{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3249307640",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.4147_4148insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1382_Ser1383insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4299079[alleleid]",
        "alleleId": 4299079,
        "preferredName": "NM_000548.5(TSC2):c.4147_4148insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1382_Ser1383insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4192146",
        "RCV": [
          "RCV005760827"
        ],
        "variationId": 4192146
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 2084369,
          "referenceAllele": "",
          "start": 2084369
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2084369_2084370insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
        "CM000678.2:g.2084369_2084370insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 2134370,
          "referenceAllele": "",
          "start": 2134370
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2134370_2134371insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
        "CM000678.1:g.2134370_2134371insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 2074371,
          "referenceAllele": "",
          "start": 2074371
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2074371_2074372insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 40064,
          "referenceAllele": "",
          "start": 40064
        }
      ],
      "hgvs": [
        "NG_005895.1:g.40064_40065insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
        "LRG_487:g.40064_40065insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 3978,
          "referenceAllele": "",
          "start": 3978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*2496_*2497insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*2496_*2497insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4110,
          "referenceAllele": "",
          "start": 4110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.3994_3995insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Leu1331_Ser1332insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000495146.2:p.Leu1331_Ser1332insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4215,
          "referenceAllele": "",
          "start": 4215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.4144_4145insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Leu1381_Ser1382insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000495459.2:p.Leu1381_Ser1382insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 5182,
          "referenceAllele": "",
          "start": 5182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*4527_*4528insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*4527_*4528insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 7234,
          "referenceAllele": "",
          "start": 7234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*6896_*6897insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*6896_*6897insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4257,
          "referenceAllele": "",
          "start": 4257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.4147_4148insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Leu1382_Ser1383insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000219476.3:p.Leu1382_Ser1383insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4147_4148insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4147_4148insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Leu1382_Ser1383insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Leu1382_Ser1383insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4153,
          "referenceAllele": "",
          "start": 4153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.4078_4079insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Leu1359_Ser1360insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000344383.4:p.Leu1359_Ser1360insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4052,
          "referenceAllele": "",
          "start": 4052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.3946_3947insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Leu1315_Ser1316insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000384468.2:p.Leu1315_Ser1316insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4047,
          "referenceAllele": "",
          "start": 4047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.3979_3980insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Leu1326_Ser1327insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000454487.1:p.Leu1326_Ser1327insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 383,
          "referenceAllele": "",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.2:c.383_384insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760583"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 2029,
          "referenceAllele": "",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.2:n.2029_2030insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760618"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 2801,
          "referenceAllele": "",
          "start": 2801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.2801_2802insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4070,
          "referenceAllele": "",
          "start": 4070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.4018_4019insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Leu1339_Ser1340insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000495099.1:p.Leu1339_Ser1340insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 329,
          "referenceAllele": "",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642728.1:n.329_330insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766898"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4003,
          "referenceAllele": "",
          "start": 4003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.3949_3950insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Leu1316_Ser1317insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000493846.1:p.Leu1316_Ser1317insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4124,
          "referenceAllele": "",
          "start": 4124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.4015_4016insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Leu1338_Ser1339insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000494514.1:p.Leu1338_Ser1339insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4064,
          "referenceAllele": "",
          "start": 4064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.3946_3947insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Leu1315_Ser1316insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000494747.1:p.Leu1315_Ser1316insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 161,
          "referenceAllele": "",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643177.1:n.161_162insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767136"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 1795,
          "referenceAllele": "",
          "start": 1795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643426.1:n.1795_1796insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767277"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4196,
          "referenceAllele": "",
          "start": 4196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.4078_4079insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Leu1359_Ser1360insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000495927.1:p.Leu1359_Ser1360insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4072,
          "referenceAllele": "",
          "start": 4072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.4018_4019insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Leu1339_Ser1340insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000496262.1:p.Leu1339_Ser1340insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4008,
          "referenceAllele": "",
          "start": 4008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.3946_3947insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Leu1315_Ser1316insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000496611.1:p.Leu1315_Ser1316insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4049,
          "referenceAllele": "",
          "start": 4049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.3949_3950insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Leu1316_Ser1317insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000496317.1:p.Leu1316_Ser1317insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4068,
          "referenceAllele": "",
          "start": 4068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.4068_4069insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 2231,
          "referenceAllele": "",
          "start": 2231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.2231_2232insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 390,
          "referenceAllele": "",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645186.1:c.390_391insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768213"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4233,
          "referenceAllele": "",
          "start": 4233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.4147_4148insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Leu1382_Ser1383insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000495921.1:p.Leu1382_Ser1383insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 2962,
          "referenceAllele": "",
          "start": 2962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.2962_2963insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 1399,
          "referenceAllele": "",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646674.1:n.1399_1400insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769003"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 1370,
          "referenceAllele": "",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647042.1:n.1370_1371insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769203"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 1260,
          "referenceAllele": "",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647180.1:n.1260_1261insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769277"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4777,
          "referenceAllele": "",
          "start": 4777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.4147_4148insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Leu1382_Ser1383insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000219476.3:p.Leu1382_Ser1383insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4153,
          "referenceAllele": "",
          "start": 4153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.4078_4079insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Leu1359_Ser1360insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000344383.4:p.Leu1359_Ser1360insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 3897,
          "referenceAllele": "",
          "start": 3897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.3802_3803insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Leu1267_Ser1268insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000371978.6:p.Leu1267_Ser1268insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4052,
          "referenceAllele": "",
          "start": 4052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.3946_3947insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Leu1315_Ser1316insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000384468.2:p.Leu1315_Ser1316insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 3703,
          "referenceAllele": "",
          "start": 3703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*3314_*3315insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*3314_*3315insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 3919,
          "referenceAllele": "",
          "start": 3919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.3838_3839insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Leu1279_Ser1280insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000399232.2:p.Leu1279_Ser1280insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 1905,
          "referenceAllele": "",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000497886.5:n.1905_1906insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334013"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4047,
          "referenceAllele": "",
          "start": 4047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.3979_3980insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Leu1326_Ser1327insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "ENSP00000454487.1:p.Leu1326_Ser1327insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 329,
          "referenceAllele": "",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.1:c.329_330insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246736"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 1262,
          "referenceAllele": "",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.1:n.1262_1263insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381794"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4253,
          "referenceAllele": "",
          "start": 4253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.4147_4148insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
        "LRG_487t1:c.4147_4148insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Leu1382_Ser1383insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_000539.2:p.Leu1382_Ser1383insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4052,
          "referenceAllele": "",
          "start": 4052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.3946_3947insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Leu1315_Ser1316insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_001070651.1:p.Leu1315_Ser1316insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4184,
          "referenceAllele": "",
          "start": 4184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.4078_4079insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Leu1359_Ser1360insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_001107854.1:p.Leu1359_Ser1360insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4105,
          "referenceAllele": "",
          "start": 4105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.4018_4019insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Leu1339_Ser1340insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "XP_005255586.2:p.Leu1339_Ser1340insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4036,
          "referenceAllele": "",
          "start": 4036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.3949_3950insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Leu1316_Ser1317insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "XP_005255588.2:p.Leu1316_Ser1317insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4288,
          "referenceAllele": "",
          "start": 4288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.4201_4202insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Leu1400_Ser1401insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "XP_011520938.1:p.Leu1400_Ser1401insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4285,
          "referenceAllele": "",
          "start": 4285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.4198_4199insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Leu1399_Ser1400insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "XP_011520939.1:p.Leu1399_Ser1400insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4249,
          "referenceAllele": "",
          "start": 4249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.4090_4091insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Leu1363_Ser1364insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "XP_011520940.1:p.Leu1363_Ser1364insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4159,
          "referenceAllele": "",
          "start": 4159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.4072_4073insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Leu1357_Ser1358insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "XP_011520941.1:p.Leu1357_Ser1358insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4156,
          "referenceAllele": "",
          "start": 4156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.4069_4070insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Leu1356_Ser1357insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "XP_011520942.1:p.Leu1356_Ser1357insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 3997,
          "referenceAllele": "",
          "start": 3997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.3838_3839insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Leu1279_Ser1280insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "XP_011520943.1:p.Leu1279_Ser1280insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4347,
          "referenceAllele": "",
          "start": 4347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.4147_4148insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Leu1382_Ser1383insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_000539.2:p.Leu1382_Ser1383insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4146,
          "referenceAllele": "",
          "start": 4146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.3946_3947insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Leu1315_Ser1316insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_001070651.1:p.Leu1315_Ser1316insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4278,
          "referenceAllele": "",
          "start": 4278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.4078_4079insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Leu1359_Ser1360insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_001107854.1:p.Leu1359_Ser1360insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4038,
          "referenceAllele": "",
          "start": 4038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.3838_3839insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Leu1279_Ser1280insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_001305756.1:p.Leu1279_Ser1280insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 3982,
          "referenceAllele": "",
          "start": 3982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.3802_3803insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Leu1267_Ser1268insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_001305758.1:p.Leu1267_Ser1268insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 3841,
          "referenceAllele": "",
          "start": 3841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.3415_3416insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Leu1138_Ser1139insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_001305760.1:p.Leu1138_Ser1139insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4047,
          "referenceAllele": "",
          "start": 4047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.3979_3980insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Leu1326_Ser1327insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_001305761.1:p.Leu1326_Ser1327insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4149,
          "referenceAllele": "",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.3949_3950insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Leu1316_Ser1317insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_001350457.1:p.Leu1316_Ser1317insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4128,
          "referenceAllele": "",
          "start": 4128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.4018_4019insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Leu1339_Ser1340insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_066399.2:p.Leu1339_Ser1340insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4036,
          "referenceAllele": "",
          "start": 4036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.3949_3950insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Leu1316_Ser1317insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "XP_005255588.2:p.Leu1316_Ser1317insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4288,
          "referenceAllele": "",
          "start": 4288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.4201_4202insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Leu1400_Ser1401insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "XP_011520938.1:p.Leu1400_Ser1401insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4285,
          "referenceAllele": "",
          "start": 4285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.4198_4199insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Leu1399_Ser1400insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "XP_011520939.1:p.Leu1399_Ser1400insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4381,
          "referenceAllele": "",
          "start": 4381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.4363_4364insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Leu1454_Ser1455insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "XP_011520940.2:p.Leu1454_Ser1455insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4159,
          "referenceAllele": "",
          "start": 4159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.4072_4073insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Leu1357_Ser1358insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "XP_011520941.1:p.Leu1357_Ser1358insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4156,
          "referenceAllele": "",
          "start": 4156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.4069_4070insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Leu1356_Ser1357insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "XP_011520942.1:p.Leu1356_Ser1357insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4231,
          "referenceAllele": "",
          "start": 4231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.4144_4145insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Leu1381_Ser1382insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "XP_016879104.1:p.Leu1381_Ser1382insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4102,
          "referenceAllele": "",
          "start": 4102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.4015_4016insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Leu1338_Ser1339insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "XP_016879105.1:p.Leu1338_Ser1339insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4129,
          "referenceAllele": "",
          "start": 4129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.4111_4112insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Leu1370_Ser1371insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "XP_016879106.1:p.Leu1370_Ser1371insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4375,
          "referenceAllele": "",
          "start": 4375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.2857_2858insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Leu952_Ser953insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "XP_016879107.1:p.Leu952_Ser953insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4033,
          "referenceAllele": "",
          "start": 4033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.3946_3947insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Leu1315_Ser1316insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "XP_024306181.1:p.Leu1315_Ser1316insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4257,
          "referenceAllele": "",
          "start": 4257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.4147_4148insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Leu1382_Ser1383insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_000539.2:p.Leu1382_Ser1383insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4147_4148insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4147_4148insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Leu1382_Ser1383insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Leu1382_Ser1383insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4125,
          "referenceAllele": "",
          "start": 4125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.4015_4016insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Leu1338_Ser1339insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_001357333.1:p.Leu1338_Ser1339insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4128,
          "referenceAllele": "",
          "start": 4128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.4018_4019insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Leu1339_Ser1340insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_001357334.1:p.Leu1339_Ser1340insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4056,
          "referenceAllele": "",
          "start": 4056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.3946_3947insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Leu1315_Ser1316insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_001070651.1:p.Leu1315_Ser1316insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4188,
          "referenceAllele": "",
          "start": 4188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.4078_4079insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Leu1359_Ser1360insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_001107854.1:p.Leu1359_Ser1360insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 3948,
          "referenceAllele": "",
          "start": 3948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.3838_3839insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Leu1279_Ser1280insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_001305756.1:p.Leu1279_Ser1280insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 3892,
          "referenceAllele": "",
          "start": 3892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.3802_3803insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Leu1267_Ser1268insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_001305758.1:p.Leu1267_Ser1268insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 3751,
          "referenceAllele": "",
          "start": 3751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.3415_3416insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Leu1138_Ser1139insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_001305760.1:p.Leu1138_Ser1139insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4047,
          "referenceAllele": "",
          "start": 4047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.3979_3980insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Leu1326_Ser1327insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_001305761.1:p.Leu1326_Ser1327insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4059,
          "referenceAllele": "",
          "start": 4059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.3949_3950insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Leu1316_Ser1317insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_001350457.1:p.Leu1316_Ser1317insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "coordinates": [
        {
          "allele": "TGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA",
          "end": 4128,
          "referenceAllele": "",
          "start": 4128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.4018_4019insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Leu1339_Ser1340insMetProSerValAspLeuSerPheGlnProSerGlnProLeu",
        "hgvsWellDefined": "NP_066399.2:p.Leu1339_Ser1340insMetProSerValAspLeuSerPheGlnProSerGlnProLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}