{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3265648710",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.4134_4135insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1379HisfsTer3)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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          "referenceAllele": "",
          "start": 2084356
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2084356_2084357insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
        "CM000678.2:g.2084356_2084357insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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          "referenceAllele": "",
          "start": 2134357
        }
      ],
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        "NC_000016.9:g.2134357_2134358insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
        "CM000678.1:g.2134357_2134358insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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          "referenceAllele": "",
          "start": 2074358
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2074358_2074359insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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          "referenceAllele": "",
          "start": 40051
        }
      ],
      "hgvs": [
        "NG_005895.1:g.40051_40052insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
        "LRG_487:g.40051_40052insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 3965,
          "referenceAllele": "",
          "start": 3965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*2483_*2484insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*2483_*2484insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4097,
          "referenceAllele": "",
          "start": 4097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.3981_3982insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Ser1328HisfsTer3",
        "hgvsWellDefined": "ENSP00000495146.2:p.[Ser1328_Pro1330delinsHis;Ser1332_Gly1357del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4202,
          "referenceAllele": "",
          "start": 4202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.4131_4132insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Ser1378HisfsTer3",
        "hgvsWellDefined": "ENSP00000495459.2:p.[Ser1378_Pro1380delinsHis;Ser1382_Gly1407del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 5169,
          "referenceAllele": "",
          "start": 5169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*4514_*4515insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*4514_*4515insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 7221,
          "referenceAllele": "",
          "start": 7221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*6883_*6884insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*6883_*6884insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4244,
          "referenceAllele": "",
          "start": 4244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.4134_4135insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Ser1379HisfsTer3",
        "hgvsWellDefined": "ENSP00000219476.3:p.[Ser1379_Pro1381delinsHis;Ser1383_Gly1408del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4134_4135insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4134_4135insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Ser1379HisfsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Ser1379HisfsTer3"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4140,
          "referenceAllele": "",
          "start": 4140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.4065_4066insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Ser1356HisfsTer3",
        "hgvsWellDefined": "ENSP00000344383.4:p.[Ser1356_Pro1358delinsHis;Ser1360_Gly1385del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4039,
          "referenceAllele": "",
          "start": 4039
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.3933_3934insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Ser1312HisfsTer3",
        "hgvsWellDefined": "ENSP00000384468.2:p.[Ser1312_Pro1314delinsHis;Ser1316_Gly1341del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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          "referenceAllele": "",
          "start": 4034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.3966_3967insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Ser1323HisfsTer3",
        "hgvsWellDefined": "ENSP00000454487.1:p.[Ser1323_Pro1325delinsHis;Ser1327_Gly1352del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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          "referenceAllele": "",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
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      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.2:c.370_371insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
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      "referenceSequence": "http://reg.genome.network/refseq/RS760583"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 2016,
          "referenceAllele": "",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.2:n.2016_2017insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
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      "referenceSequence": "http://reg.genome.network/refseq/RS760618"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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          "start": 2788
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
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      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.2788_2789insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
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      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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          "start": 4057
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
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      "hgvs": [
        "ENST00000642561.1:c.4005_4006insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Ser1336HisfsTer3",
        "hgvsWellDefined": "ENSP00000495099.1:p.[Ser1336_Pro1338delinsHis;Ser1340_Gly1365del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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          "start": 316
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
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      "hgvs": [
        "ENST00000642728.1:n.316_317insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
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      "referenceSequence": "http://reg.genome.network/refseq/RS766898"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
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        "ENST00000642797.1:c.3936_3937insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
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      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Ser1313HisfsTer3",
        "hgvsWellDefined": "ENSP00000493846.1:p.[Ser1313_Pro1315delinsHis;Ser1317_Gly1342del]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
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        "ENST00000642936.1:c.4002_4003insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
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      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Ser1335HisfsTer3",
        "hgvsWellDefined": "ENSP00000494514.1:p.[Ser1335_Pro1337delinsHis;Ser1339_Gly1364del]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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      ],
      "gene": "http://reg.genome.network/gene/GN012363",
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        "ENST00000643088.1:c.3933_3934insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
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      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Ser1312HisfsTer3",
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      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS767136"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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        "ENST00000643426.1:n.1782_1783insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
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      "referenceSequence": "http://reg.genome.network/refseq/RS767277"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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      ],
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      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Ser1356HisfsTer3",
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      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
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    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000496262.1:p.[Ser1336_Pro1338delinsHis;Ser1340_Gly1365del]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
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    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000496611.1:p.[Ser1312_Pro1314delinsHis;Ser1316_Gly1341del]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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          "referenceAllele": "",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Ser1313HisfsTer3",
        "hgvsWellDefined": "ENSP00000496317.1:p.[Ser1313_Pro1315delinsHis;Ser1317_Gly1342del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4055,
          "referenceAllele": "",
          "start": 4055
        }
      ],
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        "ENST00000644399.1:c.4055_4056insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
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      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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          "referenceAllele": "",
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        }
      ],
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    {
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    {
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        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
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    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
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        "hgvs": "NP_001070651.1:p.Ser1312HisfsTer3",
        "hgvsWellDefined": "NP_001070651.1:p.[Ser1312_Pro1314delinsHis;Ser1316_Gly1341del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4265,
          "referenceAllele": "",
          "start": 4265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.4065_4066insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Ser1356HisfsTer3",
        "hgvsWellDefined": "NP_001107854.1:p.[Ser1356_Pro1358delinsHis;Ser1360_Gly1385del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4025,
          "referenceAllele": "",
          "start": 4025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.3825_3826insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Ser1276HisfsTer3",
        "hgvsWellDefined": "NP_001305756.1:p.[Ser1276_Pro1278delinsHis;Ser1280_Gly1305del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 3969,
          "referenceAllele": "",
          "start": 3969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.3789_3790insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Ser1264HisfsTer3",
        "hgvsWellDefined": "NP_001305758.1:p.[Ser1264_Pro1266delinsHis;Ser1268_Gly1293del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 3828,
          "referenceAllele": "",
          "start": 3828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.3402_3403insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Ser1135HisfsTer3",
        "hgvsWellDefined": "NP_001305760.1:p.[Ser1135_Pro1137delinsHis;Ser1139_Gly1164del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4034,
          "referenceAllele": "",
          "start": 4034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.3966_3967insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Ser1323HisfsTer3",
        "hgvsWellDefined": "NP_001305761.1:p.[Ser1323_Pro1325delinsHis;Ser1327_Gly1352del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4136,
          "referenceAllele": "",
          "start": 4136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.3936_3937insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Ser1313HisfsTer3",
        "hgvsWellDefined": "NP_001350457.1:p.[Ser1313_Pro1315delinsHis;Ser1317_Gly1342del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4115,
          "referenceAllele": "",
          "start": 4115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.4005_4006insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Ser1336HisfsTer3",
        "hgvsWellDefined": "NP_066399.2:p.[Ser1336_Pro1338delinsHis;Ser1340_Gly1365del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4023,
          "referenceAllele": "",
          "start": 4023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.3936_3937insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Ser1313HisfsTer3",
        "hgvsWellDefined": "XP_005255588.2:p.[Ser1313_Pro1315delinsHis;Ser1317_Gly1342del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4275,
          "referenceAllele": "",
          "start": 4275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.4188_4189insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Ser1397HisfsTer3",
        "hgvsWellDefined": "XP_011520938.1:p.[Ser1397_Pro1399delinsHis;Ser1401_Gly1426del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4272,
          "referenceAllele": "",
          "start": 4272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.4185_4186insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Ser1396HisfsTer3",
        "hgvsWellDefined": "XP_011520939.1:p.[Ser1396_Pro1398delinsHis;Ser1400_Gly1425del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4368,
          "referenceAllele": "",
          "start": 4368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.4350_4351insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Ser1451HisfsTer3",
        "hgvsWellDefined": "XP_011520940.2:p.[Ser1451_Pro1453delinsHis;Ser1455_Gly1480del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4146,
          "referenceAllele": "",
          "start": 4146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.4059_4060insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Ser1354HisfsTer3",
        "hgvsWellDefined": "XP_011520941.1:p.[Ser1354_Pro1356delinsHis;Ser1358_Gly1383del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4143,
          "referenceAllele": "",
          "start": 4143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.4056_4057insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Ser1353HisfsTer3",
        "hgvsWellDefined": "XP_011520942.1:p.[Ser1353_Pro1355delinsHis;Ser1357_Gly1382del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4218,
          "referenceAllele": "",
          "start": 4218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.4131_4132insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Ser1378HisfsTer3",
        "hgvsWellDefined": "XP_016879104.1:p.[Ser1378_Pro1380delinsHis;Ser1382_Gly1407del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4089,
          "referenceAllele": "",
          "start": 4089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.4002_4003insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Ser1335HisfsTer3",
        "hgvsWellDefined": "XP_016879105.1:p.[Ser1335_Pro1337delinsHis;Ser1339_Gly1364del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4116,
          "referenceAllele": "",
          "start": 4116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.4098_4099insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Ser1367HisfsTer3",
        "hgvsWellDefined": "XP_016879106.1:p.[Ser1367_Pro1369delinsHis;Ser1371_Gly1396del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4362,
          "referenceAllele": "",
          "start": 4362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.2844_2845insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Ser949HisfsTer3",
        "hgvsWellDefined": "XP_016879107.1:p.[Ser949_Pro951delinsHis;Ser953_Gly978del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4020,
          "referenceAllele": "",
          "start": 4020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.3933_3934insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Ser1312HisfsTer3",
        "hgvsWellDefined": "XP_024306181.1:p.[Ser1312_Pro1314delinsHis;Ser1316_Gly1341del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4244,
          "referenceAllele": "",
          "start": 4244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.4134_4135insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Ser1379HisfsTer3",
        "hgvsWellDefined": "NP_000539.2:p.[Ser1379_Pro1381delinsHis;Ser1383_Gly1408del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4134_4135insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4134_4135insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Ser1379HisfsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Ser1379HisfsTer3"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4112,
          "referenceAllele": "",
          "start": 4112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.4002_4003insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Ser1335HisfsTer3",
        "hgvsWellDefined": "NP_001357333.1:p.[Ser1335_Pro1337delinsHis;Ser1339_Gly1364del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4115,
          "referenceAllele": "",
          "start": 4115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.4005_4006insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Ser1336HisfsTer3",
        "hgvsWellDefined": "NP_001357334.1:p.[Ser1336_Pro1338delinsHis;Ser1340_Gly1365del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4043,
          "referenceAllele": "",
          "start": 4043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.3933_3934insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Ser1312HisfsTer3",
        "hgvsWellDefined": "NP_001070651.1:p.[Ser1312_Pro1314delinsHis;Ser1316_Gly1341del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4175,
          "referenceAllele": "",
          "start": 4175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.4065_4066insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Ser1356HisfsTer3",
        "hgvsWellDefined": "NP_001107854.1:p.[Ser1356_Pro1358delinsHis;Ser1360_Gly1385del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 3935,
          "referenceAllele": "",
          "start": 3935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.3825_3826insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Ser1276HisfsTer3",
        "hgvsWellDefined": "NP_001305756.1:p.[Ser1276_Pro1278delinsHis;Ser1280_Gly1305del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 3879,
          "referenceAllele": "",
          "start": 3879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.3789_3790insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Ser1264HisfsTer3",
        "hgvsWellDefined": "NP_001305758.1:p.[Ser1264_Pro1266delinsHis;Ser1268_Gly1293del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 3738,
          "referenceAllele": "",
          "start": 3738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.3402_3403insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Ser1135HisfsTer3",
        "hgvsWellDefined": "NP_001305760.1:p.[Ser1135_Pro1137delinsHis;Ser1139_Gly1164del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4034,
          "referenceAllele": "",
          "start": 4034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.3966_3967insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Ser1323HisfsTer3",
        "hgvsWellDefined": "NP_001305761.1:p.[Ser1323_Pro1325delinsHis;Ser1327_Gly1352del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4046,
          "referenceAllele": "",
          "start": 4046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.3936_3937insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Ser1313HisfsTer3",
        "hgvsWellDefined": "NP_001350457.1:p.[Ser1313_Pro1315delinsHis;Ser1317_Gly1342del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "coordinates": [
        {
          "allele": "CATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA",
          "end": 4115,
          "referenceAllele": "",
          "start": 4115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.4005_4006insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Ser1336HisfsTer3",
        "hgvsWellDefined": "NP_066399.2:p.[Ser1336_Pro1338delinsHis;Ser1340_Gly1365del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}