{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16615180",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.4951_4957del (p.Asn1651ProfsTer19)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=401686[alleleid]",
        "alleleId": 401686,
        "preferredName": "NM_000548.5(TSC2):c.4951_4957del (p.Asn1651fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/406053",
        "RCV": [
          "RCV000469350"
        ],
        "variationId": 406053
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2136834_2136840del?assembly=hg19",
        "id": "chr16:g.2136834_2136840del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2086833_2086839del?assembly=hg38",
        "id": "chr16:g.2086833_2086839del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060500950",
        "rs": 1060500950
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 2086839,
          "referenceAllele": "AATGACT",
          "start": 2086832
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2086833_2086839del",
        "CM000678.2:g.2086833_2086839del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 2136840,
          "referenceAllele": "AATGACT",
          "start": 2136833
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2136834_2136840del",
        "CM000678.1:g.2136834_2136840del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 2076841,
          "referenceAllele": "AATGACT",
          "start": 2076834
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2076835_2076841del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 42534,
          "referenceAllele": "AATGACT",
          "start": 42527
        }
      ],
      "hgvs": [
        "NG_005895.1:g.42528_42534del",
        "LRG_487:g.42528_42534del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 56388,
          "referenceAllele": "AGTCATT",
          "start": 56381
        }
      ],
      "hgvs": [
        "NG_008617.1:g.56382_56388del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001129"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4788,
          "referenceAllele": "AATGACT",
          "start": 4781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*3300_*3306del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*3300_*3306del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4920,
          "referenceAllele": "AATGACT",
          "start": 4913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.4798_4804del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Asn1600ProfsTer19",
        "hgvsWellDefined": "ENSP00000495146.2:p.[Asn1600_Lys1607delinsProValArgThrSerSer;Gly1609_Val1622delinsAlaProSerArgAlaSerSer;Pro1624del;Asp1626_Leu1631delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5025,
          "referenceAllele": "AATGACT",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.4948_4954del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Asn1650ProfsTer19",
        "hgvsWellDefined": "ENSP00000495459.2:p.[Asn1650_Lys1657delinsProValArgThrSerSer;Gly1659_Val1672delinsAlaProSerArgAlaSerSer;Pro1674del;Asp1676_Leu1681delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6125,
          "referenceAllele": "AATGACT",
          "start": 6118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*5464_*5470del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*5464_*5470del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8044,
          "referenceAllele": "AATGACT",
          "start": 8037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*7700_*7706del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*7700_*7706del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5067,
          "referenceAllele": "AATGACT",
          "start": 5060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.4951_4957del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Asn1651ProfsTer19",
        "hgvsWellDefined": "ENSP00000219476.3:p.[Asn1651_Lys1658delinsProValArgThrSerSer;Gly1660_Val1673delinsAlaProSerArgAlaSerSer;Pro1675del;Asp1677_Leu1682delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4951_4957del"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4951_4957del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Asn1651ProfsTer19"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Asn1651ProfsTer19"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4963,
          "referenceAllele": "AATGACT",
          "start": 4956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.4882_4888del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Asn1628ProfsTer19",
        "hgvsWellDefined": "ENSP00000344383.4:p.[Asn1628_Lys1635delinsProValArgThrSerSer;Gly1637_Val1650delinsAlaProSerArgAlaSerSer;Pro1652del;Asp1654_Leu1659delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4862,
          "referenceAllele": "AATGACT",
          "start": 4855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.4750_4756del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Asn1584ProfsTer19",
        "hgvsWellDefined": "ENSP00000384468.2:p.[Asn1584_Lys1591delinsProValArgThrSerSer;Gly1593_Val1606delinsAlaProSerArgAlaSerSer;Pro1608del;Asp1610_Leu1615delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4857,
          "referenceAllele": "AATGACT",
          "start": 4850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.4783_4789del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Asn1595ProfsTer19",
        "hgvsWellDefined": "ENSP00000454487.1:p.[Asn1595_Lys1602delinsProValArgThrSerSer;Gly1604_Val1617delinsAlaProSerArgAlaSerSer;Pro1619del;Asp1621_Leu1626delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1180,
          "referenceAllele": "AATGACT",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.2:c.1174_1180del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760583"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2839,
          "referenceAllele": "AATGACT",
          "start": 2832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.2:n.2833_2839del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760618"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3611,
          "referenceAllele": "AATGACT",
          "start": 3604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.3605_3611del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4880,
          "referenceAllele": "AATGACT",
          "start": 4873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.4822_4828del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Asn1608ProfsTer19",
        "hgvsWellDefined": "ENSP00000495099.1:p.[Asn1608_Lys1615delinsProValArgThrSerSer;Gly1617_Val1630delinsAlaProSerArgAlaSerSer;Pro1632del;Asp1634_Leu1639delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1139,
          "referenceAllele": "AATGACT",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642728.1:n.1133_1139del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766898"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 554,
          "referenceAllele": "AATGACT",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642791.1:n.548_554del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766926"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4813,
          "referenceAllele": "AATGACT",
          "start": 4806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.4753_4759del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Asn1585ProfsTer19",
        "hgvsWellDefined": "ENSP00000493846.1:p.[Asn1585_Lys1592delinsProValArgThrSerSer;Gly1594_Val1607delinsAlaProSerArgAlaSerSer;Pro1609del;Asp1611_Leu1616delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4934,
          "referenceAllele": "AATGACT",
          "start": 4927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.4819_4825del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Asn1607ProfsTer19",
        "hgvsWellDefined": "ENSP00000494514.1:p.[Asn1607_Lys1614delinsProValArgThrSerSer;Gly1616_Val1629delinsAlaProSerArgAlaSerSer;Pro1631del;Asp1633_Leu1638delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4868,
          "referenceAllele": "AATGACT",
          "start": 4861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.4744_4750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Asn1582ProfsTer19",
        "hgvsWellDefined": "ENSP00000494747.1:p.[Asn1582_Lys1589delinsProValArgThrSerSer;Gly1591_Val1604delinsAlaProSerArgAlaSerSer;Pro1606del;Asp1608_Leu1613delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 971,
          "referenceAllele": "AATGACT",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643177.1:n.965_971del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767136"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2605,
          "referenceAllele": "AATGACT",
          "start": 2598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643426.1:n.2599_2605del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767277"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5000,
          "referenceAllele": "AATGACT",
          "start": 4993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.4876_4882del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Asn1626ProfsTer19",
        "hgvsWellDefined": "ENSP00000495927.1:p.[Asn1626_Lys1633delinsProValArgThrSerSer;Gly1635_Val1648delinsAlaProSerArgAlaSerSer;Pro1650del;Asp1652_Leu1657delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4882,
          "referenceAllele": "AATGACT",
          "start": 4875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.4822_4828del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Asn1608ProfsTer19",
        "hgvsWellDefined": "ENSP00000496262.1:p.[Asn1608_Lys1615delinsProValArgThrSerSer;Gly1617_Val1630delinsAlaProSerArgAlaSerSer;Pro1632del;Asp1634_Leu1639delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 439,
          "referenceAllele": "AATGACT",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644278.1:n.433_439del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767738"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4818,
          "referenceAllele": "AATGACT",
          "start": 4811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.4750_4756del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Asn1584ProfsTer19",
        "hgvsWellDefined": "ENSP00000496611.1:p.[Asn1584_Lys1591delinsProValArgThrSerSer;Gly1593_Val1606delinsAlaProSerArgAlaSerSer;Pro1608del;Asp1610_Leu1615delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4853,
          "referenceAllele": "AATGACT",
          "start": 4846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.4747_4753del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Asn1583ProfsTer19",
        "hgvsWellDefined": "ENSP00000496317.1:p.[Asn1583_Lys1590delinsProValArgThrSerSer;Gly1592_Val1605delinsAlaProSerArgAlaSerSer;Pro1607del;Asp1609_Leu1614delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4878,
          "referenceAllele": "AATGACT",
          "start": 4871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.4872_4878del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3041,
          "referenceAllele": "AATGACT",
          "start": 3034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.3035_3041del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5037,
          "referenceAllele": "AATGACT",
          "start": 5030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.4945_4951del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Asn1649ProfsTer19",
        "hgvsWellDefined": "ENSP00000495921.1:p.[Asn1649_Lys1656delinsProValArgThrSerSer;Gly1658_Val1671delinsAlaProSerArgAlaSerSer;Pro1673del;Asp1675_Leu1680delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 118,
          "referenceAllele": "AATGACT",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646557.1:n.112_118del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768936"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3772,
          "referenceAllele": "AATGACT",
          "start": 3765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.3766_3772del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2209,
          "referenceAllele": "AATGACT",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646674.1:n.2203_2209del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2180,
          "referenceAllele": "AATGACT",
          "start": 2173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647042.1:n.2174_2180del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769203"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2070,
          "referenceAllele": "AATGACT",
          "start": 2063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647180.1:n.2064_2070del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769277"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5587,
          "referenceAllele": "AATGACT",
          "start": 5580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.4951_4957del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Asn1651ProfsTer19",
        "hgvsWellDefined": "ENSP00000219476.3:p.[Asn1651_Lys1658delinsProValArgThrSerSer;Gly1660_Val1673delinsAlaProSerArgAlaSerSer;Pro1675del;Asp1677_Leu1682delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4963,
          "referenceAllele": "AATGACT",
          "start": 4956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.4882_4888del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Asn1628ProfsTer19",
        "hgvsWellDefined": "ENSP00000344383.4:p.[Asn1628_Lys1635delinsProValArgThrSerSer;Gly1637_Val1650delinsAlaProSerArgAlaSerSer;Pro1652del;Asp1654_Leu1659delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4707,
          "referenceAllele": "AATGACT",
          "start": 4700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.4606_4612del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Asn1536ProfsTer19",
        "hgvsWellDefined": "ENSP00000371978.6:p.[Asn1536_Lys1543delinsProValArgThrSerSer;Gly1545_Val1558delinsAlaProSerArgAlaSerSer;Pro1560del;Asp1562_Leu1567delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4862,
          "referenceAllele": "AATGACT",
          "start": 4855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.4750_4756del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Asn1584ProfsTer19",
        "hgvsWellDefined": "ENSP00000384468.2:p.[Asn1584_Lys1591delinsProValArgThrSerSer;Gly1593_Val1606delinsAlaProSerArgAlaSerSer;Pro1608del;Asp1610_Leu1615delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4513,
          "referenceAllele": "AATGACT",
          "start": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*4118_*4124del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*4118_*4124del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4729,
          "referenceAllele": "AATGACT",
          "start": 4722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.4642_4648del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Asn1548ProfsTer19",
        "hgvsWellDefined": "ENSP00000399232.2:p.[Asn1548_Lys1555delinsProValArgThrSerSer;Gly1557_Val1570delinsAlaProSerArgAlaSerSer;Pro1572del;Asp1574_Leu1579delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2680,
          "referenceAllele": "AATGACT",
          "start": 2673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000497886.5:n.2674_2680del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334013"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4857,
          "referenceAllele": "AATGACT",
          "start": 4850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.4783_4789del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Asn1595ProfsTer19",
        "hgvsWellDefined": "ENSP00000454487.1:p.[Asn1595_Lys1602delinsProValArgThrSerSer;Gly1604_Val1617delinsAlaProSerArgAlaSerSer;Pro1619del;Asp1621_Leu1626delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1139,
          "referenceAllele": "AATGACT",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.1:c.1133_1139del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246736"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2072,
          "referenceAllele": "AATGACT",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.1:n.2066_2072del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381794"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5063,
          "referenceAllele": "AATGACT",
          "start": 5056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.4951_4957del",
        "LRG_487t1:c.4951_4957del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Asn1651ProfsTer19",
        "hgvsWellDefined": "NP_000539.2:p.[Asn1651_Lys1658delinsProValArgThrSerSer;Gly1660_Val1673delinsAlaProSerArgAlaSerSer;Pro1675del;Asp1677_Leu1682delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4862,
          "referenceAllele": "AATGACT",
          "start": 4855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.4750_4756del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Asn1584ProfsTer19",
        "hgvsWellDefined": "NP_001070651.1:p.[Asn1584_Lys1591delinsProValArgThrSerSer;Gly1593_Val1606delinsAlaProSerArgAlaSerSer;Pro1608del;Asp1610_Leu1615delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4994,
          "referenceAllele": "AATGACT",
          "start": 4987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.4882_4888del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Asn1628ProfsTer19",
        "hgvsWellDefined": "NP_001107854.1:p.[Asn1628_Lys1635delinsProValArgThrSerSer;Gly1637_Val1650delinsAlaProSerArgAlaSerSer;Pro1652del;Asp1654_Leu1659delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4915,
          "referenceAllele": "AATGACT",
          "start": 4908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.4822_4828del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Asn1608ProfsTer19",
        "hgvsWellDefined": "XP_005255586.2:p.[Asn1608_Lys1615delinsProValArgThrSerSer;Gly1617_Val1630delinsAlaProSerArgAlaSerSer;Pro1632del;Asp1634_Leu1639delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4846,
          "referenceAllele": "AATGACT",
          "start": 4839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.4753_4759del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Asn1585ProfsTer19",
        "hgvsWellDefined": "XP_005255588.2:p.[Asn1585_Lys1592delinsProValArgThrSerSer;Gly1594_Val1607delinsAlaProSerArgAlaSerSer;Pro1609del;Asp1611_Leu1616delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5098,
          "referenceAllele": "AATGACT",
          "start": 5091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.5005_5011del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Asn1669ProfsTer19",
        "hgvsWellDefined": "XP_011520938.1:p.[Asn1669_Lys1676delinsProValArgThrSerSer;Gly1678_Val1691delinsAlaProSerArgAlaSerSer;Pro1693del;Asp1695_Leu1700delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5095,
          "referenceAllele": "AATGACT",
          "start": 5088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.5002_5008del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Asn1668ProfsTer19",
        "hgvsWellDefined": "XP_011520939.1:p.[Asn1668_Lys1675delinsProValArgThrSerSer;Gly1677_Val1690delinsAlaProSerArgAlaSerSer;Pro1692del;Asp1694_Leu1699delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5059,
          "referenceAllele": "AATGACT",
          "start": 5052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.4894_4900del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Asn1632ProfsTer19",
        "hgvsWellDefined": "XP_011520940.1:p.[Asn1632_Lys1639delinsProValArgThrSerSer;Gly1641_Val1654delinsAlaProSerArgAlaSerSer;Pro1656del;Asp1658_Leu1663delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4969,
          "referenceAllele": "AATGACT",
          "start": 4962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.4876_4882del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Asn1626ProfsTer19",
        "hgvsWellDefined": "XP_011520941.1:p.[Asn1626_Lys1633delinsProValArgThrSerSer;Gly1635_Val1648delinsAlaProSerArgAlaSerSer;Pro1650del;Asp1652_Leu1657delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4966,
          "referenceAllele": "AATGACT",
          "start": 4959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.4873_4879del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Asn1625ProfsTer19",
        "hgvsWellDefined": "XP_011520942.1:p.[Asn1625_Lys1632delinsProValArgThrSerSer;Gly1634_Val1647delinsAlaProSerArgAlaSerSer;Pro1649del;Asp1651_Leu1656delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4807,
          "referenceAllele": "AATGACT",
          "start": 4800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.4642_4648del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Asn1548ProfsTer19",
        "hgvsWellDefined": "XP_011520943.1:p.[Asn1548_Lys1555delinsProValArgThrSerSer;Gly1557_Val1570delinsAlaProSerArgAlaSerSer;Pro1572del;Asp1574_Leu1579delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5157,
          "referenceAllele": "AATGACT",
          "start": 5150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.4951_4957del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Asn1651ProfsTer19",
        "hgvsWellDefined": "NP_000539.2:p.[Asn1651_Lys1658delinsProValArgThrSerSer;Gly1660_Val1673delinsAlaProSerArgAlaSerSer;Pro1675del;Asp1677_Leu1682delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4956,
          "referenceAllele": "AATGACT",
          "start": 4949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.4750_4756del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Asn1584ProfsTer19",
        "hgvsWellDefined": "NP_001070651.1:p.[Asn1584_Lys1591delinsProValArgThrSerSer;Gly1593_Val1606delinsAlaProSerArgAlaSerSer;Pro1608del;Asp1610_Leu1615delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5088,
          "referenceAllele": "AATGACT",
          "start": 5081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.4882_4888del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Asn1628ProfsTer19",
        "hgvsWellDefined": "NP_001107854.1:p.[Asn1628_Lys1635delinsProValArgThrSerSer;Gly1637_Val1650delinsAlaProSerArgAlaSerSer;Pro1652del;Asp1654_Leu1659delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4848,
          "referenceAllele": "AATGACT",
          "start": 4841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.4642_4648del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Asn1548ProfsTer19",
        "hgvsWellDefined": "NP_001305756.1:p.[Asn1548_Lys1555delinsProValArgThrSerSer;Gly1557_Val1570delinsAlaProSerArgAlaSerSer;Pro1572del;Asp1574_Leu1579delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4792,
          "referenceAllele": "AATGACT",
          "start": 4785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.4606_4612del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Asn1536ProfsTer19",
        "hgvsWellDefined": "NP_001305758.1:p.[Asn1536_Lys1543delinsProValArgThrSerSer;Gly1545_Val1558delinsAlaProSerArgAlaSerSer;Pro1560del;Asp1562_Leu1567delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4651,
          "referenceAllele": "AATGACT",
          "start": 4644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.4219_4225del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Asn1407ProfsTer19",
        "hgvsWellDefined": "NP_001305760.1:p.[Asn1407_Lys1414delinsProValArgThrSerSer;Gly1416_Val1429delinsAlaProSerArgAlaSerSer;Pro1431del;Asp1433_Leu1438delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4857,
          "referenceAllele": "AATGACT",
          "start": 4850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.4783_4789del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Asn1595ProfsTer19",
        "hgvsWellDefined": "NP_001305761.1:p.[Asn1595_Lys1602delinsProValArgThrSerSer;Gly1604_Val1617delinsAlaProSerArgAlaSerSer;Pro1619del;Asp1621_Leu1626delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4959,
          "referenceAllele": "AATGACT",
          "start": 4952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.4753_4759del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Asn1585ProfsTer19",
        "hgvsWellDefined": "NP_001350457.1:p.[Asn1585_Lys1592delinsProValArgThrSerSer;Gly1594_Val1607delinsAlaProSerArgAlaSerSer;Pro1609del;Asp1611_Leu1616delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4938,
          "referenceAllele": "AATGACT",
          "start": 4931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.4822_4828del"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Asn1608ProfsTer19",
        "hgvsWellDefined": "NP_066399.2:p.[Asn1608_Lys1615delinsProValArgThrSerSer;Gly1617_Val1630delinsAlaProSerArgAlaSerSer;Pro1632del;Asp1634_Leu1639delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4846,
          "referenceAllele": "AATGACT",
          "start": 4839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.4753_4759del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Asn1585ProfsTer19",
        "hgvsWellDefined": "XP_005255588.2:p.[Asn1585_Lys1592delinsProValArgThrSerSer;Gly1594_Val1607delinsAlaProSerArgAlaSerSer;Pro1609del;Asp1611_Leu1616delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5098,
          "referenceAllele": "AATGACT",
          "start": 5091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.5005_5011del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Asn1669ProfsTer19",
        "hgvsWellDefined": "XP_011520938.1:p.[Asn1669_Lys1676delinsProValArgThrSerSer;Gly1678_Val1691delinsAlaProSerArgAlaSerSer;Pro1693del;Asp1695_Leu1700delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5095,
          "referenceAllele": "AATGACT",
          "start": 5088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.5002_5008del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Asn1668ProfsTer19",
        "hgvsWellDefined": "XP_011520939.1:p.[Asn1668_Lys1675delinsProValArgThrSerSer;Gly1677_Val1690delinsAlaProSerArgAlaSerSer;Pro1692del;Asp1694_Leu1699delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5191,
          "referenceAllele": "AATGACT",
          "start": 5184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.5167_5173del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Asn1723ProfsTer19",
        "hgvsWellDefined": "XP_011520940.2:p.[Asn1723_Lys1730delinsProValArgThrSerSer;Gly1732_Val1745delinsAlaProSerArgAlaSerSer;Pro1747del;Asp1749_Leu1754delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4969,
          "referenceAllele": "AATGACT",
          "start": 4962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.4876_4882del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Asn1626ProfsTer19",
        "hgvsWellDefined": "XP_011520941.1:p.[Asn1626_Lys1633delinsProValArgThrSerSer;Gly1635_Val1648delinsAlaProSerArgAlaSerSer;Pro1650del;Asp1652_Leu1657delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4966,
          "referenceAllele": "AATGACT",
          "start": 4959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.4873_4879del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Asn1625ProfsTer19",
        "hgvsWellDefined": "XP_011520942.1:p.[Asn1625_Lys1632delinsProValArgThrSerSer;Gly1634_Val1647delinsAlaProSerArgAlaSerSer;Pro1649del;Asp1651_Leu1656delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5041,
          "referenceAllele": "AATGACT",
          "start": 5034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.4948_4954del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Asn1650ProfsTer19",
        "hgvsWellDefined": "XP_016879104.1:p.[Asn1650_Lys1657delinsProValArgThrSerSer;Gly1659_Val1672delinsAlaProSerArgAlaSerSer;Pro1674del;Asp1676_Leu1681delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4912,
          "referenceAllele": "AATGACT",
          "start": 4905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.4819_4825del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Asn1607ProfsTer19",
        "hgvsWellDefined": "XP_016879105.1:p.[Asn1607_Lys1614delinsProValArgThrSerSer;Gly1616_Val1629delinsAlaProSerArgAlaSerSer;Pro1631del;Asp1633_Leu1638delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4939,
          "referenceAllele": "AATGACT",
          "start": 4932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.4915_4921del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Asn1639ProfsTer19",
        "hgvsWellDefined": "XP_016879106.1:p.[Asn1639_Lys1646delinsProValArgThrSerSer;Gly1648_Val1661delinsAlaProSerArgAlaSerSer;Pro1663del;Asp1665_Leu1670delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5185,
          "referenceAllele": "AATGACT",
          "start": 5178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.3661_3667del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Asn1221ProfsTer19",
        "hgvsWellDefined": "XP_016879107.1:p.[Asn1221_Lys1228delinsProValArgThrSerSer;Gly1230_Val1243delinsAlaProSerArgAlaSerSer;Pro1245del;Asp1247_Leu1252delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4843,
          "referenceAllele": "AATGACT",
          "start": 4836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.4750_4756del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Asn1584ProfsTer19",
        "hgvsWellDefined": "XP_024306181.1:p.[Asn1584_Lys1591delinsProValArgThrSerSer;Gly1593_Val1606delinsAlaProSerArgAlaSerSer;Pro1608del;Asp1610_Leu1615delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5067,
          "referenceAllele": "AATGACT",
          "start": 5060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.4951_4957del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Asn1651ProfsTer19",
        "hgvsWellDefined": "NP_000539.2:p.[Asn1651_Lys1658delinsProValArgThrSerSer;Gly1660_Val1673delinsAlaProSerArgAlaSerSer;Pro1675del;Asp1677_Leu1682delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4951_4957del"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4951_4957del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Asn1651ProfsTer19"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Asn1651ProfsTer19"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4935,
          "referenceAllele": "AATGACT",
          "start": 4928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.4819_4825del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Asn1607ProfsTer19",
        "hgvsWellDefined": "NP_001357333.1:p.[Asn1607_Lys1614delinsProValArgThrSerSer;Gly1616_Val1629delinsAlaProSerArgAlaSerSer;Pro1631del;Asp1633_Leu1638delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4938,
          "referenceAllele": "AATGACT",
          "start": 4931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.4822_4828del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Asn1608ProfsTer19",
        "hgvsWellDefined": "NP_001357334.1:p.[Asn1608_Lys1615delinsProValArgThrSerSer;Gly1617_Val1630delinsAlaProSerArgAlaSerSer;Pro1632del;Asp1634_Leu1639delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4866,
          "referenceAllele": "AATGACT",
          "start": 4859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.4750_4756del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Asn1584ProfsTer19",
        "hgvsWellDefined": "NP_001070651.1:p.[Asn1584_Lys1591delinsProValArgThrSerSer;Gly1593_Val1606delinsAlaProSerArgAlaSerSer;Pro1608del;Asp1610_Leu1615delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4998,
          "referenceAllele": "AATGACT",
          "start": 4991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.4882_4888del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Asn1628ProfsTer19",
        "hgvsWellDefined": "NP_001107854.1:p.[Asn1628_Lys1635delinsProValArgThrSerSer;Gly1637_Val1650delinsAlaProSerArgAlaSerSer;Pro1652del;Asp1654_Leu1659delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4758,
          "referenceAllele": "AATGACT",
          "start": 4751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.4642_4648del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Asn1548ProfsTer19",
        "hgvsWellDefined": "NP_001305756.1:p.[Asn1548_Lys1555delinsProValArgThrSerSer;Gly1557_Val1570delinsAlaProSerArgAlaSerSer;Pro1572del;Asp1574_Leu1579delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4702,
          "referenceAllele": "AATGACT",
          "start": 4695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.4606_4612del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Asn1536ProfsTer19",
        "hgvsWellDefined": "NP_001305758.1:p.[Asn1536_Lys1543delinsProValArgThrSerSer;Gly1545_Val1558delinsAlaProSerArgAlaSerSer;Pro1560del;Asp1562_Leu1567delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4561,
          "referenceAllele": "AATGACT",
          "start": 4554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.4219_4225del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Asn1407ProfsTer19",
        "hgvsWellDefined": "NP_001305760.1:p.[Asn1407_Lys1414delinsProValArgThrSerSer;Gly1416_Val1429delinsAlaProSerArgAlaSerSer;Pro1431del;Asp1433_Leu1438delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4857,
          "referenceAllele": "AATGACT",
          "start": 4850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.4783_4789del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Asn1595ProfsTer19",
        "hgvsWellDefined": "NP_001305761.1:p.[Asn1595_Lys1602delinsProValArgThrSerSer;Gly1604_Val1617delinsAlaProSerArgAlaSerSer;Pro1619del;Asp1621_Leu1626delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4869,
          "referenceAllele": "AATGACT",
          "start": 4862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.4753_4759del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Asn1585ProfsTer19",
        "hgvsWellDefined": "NP_001350457.1:p.[Asn1585_Lys1592delinsProValArgThrSerSer;Gly1594_Val1607delinsAlaProSerArgAlaSerSer;Pro1609del;Asp1611_Leu1616delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4938,
          "referenceAllele": "AATGACT",
          "start": 4931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.4822_4828del"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Asn1608ProfsTer19",
        "hgvsWellDefined": "NP_066399.2:p.[Asn1608_Lys1615delinsProValArgThrSerSer;Gly1617_Val1630delinsAlaProSerArgAlaSerSer;Pro1632del;Asp1634_Leu1639delinsSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}