{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3038999796",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.4026_4035del (p.Gln1342HisfsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 2084257,
          "referenceAllele": "GGAGGAGAAG",
          "start": 2084247
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2084248_2084257del",
        "CM000678.2:g.2084248_2084257del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 2134258,
          "referenceAllele": "GGAGGAGAAG",
          "start": 2134248
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2134249_2134258del",
        "CM000678.1:g.2134249_2134258del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 2074259,
          "referenceAllele": "GGAGGAGAAG",
          "start": 2074249
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2074250_2074259del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 39952,
          "referenceAllele": "GGAGGAGAAG",
          "start": 39942
        }
      ],
      "hgvs": [
        "NG_005895.1:g.39943_39952del",
        "LRG_487:g.39943_39952del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3866,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*2375_*2384del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*2375_*2384del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3998,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.3873_3882del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Gln1291HisfsTer?",
        "hgvsWellDefined": "ENSP00000495146.2:p.[Gln1291_Lys1294delinsHisArg;Leu1296_Glu1300delinsThrArgArgSerTrp;Val1302Ala;Arg1304_Ile1308delinsAlaSerProSerSer;Arg1310_Gly1316delinsSerSerProArgArgValAla;Arg1318del;Ser1320_Leu1323delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4103,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.4023_4032del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Gln1341HisfsTer?",
        "hgvsWellDefined": "ENSP00000495459.2:p.[Gln1341_Lys1344delinsHisArg;Leu1346_Glu1350delinsThrArgArgSerTrp;Val1352Ala;Arg1354_Ile1358delinsAlaSerProSerSer;Arg1360_Gly1366delinsSerSerProArgArgValAla;Arg1368del;Ser1370_Leu1373delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5070,
          "referenceAllele": "GGAGGAGAAG",
          "start": 5060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*4406_*4415del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*4406_*4415del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7122,
          "referenceAllele": "GGAGGAGAAG",
          "start": 7112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*6775_*6784del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*6775_*6784del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4145,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.4026_4035del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Gln1342HisfsTer?",
        "hgvsWellDefined": "ENSP00000219476.3:p.[Gln1342_Lys1345delinsHisArg;Leu1347_Glu1351delinsThrArgArgSerTrp;Val1353Ala;Arg1355_Ile1359delinsAlaSerProSerSer;Arg1361_Gly1367delinsSerSerProArgArgValAla;Arg1369del;Ser1371_Leu1374delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4026_4035del"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4026_4035del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Gln1342HisfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Gln1342HisfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4041,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.3957_3966del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Gln1319HisfsTer?",
        "hgvsWellDefined": "ENSP00000344383.4:p.[Gln1319_Lys1322delinsHisArg;Leu1324_Glu1328delinsThrArgArgSerTrp;Val1330Ala;Arg1332_Ile1336delinsAlaSerProSerSer;Arg1338_Gly1344delinsSerSerProArgArgValAla;Arg1346del;Ser1348_Leu1351delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3940,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.3825_3834del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Gln1275HisfsTer?",
        "hgvsWellDefined": "ENSP00000384468.2:p.[Gln1275_Lys1278delinsHisArg;Leu1280_Glu1284delinsThrArgArgSerTrp;Val1286Ala;Arg1288_Ile1292delinsAlaSerProSerSer;Arg1294_Gly1300delinsSerSerProArgArgValAla;Arg1302del;Ser1304_Leu1307delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3935,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.3858_3867del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Gln1286HisfsTer?",
        "hgvsWellDefined": "ENSP00000454487.1:p.[Gln1286_Lys1289delinsHisArg;Leu1291_Glu1295delinsThrArgArgSerTrp;Val1297Ala;Arg1299_Ile1303delinsAlaSerProSerSer;Arg1305_Gly1311delinsSerSerProArgArgValAla;Arg1313del;Ser1315_Leu1318delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 271,
          "referenceAllele": "GGAGGAGAAG",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.2:c.262_271del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760583"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1917,
          "referenceAllele": "GGAGGAGAAG",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.2:n.1908_1917del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760618"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2689,
          "referenceAllele": "GGAGGAGAAG",
          "start": 2679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.2680_2689del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3958,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.3897_3906del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Gln1299HisfsTer?",
        "hgvsWellDefined": "ENSP00000495099.1:p.[Gln1299_Lys1302delinsHisArg;Leu1304_Glu1308delinsThrArgArgSerTrp;Val1310Ala;Arg1312_Ile1316delinsAlaSerProSerSer;Arg1318_Gly1324delinsSerSerProArgArgValAla;Arg1326del;Ser1328_Leu1331delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 217,
          "referenceAllele": "GGAGGAGAAG",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642728.1:n.208_217del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766898"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3891,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.3828_3837del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Gln1276HisfsTer?",
        "hgvsWellDefined": "ENSP00000493846.1:p.[Gln1276_Lys1279delinsHisArg;Leu1281_Glu1285delinsThrArgArgSerTrp;Val1287Ala;Arg1289_Ile1293delinsAlaSerProSerSer;Arg1295_Gly1301delinsSerSerProArgArgValAla;Arg1303del;Ser1305_Leu1308delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4012,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.3894_3903del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Gln1298HisfsTer?",
        "hgvsWellDefined": "ENSP00000494514.1:p.[Gln1298_Lys1301delinsHisArg;Leu1303_Glu1307delinsThrArgArgSerTrp;Val1309Ala;Arg1311_Ile1315delinsAlaSerProSerSer;Arg1317_Gly1323delinsSerSerProArgArgValAla;Arg1325del;Ser1327_Leu1330delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3952,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.3825_3834del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Gln1275HisfsTer?",
        "hgvsWellDefined": "ENSP00000494747.1:p.[Gln1275_Lys1278delinsHisArg;Leu1280_Glu1284delinsThrArgArgSerTrp;Val1286Ala;Arg1288_Ile1292delinsAlaSerProSerSer;Arg1294_Gly1300delinsSerSerProArgArgValAla;Arg1302del;Ser1304_Leu1307delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 49,
          "referenceAllele": "GGAGGAGAAG",
          "start": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643177.1:n.40_49del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767136"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1683,
          "referenceAllele": "GGAGGAGAAG",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643426.1:n.1674_1683del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767277"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 476,
          "referenceAllele": "GGAGGAGAAG",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643533.1:n.467_476del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767332"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4084,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.3957_3966del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Gln1319HisfsTer?",
        "hgvsWellDefined": "ENSP00000495927.1:p.[Gln1319_Lys1322delinsHisArg;Leu1324_Glu1328delinsThrArgArgSerTrp;Val1330Ala;Arg1332_Ile1336delinsAlaSerProSerSer;Arg1338_Gly1344delinsSerSerProArgArgValAla;Arg1346del;Ser1348_Leu1351delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3960,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.3897_3906del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Gln1299HisfsTer?",
        "hgvsWellDefined": "ENSP00000496262.1:p.[Gln1299_Lys1302delinsHisArg;Leu1304_Glu1308delinsThrArgArgSerTrp;Val1310Ala;Arg1312_Ile1316delinsAlaSerProSerSer;Arg1318_Gly1324delinsSerSerProArgArgValAla;Arg1326del;Ser1328_Leu1331delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3896,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.3825_3834del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Gln1275HisfsTer?",
        "hgvsWellDefined": "ENSP00000496611.1:p.[Gln1275_Lys1278delinsHisArg;Leu1280_Glu1284delinsThrArgArgSerTrp;Val1286Ala;Arg1288_Ile1292delinsAlaSerProSerSer;Arg1294_Gly1300delinsSerSerProArgArgValAla;Arg1302del;Ser1304_Leu1307delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3937,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.3828_3837del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Gln1276HisfsTer?",
        "hgvsWellDefined": "ENSP00000496317.1:p.[Gln1276_Lys1279delinsHisArg;Leu1281_Glu1285delinsThrArgArgSerTrp;Val1287Ala;Arg1289_Ile1293delinsAlaSerProSerSer;Arg1295_Gly1301delinsSerSerProArgArgValAla;Arg1303del;Ser1305_Leu1308delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3956,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.3947_3956del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2119,
          "referenceAllele": "GGAGGAGAAG",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.2110_2119del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 278,
          "referenceAllele": "GGAGGAGAAG",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645186.1:c.269_278del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768213"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4121,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.4026_4035del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Gln1342HisfsTer?",
        "hgvsWellDefined": "ENSP00000495921.1:p.[Gln1342_Lys1345delinsHisArg;Leu1347_Glu1351delinsThrArgArgSerTrp;Val1353Ala;Arg1355_Ile1359delinsAlaSerProSerSer;Arg1361_Gly1367delinsSerSerProArgArgValAla;Arg1369del;Ser1371_Leu1374delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2850,
          "referenceAllele": "GGAGGAGAAG",
          "start": 2840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.2841_2850del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1287,
          "referenceAllele": "GGAGGAGAAG",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646674.1:n.1278_1287del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1258,
          "referenceAllele": "GGAGGAGAAG",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647042.1:n.1249_1258del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769203"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1148,
          "referenceAllele": "GGAGGAGAAG",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647180.1:n.1139_1148del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769277"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4665,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.4026_4035del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Gln1342HisfsTer?",
        "hgvsWellDefined": "ENSP00000219476.3:p.[Gln1342_Lys1345delinsHisArg;Leu1347_Glu1351delinsThrArgArgSerTrp;Val1353Ala;Arg1355_Ile1359delinsAlaSerProSerSer;Arg1361_Gly1367delinsSerSerProArgArgValAla;Arg1369del;Ser1371_Leu1374delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4041,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.3957_3966del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Gln1319HisfsTer?",
        "hgvsWellDefined": "ENSP00000344383.4:p.[Gln1319_Lys1322delinsHisArg;Leu1324_Glu1328delinsThrArgArgSerTrp;Val1330Ala;Arg1332_Ile1336delinsAlaSerProSerSer;Arg1338_Gly1344delinsSerSerProArgArgValAla;Arg1346del;Ser1348_Leu1351delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3785,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.3681_3690del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Gln1227HisfsTer?",
        "hgvsWellDefined": "ENSP00000371978.6:p.[Gln1227_Lys1230delinsHisArg;Leu1232_Glu1236delinsThrArgArgSerTrp;Val1238Ala;Arg1240_Ile1244delinsAlaSerProSerSer;Arg1246_Gly1252delinsSerSerProArgArgValAla;Arg1254del;Ser1256_Leu1259delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3940,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.3825_3834del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Gln1275HisfsTer?",
        "hgvsWellDefined": "ENSP00000384468.2:p.[Gln1275_Lys1278delinsHisArg;Leu1280_Glu1284delinsThrArgArgSerTrp;Val1286Ala;Arg1288_Ile1292delinsAlaSerProSerSer;Arg1294_Gly1300delinsSerSerProArgArgValAla;Arg1302del;Ser1304_Leu1307delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3591,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*3193_*3202del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*3193_*3202del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3807,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.3717_3726del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Gln1239HisfsTer?",
        "hgvsWellDefined": "ENSP00000399232.2:p.[Gln1239_Lys1242delinsHisArg;Leu1244_Glu1248delinsThrArgArgSerTrp;Val1250Ala;Arg1252_Ile1256delinsAlaSerProSerSer;Arg1258_Gly1264delinsSerSerProArgArgValAla;Arg1266del;Ser1268_Leu1271delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1793,
          "referenceAllele": "GGAGGAGAAG",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000497886.5:n.1784_1793del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334013"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3935,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.3858_3867del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Gln1286HisfsTer?",
        "hgvsWellDefined": "ENSP00000454487.1:p.[Gln1286_Lys1289delinsHisArg;Leu1291_Glu1295delinsThrArgArgSerTrp;Val1297Ala;Arg1299_Ile1303delinsAlaSerProSerSer;Arg1305_Gly1311delinsSerSerProArgArgValAla;Arg1313del;Ser1315_Leu1318delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 217,
          "referenceAllele": "GGAGGAGAAG",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.1:c.208_217del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246736"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1150,
          "referenceAllele": "GGAGGAGAAG",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.1:n.1141_1150del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381794"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4141,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.4026_4035del",
        "LRG_487t1:c.4026_4035del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Gln1342HisfsTer?",
        "hgvsWellDefined": "NP_000539.2:p.[Gln1342_Lys1345delinsHisArg;Leu1347_Glu1351delinsThrArgArgSerTrp;Val1353Ala;Arg1355_Ile1359delinsAlaSerProSerSer;Arg1361_Gly1367delinsSerSerProArgArgValAla;Arg1369del;Ser1371_Leu1374delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3940,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.3825_3834del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Gln1275HisfsTer?",
        "hgvsWellDefined": "NP_001070651.1:p.[Gln1275_Lys1278delinsHisArg;Leu1280_Glu1284delinsThrArgArgSerTrp;Val1286Ala;Arg1288_Ile1292delinsAlaSerProSerSer;Arg1294_Gly1300delinsSerSerProArgArgValAla;Arg1302del;Ser1304_Leu1307delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4072,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.3957_3966del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Gln1319HisfsTer?",
        "hgvsWellDefined": "NP_001107854.1:p.[Gln1319_Lys1322delinsHisArg;Leu1324_Glu1328delinsThrArgArgSerTrp;Val1330Ala;Arg1332_Ile1336delinsAlaSerProSerSer;Arg1338_Gly1344delinsSerSerProArgArgValAla;Arg1346del;Ser1348_Leu1351delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3993,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.3897_3906del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Gln1299HisfsTer?",
        "hgvsWellDefined": "XP_005255586.2:p.[Gln1299_Lys1302delinsHisArg;Leu1304_Glu1308delinsThrArgArgSerTrp;Val1310Ala;Arg1312_Ile1316delinsAlaSerProSerSer;Arg1318_Gly1324delinsSerSerProArgArgValAla;Arg1326del;Ser1328_Leu1331delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3924,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.3828_3837del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Gln1276HisfsTer?",
        "hgvsWellDefined": "XP_005255588.2:p.[Gln1276_Lys1279delinsHisArg;Leu1281_Glu1285delinsThrArgArgSerTrp;Val1287Ala;Arg1289_Ile1293delinsAlaSerProSerSer;Arg1295_Gly1301delinsSerSerProArgArgValAla;Arg1303del;Ser1305_Leu1308delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4176,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.4080_4089del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Gln1360HisfsTer?",
        "hgvsWellDefined": "XP_011520938.1:p.[Gln1360_Lys1363delinsHisArg;Leu1365_Glu1369delinsThrArgArgSerTrp;Val1371Ala;Arg1373_Ile1377delinsAlaSerProSerSer;Arg1379_Gly1385delinsSerSerProArgArgValAla;Arg1387del;Ser1389_Leu1392delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4173,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.4077_4086del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Gln1359HisfsTer?",
        "hgvsWellDefined": "XP_011520939.1:p.[Gln1359_Lys1362delinsHisArg;Leu1364_Glu1368delinsThrArgArgSerTrp;Val1370Ala;Arg1372_Ile1376delinsAlaSerProSerSer;Arg1378_Gly1384delinsSerSerProArgArgValAla;Arg1386del;Ser1388_Leu1391delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4137,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.3969_3978del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Gln1323HisfsTer?",
        "hgvsWellDefined": "XP_011520940.1:p.[Gln1323_Lys1326delinsHisArg;Leu1328_Glu1332delinsThrArgArgSerTrp;Val1334Ala;Arg1336_Ile1340delinsAlaSerProSerSer;Arg1342_Gly1348delinsSerSerProArgArgValAla;Arg1350del;Ser1352_Leu1355delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4047,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.3951_3960del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Gln1317HisfsTer?",
        "hgvsWellDefined": "XP_011520941.1:p.[Gln1317_Lys1320delinsHisArg;Leu1322_Glu1326delinsThrArgArgSerTrp;Val1328Ala;Arg1330_Ile1334delinsAlaSerProSerSer;Arg1336_Gly1342delinsSerSerProArgArgValAla;Arg1344del;Ser1346_Leu1349delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4044,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.3948_3957del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Gln1316HisfsTer?",
        "hgvsWellDefined": "XP_011520942.1:p.[Gln1316_Lys1319delinsHisArg;Leu1321_Glu1325delinsThrArgArgSerTrp;Val1327Ala;Arg1329_Ile1333delinsAlaSerProSerSer;Arg1335_Gly1341delinsSerSerProArgArgValAla;Arg1343del;Ser1345_Leu1348delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3885,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.3717_3726del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Gln1239HisfsTer?",
        "hgvsWellDefined": "XP_011520943.1:p.[Gln1239_Lys1242delinsHisArg;Leu1244_Glu1248delinsThrArgArgSerTrp;Val1250Ala;Arg1252_Ile1256delinsAlaSerProSerSer;Arg1258_Gly1264delinsSerSerProArgArgValAla;Arg1266del;Ser1268_Leu1271delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4235,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.4026_4035del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Gln1342HisfsTer?",
        "hgvsWellDefined": "NP_000539.2:p.[Gln1342_Lys1345delinsHisArg;Leu1347_Glu1351delinsThrArgArgSerTrp;Val1353Ala;Arg1355_Ile1359delinsAlaSerProSerSer;Arg1361_Gly1367delinsSerSerProArgArgValAla;Arg1369del;Ser1371_Leu1374delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4034,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.3825_3834del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Gln1275HisfsTer?",
        "hgvsWellDefined": "NP_001070651.1:p.[Gln1275_Lys1278delinsHisArg;Leu1280_Glu1284delinsThrArgArgSerTrp;Val1286Ala;Arg1288_Ile1292delinsAlaSerProSerSer;Arg1294_Gly1300delinsSerSerProArgArgValAla;Arg1302del;Ser1304_Leu1307delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4166,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.3957_3966del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Gln1319HisfsTer?",
        "hgvsWellDefined": "NP_001107854.1:p.[Gln1319_Lys1322delinsHisArg;Leu1324_Glu1328delinsThrArgArgSerTrp;Val1330Ala;Arg1332_Ile1336delinsAlaSerProSerSer;Arg1338_Gly1344delinsSerSerProArgArgValAla;Arg1346del;Ser1348_Leu1351delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3926,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.3717_3726del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Gln1239HisfsTer?",
        "hgvsWellDefined": "NP_001305756.1:p.[Gln1239_Lys1242delinsHisArg;Leu1244_Glu1248delinsThrArgArgSerTrp;Val1250Ala;Arg1252_Ile1256delinsAlaSerProSerSer;Arg1258_Gly1264delinsSerSerProArgArgValAla;Arg1266del;Ser1268_Leu1271delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3870,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.3681_3690del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Gln1227HisfsTer?",
        "hgvsWellDefined": "NP_001305758.1:p.[Gln1227_Lys1230delinsHisArg;Leu1232_Glu1236delinsThrArgArgSerTrp;Val1238Ala;Arg1240_Ile1244delinsAlaSerProSerSer;Arg1246_Gly1252delinsSerSerProArgArgValAla;Arg1254del;Ser1256_Leu1259delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3729,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.3294_3303del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Gln1098HisfsTer?",
        "hgvsWellDefined": "NP_001305760.1:p.[Gln1098_Lys1101delinsHisArg;Leu1103_Glu1107delinsThrArgArgSerTrp;Val1109Ala;Arg1111_Ile1115delinsAlaSerProSerSer;Arg1117_Gly1123delinsSerSerProArgArgValAla;Arg1125del;Ser1127_Leu1130delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3935,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.3858_3867del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Gln1286HisfsTer?",
        "hgvsWellDefined": "NP_001305761.1:p.[Gln1286_Lys1289delinsHisArg;Leu1291_Glu1295delinsThrArgArgSerTrp;Val1297Ala;Arg1299_Ile1303delinsAlaSerProSerSer;Arg1305_Gly1311delinsSerSerProArgArgValAla;Arg1313del;Ser1315_Leu1318delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4037,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.3828_3837del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Gln1276HisfsTer?",
        "hgvsWellDefined": "NP_001350457.1:p.[Gln1276_Lys1279delinsHisArg;Leu1281_Glu1285delinsThrArgArgSerTrp;Val1287Ala;Arg1289_Ile1293delinsAlaSerProSerSer;Arg1295_Gly1301delinsSerSerProArgArgValAla;Arg1303del;Ser1305_Leu1308delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4016,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.3897_3906del"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Gln1299HisfsTer?",
        "hgvsWellDefined": "NP_066399.2:p.[Gln1299_Lys1302delinsHisArg;Leu1304_Glu1308delinsThrArgArgSerTrp;Val1310Ala;Arg1312_Ile1316delinsAlaSerProSerSer;Arg1318_Gly1324delinsSerSerProArgArgValAla;Arg1326del;Ser1328_Leu1331delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3924,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.3828_3837del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Gln1276HisfsTer?",
        "hgvsWellDefined": "XP_005255588.2:p.[Gln1276_Lys1279delinsHisArg;Leu1281_Glu1285delinsThrArgArgSerTrp;Val1287Ala;Arg1289_Ile1293delinsAlaSerProSerSer;Arg1295_Gly1301delinsSerSerProArgArgValAla;Arg1303del;Ser1305_Leu1308delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4176,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.4080_4089del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Gln1360HisfsTer?",
        "hgvsWellDefined": "XP_011520938.1:p.[Gln1360_Lys1363delinsHisArg;Leu1365_Glu1369delinsThrArgArgSerTrp;Val1371Ala;Arg1373_Ile1377delinsAlaSerProSerSer;Arg1379_Gly1385delinsSerSerProArgArgValAla;Arg1387del;Ser1389_Leu1392delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4173,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.4077_4086del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Gln1359HisfsTer?",
        "hgvsWellDefined": "XP_011520939.1:p.[Gln1359_Lys1362delinsHisArg;Leu1364_Glu1368delinsThrArgArgSerTrp;Val1370Ala;Arg1372_Ile1376delinsAlaSerProSerSer;Arg1378_Gly1384delinsSerSerProArgArgValAla;Arg1386del;Ser1388_Leu1391delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4269,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.4242_4251del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Gln1414HisfsTer?",
        "hgvsWellDefined": "XP_011520940.2:p.[Gln1414_Lys1417delinsHisArg;Leu1419_Glu1423delinsThrArgArgSerTrp;Val1425Ala;Arg1427_Ile1431delinsAlaSerProSerSer;Arg1433_Gly1439delinsSerSerProArgArgValAla;Arg1441del;Ser1443_Leu1446delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4047,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.3951_3960del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Gln1317HisfsTer?",
        "hgvsWellDefined": "XP_011520941.1:p.[Gln1317_Lys1320delinsHisArg;Leu1322_Glu1326delinsThrArgArgSerTrp;Val1328Ala;Arg1330_Ile1334delinsAlaSerProSerSer;Arg1336_Gly1342delinsSerSerProArgArgValAla;Arg1344del;Ser1346_Leu1349delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4044,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.3948_3957del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Gln1316HisfsTer?",
        "hgvsWellDefined": "XP_011520942.1:p.[Gln1316_Lys1319delinsHisArg;Leu1321_Glu1325delinsThrArgArgSerTrp;Val1327Ala;Arg1329_Ile1333delinsAlaSerProSerSer;Arg1335_Gly1341delinsSerSerProArgArgValAla;Arg1343del;Ser1345_Leu1348delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4119,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.4023_4032del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Gln1341HisfsTer?",
        "hgvsWellDefined": "XP_016879104.1:p.[Gln1341_Lys1344delinsHisArg;Leu1346_Glu1350delinsThrArgArgSerTrp;Val1352Ala;Arg1354_Ile1358delinsAlaSerProSerSer;Arg1360_Gly1366delinsSerSerProArgArgValAla;Arg1368del;Ser1370_Leu1373delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3990,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.3894_3903del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Gln1298HisfsTer?",
        "hgvsWellDefined": "XP_016879105.1:p.[Gln1298_Lys1301delinsHisArg;Leu1303_Glu1307delinsThrArgArgSerTrp;Val1309Ala;Arg1311_Ile1315delinsAlaSerProSerSer;Arg1317_Gly1323delinsSerSerProArgArgValAla;Arg1325del;Ser1327_Leu1330delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4017,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.3990_3999del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Gln1330HisfsTer?",
        "hgvsWellDefined": "XP_016879106.1:p.[Gln1330_Lys1333delinsHisArg;Leu1335_Glu1339delinsThrArgArgSerTrp;Val1341Ala;Arg1343_Ile1347delinsAlaSerProSerSer;Arg1349_Gly1355delinsSerSerProArgArgValAla;Arg1357del;Ser1359_Leu1362delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4263,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.2736_2745del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Gln912HisfsTer?",
        "hgvsWellDefined": "XP_016879107.1:p.[Gln912_Lys915delinsHisArg;Leu917_Glu921delinsThrArgArgSerTrp;Val923Ala;Arg925_Ile929delinsAlaSerProSerSer;Arg931_Gly937delinsSerSerProArgArgValAla;Arg939del;Ser941_Leu944delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3921,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.3825_3834del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Gln1275HisfsTer?",
        "hgvsWellDefined": "XP_024306181.1:p.[Gln1275_Lys1278delinsHisArg;Leu1280_Glu1284delinsThrArgArgSerTrp;Val1286Ala;Arg1288_Ile1292delinsAlaSerProSerSer;Arg1294_Gly1300delinsSerSerProArgArgValAla;Arg1302del;Ser1304_Leu1307delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4145,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.4026_4035del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Gln1342HisfsTer?",
        "hgvsWellDefined": "NP_000539.2:p.[Gln1342_Lys1345delinsHisArg;Leu1347_Glu1351delinsThrArgArgSerTrp;Val1353Ala;Arg1355_Ile1359delinsAlaSerProSerSer;Arg1361_Gly1367delinsSerSerProArgArgValAla;Arg1369del;Ser1371_Leu1374delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4026_4035del"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4026_4035del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Gln1342HisfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Gln1342HisfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4013,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.3894_3903del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Gln1298HisfsTer?",
        "hgvsWellDefined": "NP_001357333.1:p.[Gln1298_Lys1301delinsHisArg;Leu1303_Glu1307delinsThrArgArgSerTrp;Val1309Ala;Arg1311_Ile1315delinsAlaSerProSerSer;Arg1317_Gly1323delinsSerSerProArgArgValAla;Arg1325del;Ser1327_Leu1330delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4016,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.3897_3906del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Gln1299HisfsTer?",
        "hgvsWellDefined": "NP_001357334.1:p.[Gln1299_Lys1302delinsHisArg;Leu1304_Glu1308delinsThrArgArgSerTrp;Val1310Ala;Arg1312_Ile1316delinsAlaSerProSerSer;Arg1318_Gly1324delinsSerSerProArgArgValAla;Arg1326del;Ser1328_Leu1331delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3944,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.3825_3834del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Gln1275HisfsTer?",
        "hgvsWellDefined": "NP_001070651.1:p.[Gln1275_Lys1278delinsHisArg;Leu1280_Glu1284delinsThrArgArgSerTrp;Val1286Ala;Arg1288_Ile1292delinsAlaSerProSerSer;Arg1294_Gly1300delinsSerSerProArgArgValAla;Arg1302del;Ser1304_Leu1307delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4076,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.3957_3966del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Gln1319HisfsTer?",
        "hgvsWellDefined": "NP_001107854.1:p.[Gln1319_Lys1322delinsHisArg;Leu1324_Glu1328delinsThrArgArgSerTrp;Val1330Ala;Arg1332_Ile1336delinsAlaSerProSerSer;Arg1338_Gly1344delinsSerSerProArgArgValAla;Arg1346del;Ser1348_Leu1351delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3836,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.3717_3726del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Gln1239HisfsTer?",
        "hgvsWellDefined": "NP_001305756.1:p.[Gln1239_Lys1242delinsHisArg;Leu1244_Glu1248delinsThrArgArgSerTrp;Val1250Ala;Arg1252_Ile1256delinsAlaSerProSerSer;Arg1258_Gly1264delinsSerSerProArgArgValAla;Arg1266del;Ser1268_Leu1271delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3780,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.3681_3690del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Gln1227HisfsTer?",
        "hgvsWellDefined": "NP_001305758.1:p.[Gln1227_Lys1230delinsHisArg;Leu1232_Glu1236delinsThrArgArgSerTrp;Val1238Ala;Arg1240_Ile1244delinsAlaSerProSerSer;Arg1246_Gly1252delinsSerSerProArgArgValAla;Arg1254del;Ser1256_Leu1259delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3639,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.3294_3303del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Gln1098HisfsTer?",
        "hgvsWellDefined": "NP_001305760.1:p.[Gln1098_Lys1101delinsHisArg;Leu1103_Glu1107delinsThrArgArgSerTrp;Val1109Ala;Arg1111_Ile1115delinsAlaSerProSerSer;Arg1117_Gly1123delinsSerSerProArgArgValAla;Arg1125del;Ser1127_Leu1130delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3935,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.3858_3867del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Gln1286HisfsTer?",
        "hgvsWellDefined": "NP_001305761.1:p.[Gln1286_Lys1289delinsHisArg;Leu1291_Glu1295delinsThrArgArgSerTrp;Val1297Ala;Arg1299_Ile1303delinsAlaSerProSerSer;Arg1305_Gly1311delinsSerSerProArgArgValAla;Arg1313del;Ser1315_Leu1318delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3947,
          "referenceAllele": "GGAGGAGAAG",
          "start": 3937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.3828_3837del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Gln1276HisfsTer?",
        "hgvsWellDefined": "NP_001350457.1:p.[Gln1276_Lys1279delinsHisArg;Leu1281_Glu1285delinsThrArgArgSerTrp;Val1287Ala;Arg1289_Ile1293delinsAlaSerProSerSer;Arg1295_Gly1301delinsSerSerProArgArgValAla;Arg1303del;Ser1305_Leu1308delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4016,
          "referenceAllele": "GGAGGAGAAG",
          "start": 4006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.3897_3906del"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Gln1299HisfsTer?",
        "hgvsWellDefined": "NP_066399.2:p.[Gln1299_Lys1302delinsHisArg;Leu1304_Glu1308delinsThrArgArgSerTrp;Val1310Ala;Arg1312_Ile1316delinsAlaSerProSerSer;Arg1318_Gly1324delinsSerSerProArgArgValAla;Arg1326del;Ser1328_Leu1331delinsLeuTrpThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}