "referenceAllele": "AA",
          "start": 3949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.3832_3833del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Lys1278ValfsTer?",
        "hgvsWellDefined": "ENSP00000494747.1:p.[Lys1278_Arg1288delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1290His;Ile1292_Glu1293delinsHis;Val1295_Glu1299delinsAlaSerArgLeuLeu;Arg1302Trp;Ser1304_Asp1306delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 48,
          "referenceAllele": "AA",
          "start": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643177.1:n.47_48del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767136"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1682,
          "referenceAllele": "AA",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643426.1:n.1681_1682del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767277"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 475,
          "referenceAllele": "AA",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643533.1:n.474_475del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767332"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4083,
          "referenceAllele": "AA",
          "start": 4081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.3964_3965del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Lys1322ValfsTer?",
        "hgvsWellDefined": "ENSP00000495927.1:p.[Lys1322_Arg1332delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1334His;Ile1336_Glu1337delinsHis;Val1339_Glu1343delinsAlaSerArgLeuLeu;Arg1346Trp;Ser1348_Asp1350delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3959,
          "referenceAllele": "AA",
          "start": 3957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.3904_3905del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Lys1302ValfsTer?",
        "hgvsWellDefined": "ENSP00000496262.1:p.[Lys1302_Arg1312delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1314His;Ile1316_Glu1317delinsHis;Val1319_Glu1323delinsAlaSerArgLeuLeu;Arg1326Trp;Ser1328_Asp1330delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3895,
          "referenceAllele": "AA",
          "start": 3893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.3832_3833del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Lys1278ValfsTer?",
        "hgvsWellDefined": "ENSP00000496611.1:p.[Lys1278_Arg1288delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1290His;Ile1292_Glu1293delinsHis;Val1295_Glu1299delinsAlaSerArgLeuLeu;Arg1302Trp;Ser1304_Asp1306delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3936,
          "referenceAllele": "AA",
          "start": 3934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.3835_3836del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Lys1279ValfsTer?",
        "hgvsWellDefined": "ENSP00000496317.1:p.[Lys1279_Arg1289delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1291His;Ile1293_Glu1294delinsHis;Val1296_Glu1300delinsAlaSerArgLeuLeu;Arg1303Trp;Ser1305_Asp1307delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3955,
          "referenceAllele": "AA",
          "start": 3953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.3954_3955del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2118,
          "referenceAllele": "AA",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.2117_2118del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 277,
          "referenceAllele": "AA",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645186.1:c.276_277del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768213"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4120,
          "referenceAllele": "AA",
          "start": 4118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.4033_4034del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Lys1345ValfsTer?",
        "hgvsWellDefined": "ENSP00000495921.1:p.[Lys1345_Arg1355delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1357His;Ile1359_Glu1360delinsHis;Val1362_Glu1366delinsAlaSerArgLeuLeu;Arg1369Trp;Ser1371_Asp1373delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2849,
          "referenceAllele": "AA",
          "start": 2847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.2848_2849del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1286,
          "referenceAllele": "AA",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646674.1:n.1285_1286del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1257,
          "referenceAllele": "AA",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647042.1:n.1256_1257del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769203"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1147,
          "referenceAllele": "AA",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647180.1:n.1146_1147del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769277"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4664,
          "referenceAllele": "AA",
          "start": 4662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.4033_4034del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Lys1345ValfsTer?",
        "hgvsWellDefined": "ENSP00000219476.3:p.[Lys1345_Arg1355delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1357His;Ile1359_Glu1360delinsHis;Val1362_Glu1366delinsAlaSerArgLeuLeu;Arg1369Trp;Ser1371_Asp1373delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4040,
          "referenceAllele": "AA",
          "start": 4038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.3964_3965del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Lys1322ValfsTer?",
        "hgvsWellDefined": "ENSP00000344383.4:p.[Lys1322_Arg1332delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1334His;Ile1336_Glu1337delinsHis;Val1339_Glu1343delinsAlaSerArgLeuLeu;Arg1346Trp;Ser1348_Asp1350delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3784,
          "referenceAllele": "AA",
          "start": 3782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.3688_3689del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Lys1230ValfsTer?",
        "hgvsWellDefined": "ENSP00000371978.6:p.[Lys1230_Arg1240delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1242His;Ile1244_Glu1245delinsHis;Val1247_Glu1251delinsAlaSerArgLeuLeu;Arg1254Trp;Ser1256_Asp1258delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3939,
          "referenceAllele": "AA",
          "start": 3937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.3832_3833del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Lys1278ValfsTer?",
        "hgvsWellDefined": "ENSP00000384468.2:p.[Lys1278_Arg1288delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1290His;Ile1292_Glu1293delinsHis;Val1295_Glu1299delinsAlaSerArgLeuLeu;Arg1302Trp;Ser1304_Asp1306delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3590,
          "referenceAllele": "AA",
          "start": 3588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*3200_*3201del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*3200_*3201del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3806,
          "referenceAllele": "AA",
          "start": 3804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.3724_3725del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Lys1242ValfsTer?",
        "hgvsWellDefined": "ENSP00000399232.2:p.[Lys1242_Arg1252delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1254His;Ile1256_Glu1257delinsHis;Val1259_Glu1263delinsAlaSerArgLeuLeu;Arg1266Trp;Ser1268_Asp1270delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1792,
          "referenceAllele": "AA",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000497886.5:n.1791_1792del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334013"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3934,
          "referenceAllele": "AA",
          "start": 3932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.3865_3866del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Lys1289ValfsTer?",
        "hgvsWellDefined": "ENSP00000454487.1:p.[Lys1289_Arg1299delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1301His;Ile1303_Glu1304delinsHis;Val1306_Glu1310delinsAlaSerArgLeuLeu;Arg1313Trp;Ser1315_Asp1317delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 216,
          "referenceAllele": "AA",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.1:c.215_216del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246736"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1149,
          "referenceAllele": "AA",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.1:n.1148_1149del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381794"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4140,
          "referenceAllele": "AA",
          "start": 4138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.4033_4034del",
        "LRG_487t1:c.4033_4034del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Lys1345ValfsTer?",
        "hgvsWellDefined": "NP_000539.2:p.[Lys1345_Arg1355delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1357His;Ile1359_Glu1360delinsHis;Val1362_Glu1366delinsAlaSerArgLeuLeu;Arg1369Trp;Ser1371_Asp1373delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3939,
          "referenceAllele": "AA",
          "start": 3937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.3832_3833del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Lys1278ValfsTer?",
        "hgvsWellDefined": "NP_001070651.1:p.[Lys1278_Arg1288delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1290His;Ile1292_Glu1293delinsHis;Val1295_Glu1299delinsAlaSerArgLeuLeu;Arg1302Trp;Ser1304_Asp1306delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4071,
          "referenceAllele": "AA",
          "start": 4069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.3964_3965del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Lys1322ValfsTer?",
        "hgvsWellDefined": "NP_001107854.1:p.[Lys1322_Arg1332delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1334His;Ile1336_Glu1337delinsHis;Val1339_Glu1343delinsAlaSerArgLeuLeu;Arg1346Trp;Ser1348_Asp1350delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3992,
          "referenceAllele": "AA",
          "start": 3990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.3904_3905del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Lys1302ValfsTer?",
        "hgvsWellDefined": "XP_005255586.2:p.[Lys1302_Arg1312delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1314His;Ile1316_Glu1317delinsHis;Val1319_Glu1323delinsAlaSerArgLeuLeu;Arg1326Trp;Ser1328_Asp1330delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3923,
          "referenceAllele": "AA",
          "start": 3921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.3835_3836del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Lys1279ValfsTer?",
        "hgvsWellDefined": "XP_005255588.2:p.[Lys1279_Arg1289delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1291His;Ile1293_Glu1294delinsHis;Val1296_Glu1300delinsAlaSerArgLeuLeu;Arg1303Trp;Ser1305_Asp1307delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4175,
          "referenceAllele": "AA",
          "start": 4173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.4087_4088del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Lys1363ValfsTer?",
        "hgvsWellDefined": "XP_011520938.1:p.[Lys1363_Arg1373delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1375His;Ile1377_Glu1378delinsHis;Val1380_Glu1384delinsAlaSerArgLeuLeu;Arg1387Trp;Ser1389_Asp1391delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4172,
          "referenceAllele": "AA",
          "start": 4170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.4084_4085del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Lys1362ValfsTer?",
        "hgvsWellDefined": "XP_011520939.1:p.[Lys1362_Arg1372delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1374His;Ile1376_Glu1377delinsHis;Val1379_Glu1383delinsAlaSerArgLeuLeu;Arg1386Trp;Ser1388_Asp1390delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4136,
          "referenceAllele": "AA",
          "start": 4134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.3976_3977del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Lys1326ValfsTer?",
        "hgvsWellDefined": "XP_011520940.1:p.[Lys1326_Arg1336delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1338His;Ile1340_Glu1341delinsHis;Val1343_Glu1347delinsAlaSerArgLeuLeu;Arg1350Trp;Ser1352_Asp1354delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4046,
          "referenceAllele": "AA",
          "start": 4044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.3958_3959del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Lys1320ValfsTer?",
        "hgvsWellDefined": "XP_011520941.1:p.[Lys1320_Arg1330delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1332His;Ile1334_Glu1335delinsHis;Val1337_Glu1341delinsAlaSerArgLeuLeu;Arg1344Trp;Ser1346_Asp1348delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4043,
          "referenceAllele": "AA",
          "start": 4041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.3955_3956del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Lys1319ValfsTer?",
        "hgvsWellDefined": "XP_011520942.1:p.[Lys1319_Arg1329delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1331His;Ile1333_Glu1334delinsHis;Val1336_Glu1340delinsAlaSerArgLeuLeu;Arg1343Trp;Ser1345_Asp1347delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3884,
          "referenceAllele": "AA",
          "start": 3882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.3724_3725del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Lys1242ValfsTer?",
        "hgvsWellDefined": "XP_011520943.1:p.[Lys1242_Arg1252delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1254His;Ile1256_Glu1257delinsHis;Val1259_Glu1263delinsAlaSerArgLeuLeu;Arg1266Trp;Ser1268_Asp1270delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4234,
          "referenceAllele": "AA",
          "start": 4232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.4033_4034del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Lys1345ValfsTer?",
        "hgvsWellDefined": "NP_000539.2:p.[Lys1345_Arg1355delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1357His;Ile1359_Glu1360delinsHis;Val1362_Glu1366delinsAlaSerArgLeuLeu;Arg1369Trp;Ser1371_Asp1373delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4033,
          "referenceAllele": "AA",
          "start": 4031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.3832_3833del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Lys1278ValfsTer?",
        "hgvsWellDefined": "NP_001070651.1:p.[Lys1278_Arg1288delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1290His;Ile1292_Glu1293delinsHis;Val1295_Glu1299delinsAlaSerArgLeuLeu;Arg1302Trp;Ser1304_Asp1306delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4165,
          "referenceAllele": "AA",
          "start": 4163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.3964_3965del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Lys1322ValfsTer?",
        "hgvsWellDefined": "NP_001107854.1:p.[Lys1322_Arg1332delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1334His;Ile1336_Glu1337delinsHis;Val1339_Glu1343delinsAlaSerArgLeuLeu;Arg1346Trp;Ser1348_Asp1350delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3925,
          "referenceAllele": "AA",
          "start": 3923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.3724_3725del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Lys1242ValfsTer?",
        "hgvsWellDefined": "NP_001305756.1:p.[Lys1242_Arg1252delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1254His;Ile1256_Glu1257delinsHis;Val1259_Glu1263delinsAlaSerArgLeuLeu;Arg1266Trp;Ser1268_Asp1270delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3869,
          "referenceAllele": "AA",
          "start": 3867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.3688_3689del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Lys1230ValfsTer?",
        "hgvsWellDefined": "NP_001305758.1:p.[Lys1230_Arg1240delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1242His;Ile1244_Glu1245delinsHis;Val1247_Glu1251delinsAlaSerArgLeuLeu;Arg1254Trp;Ser1256_Asp1258delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3728,
          "referenceAllele": "AA",
          "start": 3726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.3301_3302del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Lys1101ValfsTer?",
        "hgvsWellDefined": "NP_001305760.1:p.[Lys1101_Arg1111delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1113His;Ile1115_Glu1116delinsHis;Val1118_Glu1122delinsAlaSerArgLeuLeu;Arg1125Trp;Ser1127_Asp1129delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3934,
          "referenceAllele": "AA",
          "start": 3932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.3865_3866del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Lys1289ValfsTer?",
        "hgvsWellDefined": "NP_001305761.1:p.[Lys1289_Arg1299delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1301His;Ile1303_Glu1304delinsHis;Val1306_Glu1310delinsAlaSerArgLeuLeu;Arg1313Trp;Ser1315_Asp1317delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4036,
          "referenceAllele": "AA",
          "start": 4034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.3835_3836del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Lys1279ValfsTer?",
        "hgvsWellDefined": "NP_001350457.1:p.[Lys1279_Arg1289delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1291His;Ile1293_Glu1294delinsHis;Val1296_Glu1300delinsAlaSerArgLeuLeu;Arg1303Trp;Ser1305_Asp1307delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4015,
          "referenceAllele": "AA",
          "start": 4013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.3904_3905del"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Lys1302ValfsTer?",
        "hgvsWellDefined": "NP_066399.2:p.[Lys1302_Arg1312delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1314His;Ile1316_Glu1317delinsHis;Val1319_Glu1323delinsAlaSerArgLeuLeu;Arg1326Trp;Ser1328_Asp1330delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3923,
          "referenceAllele": "AA",
          "start": 3921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.3835_3836del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Lys1279ValfsTer?",
        "hgvsWellDefined": "XP_005255588.2:p.[Lys1279_Arg1289delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1291His;Ile1293_Glu1294delinsHis;Val1296_Glu1300delinsAlaSerArgLeuLeu;Arg1303Trp;Ser1305_Asp1307delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4175,
          "referenceAllele": "AA",
          "start": 4173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.4087_4088del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Lys1363ValfsTer?",
        "hgvsWellDefined": "XP_011520938.1:p.[Lys1363_Arg1373delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1375His;Ile1377_Glu1378delinsHis;Val1380_Glu1384delinsAlaSerArgLeuLeu;Arg1387Trp;Ser1389_Asp1391delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4172,
          "referenceAllele": "AA",
          "start": 4170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.4084_4085del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Lys1362ValfsTer?",
        "hgvsWellDefined": "XP_011520939.1:p.[Lys1362_Arg1372delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1374His;Ile1376_Glu1377delinsHis;Val1379_Glu1383delinsAlaSerArgLeuLeu;Arg1386Trp;Ser1388_Asp1390delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4268,
          "referenceAllele": "AA",
          "start": 4266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.4249_4250del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Lys1417ValfsTer?",
        "hgvsWellDefined": "XP_011520940.2:p.[Lys1417_Arg1427delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1429His;Ile1431_Glu1432delinsHis;Val1434_Glu1438delinsAlaSerArgLeuLeu;Arg1441Trp;Ser1443_Asp1445delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4046,
          "referenceAllele": "AA",
          "start": 4044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.3958_3959del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Lys1320ValfsTer?",
        "hgvsWellDefined": "XP_011520941.1:p.[Lys1320_Arg1330delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1332His;Ile1334_Glu1335delinsHis;Val1337_Glu1341delinsAlaSerArgLeuLeu;Arg1344Trp;Ser1346_Asp1348delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4043,
          "referenceAllele": "AA",
          "start": 4041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.3955_3956del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Lys1319ValfsTer?",
        "hgvsWellDefined": "XP_011520942.1:p.[Lys1319_Arg1329delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1331His;Ile1333_Glu1334delinsHis;Val1336_Glu1340delinsAlaSerArgLeuLeu;Arg1343Trp;Ser1345_Asp1347delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4118,
          "referenceAllele": "AA",
          "start": 4116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.4030_4031del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Lys1344ValfsTer?",
        "hgvsWellDefined": "XP_016879104.1:p.[Lys1344_Arg1354delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1356His;Ile1358_Glu1359delinsHis;Val1361_Glu1365delinsAlaSerArgLeuLeu;Arg1368Trp;Ser1370_Asp1372delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3989,
          "referenceAllele": "AA",
          "start": 3987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.3901_3902del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Lys1301ValfsTer?",
        "hgvsWellDefined": "XP_016879105.1:p.[Lys1301_Arg1311delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1313His;Ile1315_Glu1316delinsHis;Val1318_Glu1322delinsAlaSerArgLeuLeu;Arg1325Trp;Ser1327_Asp1329delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4016,
          "referenceAllele": "AA",
          "start": 4014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.3997_3998del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Lys1333ValfsTer?",
        "hgvsWellDefined": "XP_016879106.1:p.[Lys1333_Arg1343delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1345His;Ile1347_Glu1348delinsHis;Val1350_Glu1354delinsAlaSerArgLeuLeu;Arg1357Trp;Ser1359_Asp1361delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4262,
          "referenceAllele": "AA",
          "start": 4260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.2743_2744del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Lys915ValfsTer?",
        "hgvsWellDefined": "XP_016879107.1:p.[Lys915_Arg925delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile927His;Ile929_Glu930delinsHis;Val932_Glu936delinsAlaSerArgLeuLeu;Arg939Trp;Ser941_Asp943delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3920,
          "referenceAllele": "AA",
          "start": 3918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.3832_3833del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Lys1278ValfsTer?",
        "hgvsWellDefined": "XP_024306181.1:p.[Lys1278_Arg1288delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1290His;Ile1292_Glu1293delinsHis;Val1295_Glu1299delinsAlaSerArgLeuLeu;Arg1302Trp;Ser1304_Asp1306delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4144,
          "referenceAllele": "AA",
          "start": 4142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.4033_4034del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Lys1345ValfsTer?",
        "hgvsWellDefined": "NP_000539.2:p.[Lys1345_Arg1355delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1357His;Ile1359_Glu1360delinsHis;Val1362_Glu1366delinsAlaSerArgLeuLeu;Arg1369Trp;Ser1371_Asp1373delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4033_4034del"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4033_4034del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Lys1345ValfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Lys1345ValfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4012,
          "referenceAllele": "AA",
          "start": 4010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.3901_3902del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Lys1301ValfsTer?",
        "hgvsWellDefined": "NP_001357333.1:p.[Lys1301_Arg1311delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1313His;Ile1315_Glu1316delinsHis;Val1318_Glu1322delinsAlaSerArgLeuLeu;Arg1325Trp;Ser1327_Asp1329delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4015,
          "referenceAllele": "AA",
          "start": 4013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.3904_3905del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Lys1302ValfsTer?",
        "hgvsWellDefined": "NP_001357334.1:p.[Lys1302_Arg1312delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1314His;Ile1316_Glu1317delinsHis;Val1319_Glu1323delinsAlaSerArgLeuLeu;Arg1326Trp;Ser1328_Asp1330delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3943,
          "referenceAllele": "AA",
          "start": 3941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.3832_3833del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Lys1278ValfsTer?",
        "hgvsWellDefined": "NP_001070651.1:p.[Lys1278_Arg1288delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1290His;Ile1292_Glu1293delinsHis;Val1295_Glu1299delinsAlaSerArgLeuLeu;Arg1302Trp;Ser1304_Asp1306delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4075,
          "referenceAllele": "AA",
          "start": 4073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.3964_3965del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Lys1322ValfsTer?",
        "hgvsWellDefined": "NP_001107854.1:p.[Lys1322_Arg1332delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1334His;Ile1336_Glu1337delinsHis;Val1339_Glu1343delinsAlaSerArgLeuLeu;Arg1346Trp;Ser1348_Asp1350delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3835,
          "referenceAllele": "AA",
          "start": 3833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.3724_3725del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Lys1242ValfsTer?",
        "hgvsWellDefined": "NP_001305756.1:p.[Lys1242_Arg1252delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1254His;Ile1256_Glu1257delinsHis;Val1259_Glu1263delinsAlaSerArgLeuLeu;Arg1266Trp;Ser1268_Asp1270delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3779,
          "referenceAllele": "AA",
          "start": 3777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.3688_3689del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Lys1230ValfsTer?",
        "hgvsWellDefined": "NP_001305758.1:p.[Lys1230_Arg1240delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1242His;Ile1244_Glu1245delinsHis;Val1247_Glu1251delinsAlaSerArgLeuLeu;Arg1254Trp;Ser1256_Asp1258delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3638,
          "referenceAllele": "AA",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.3301_3302del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Lys1101ValfsTer?",
        "hgvsWellDefined": "NP_001305760.1:p.[Lys1101_Arg1111delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1113His;Ile1115_Glu1116delinsHis;Val1118_Glu1122delinsAlaSerArgLeuLeu;Arg1125Trp;Ser1127_Asp1129delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3934,
          "referenceAllele": "AA",
          "start": 3932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.3865_3866del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Lys1289ValfsTer?",
        "hgvsWellDefined": "NP_001305761.1:p.[Lys1289_Arg1299delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1301His;Ile1303_Glu1304delinsHis;Val1306_Glu1310delinsAlaSerArgLeuLeu;Arg1313Trp;Ser1315_Asp1317delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3946,
          "referenceAllele": "AA",
          "start": 3944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.3835_3836del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Lys1279ValfsTer?",
        "hgvsWellDefined": "NP_001350457.1:p.[Lys1279_Arg1289delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1291His;Ile1293_Glu1294delinsHis;Val1296_Glu1300delinsAlaSerArgLeuLeu;Arg1303Trp;Ser1305_Asp1307delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4015,
          "referenceAllele": "AA",
          "start": 4013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.3904_3905del"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Lys1302ValfsTer?",
        "hgvsWellDefined": "NP_066399.2:p.[Lys1302_Arg1312delinsValAlaProArgGlyGlyAlaGlyTrpGln;Ile1314His;Ile1316_Glu1317delinsHis;Val1319_Glu1323delinsAlaSerArgLeuLeu;Arg1326Trp;Ser1328_Asp1330delinsAlaLeuCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}