{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16614837",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.5281_5296del (p.Ser1761LeufsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=401041[alleleid]",
        "alleleId": 401041,
        "preferredName": "NM_000548.5(TSC2):c.5281_5296del (p.Ser1761fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/406134",
        "RCV": [
          "RCV000464189"
        ],
        "variationId": 406134
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2138468_2138483del?assembly=hg19",
        "id": "chr16:g.2138468_2138483del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2088467_2088482del?assembly=hg38",
        "id": "chr16:g.2088467_2088482del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064792923",
        "rs": 1064792923
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 2088482,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 2088466
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2088467_2088482del",
        "CM000678.2:g.2088467_2088482del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 2138483,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 2138467
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2138468_2138483del",
        "CM000678.1:g.2138468_2138483del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 2078484,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 2078468
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2078469_2078484del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 44177,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 44161
        }
      ],
      "hgvs": [
        "NG_005895.1:g.44162_44177del",
        "LRG_487:g.44162_44177del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 54760,
          "referenceAllele": "TGGAGTAGGCTGGGGT",
          "start": 54744
        }
      ],
      "hgvs": [
        "NG_008617.1:g.54745_54760del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001129"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5127,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*3630_*3645del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*3630_*3645del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5259,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.5128_5143del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Ser1710LeufsTer?",
        "hgvsWellDefined": "ENSP00000495146.2:p.[Ser1710_Ser1713delinsLeuTrpCysThr;Pro1715_Pro1719delinsArgProIleAlaLys;Ser1721Leu;Ser1723_Ala1725delinsArgLeuGln;Ala1727_Pro1730delinsSerProHisLeu;Glu1732_Val1739delinsMetArgTrpAlaSer;Gln1741_Arg1744delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5364,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.5278_5293del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Ser1760LeufsTer?",
        "hgvsWellDefined": "ENSP00000495459.2:p.[Ser1760_Ser1763delinsLeuTrpCysThr;Pro1765_Pro1769delinsArgProIleAlaLys;Ser1771Leu;Ser1773_Ala1775delinsArgLeuGln;Ala1777_Pro1780delinsSerProHisLeu;Glu1782_Val1789delinsMetArgTrpAlaSer;Gln1791_Arg1794delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6464,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 6448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*5794_*5809del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*5794_*5809del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8383,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 8367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*8030_*8045del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*8030_*8045del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5406,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.5281_5296del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Ser1761LeufsTer?",
        "hgvsWellDefined": "ENSP00000219476.3:p.[Ser1761_Ser1764delinsLeuTrpCysThr;Pro1766_Pro1770delinsArgProIleAlaLys;Ser1772Leu;Ser1774_Ala1776delinsArgLeuGln;Ala1778_Pro1781delinsSerProHisLeu;Glu1783_Val1790delinsMetArgTrpAlaSer;Gln1792_Arg1795delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.5281_5296del"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.5281_5296del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Ser1761LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Ser1761LeufsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5302,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.5212_5227del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Ser1738LeufsTer?",
        "hgvsWellDefined": "ENSP00000344383.4:p.[Ser1738_Ser1741delinsLeuTrpCysThr;Pro1743_Pro1747delinsArgProIleAlaLys;Ser1749Leu;Ser1751_Ala1753delinsArgLeuGln;Ala1755_Pro1758delinsSerProHisLeu;Glu1760_Val1767delinsMetArgTrpAlaSer;Gln1769_Arg1772delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5201,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.5080_5095del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Ser1694LeufsTer?",
        "hgvsWellDefined": "ENSP00000384468.2:p.[Ser1694_Ser1697delinsLeuTrpCysThr;Pro1699_Pro1703delinsArgProIleAlaLys;Ser1705Leu;Ser1707_Ala1709delinsArgLeuGln;Ala1711_Pro1714delinsSerProHisLeu;Glu1716_Val1723delinsMetArgTrpAlaSer;Gln1725_Arg1728delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5196,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.5113_5128del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Ser1705LeufsTer?",
        "hgvsWellDefined": "ENSP00000454487.1:p.[Ser1705_Ser1708delinsLeuTrpCysThr;Pro1710_Pro1714delinsArgProIleAlaLys;Ser1716Leu;Ser1718_Ala1720delinsArgLeuGln;Ala1722_Pro1725delinsSerProHisLeu;Glu1727_Val1734delinsMetArgTrpAlaSer;Gln1736_Arg1739delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1519,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.2:c.1504_1519del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760583"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3178,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 3162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.2:n.3163_3178del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760618"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3950,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 3934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.3935_3950del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5207,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.5140_5155del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Ser1714LeufsTer?",
        "hgvsWellDefined": "ENSP00000495099.1:p.[Ser1714_Ser1717delinsLeuTrpCysThr;Pro1719_Pro1723delinsArgProIleAlaLys;Ser1725Leu;Ser1727_Ala1729delinsArgLeuGln;Ala1731_Pro1734delinsSerProHisLeu;Glu1736_Val1743delinsMetArgTrpAlaSer;Gln1745_Arg1748delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 893,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642791.1:n.878_893del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766926"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5152,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.5083_5098del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Ser1695LeufsTer?",
        "hgvsWellDefined": "ENSP00000493846.1:p.[Ser1695_Ser1698delinsLeuTrpCysThr;Pro1700_Pro1704delinsArgProIleAlaLys;Ser1706Leu;Ser1708_Ala1710delinsArgLeuGln;Ala1712_Pro1715delinsSerProHisLeu;Glu1717_Val1724delinsMetArgTrpAlaSer;Gln1726_Arg1729delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5273,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.5149_5164del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Ser1717LeufsTer?",
        "hgvsWellDefined": "ENSP00000494514.1:p.[Ser1717_Ser1720delinsLeuTrpCysThr;Pro1722_Pro1726delinsArgProIleAlaLys;Ser1728Leu;Ser1730_Ala1732delinsArgLeuGln;Ala1734_Pro1737delinsSerProHisLeu;Glu1739_Val1746delinsMetArgTrpAlaSer;Gln1748_Arg1751delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5207,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.5074_5089del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Ser1692LeufsTer?",
        "hgvsWellDefined": "ENSP00000494747.1:p.[Ser1692_Ser1695delinsLeuTrpCysThr;Pro1697_Pro1701delinsArgProIleAlaLys;Ser1703Leu;Ser1705_Ala1707delinsArgLeuGln;Ala1709_Pro1712delinsSerProHisLeu;Glu1714_Val1721delinsMetArgTrpAlaSer;Gln1723_Arg1726delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2944,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 2928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643426.1:n.2929_2944del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767277"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5339,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.5206_5221del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Ser1736LeufsTer?",
        "hgvsWellDefined": "ENSP00000495927.1:p.[Ser1736_Ser1739delinsLeuTrpCysThr;Pro1741_Pro1745delinsArgProIleAlaLys;Ser1747Leu;Ser1749_Ala1751delinsArgLeuGln;Ala1753_Pro1756delinsSerProHisLeu;Glu1758_Val1765delinsMetArgTrpAlaSer;Gln1767_Arg1770delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5221,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.5152_5167del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Ser1718LeufsTer?",
        "hgvsWellDefined": "ENSP00000496262.1:p.[Ser1718_Ser1721delinsLeuTrpCysThr;Pro1723_Pro1727delinsArgProIleAlaLys;Ser1729Leu;Ser1731_Ala1733delinsArgLeuGln;Ala1735_Pro1738delinsSerProHisLeu;Glu1740_Val1747delinsMetArgTrpAlaSer;Gln1749_Arg1752delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5244,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.5167_5182del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Ser1723LeufsTer?",
        "hgvsWellDefined": "ENSP00000496611.1:p.[Ser1723_Ser1726delinsLeuTrpCysThr;Pro1728_Pro1732delinsArgProIleAlaLys;Ser1734Leu;Ser1736_Ala1738delinsArgLeuGln;Ala1740_Pro1743delinsSerProHisLeu;Glu1745_Val1752delinsMetArgTrpAlaSer;Gln1754_Arg1757delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5192,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.5077_5092del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Ser1693LeufsTer?",
        "hgvsWellDefined": "ENSP00000496317.1:p.[Ser1693_Ser1696delinsLeuTrpCysThr;Pro1698_Pro1702delinsArgProIleAlaLys;Ser1704Leu;Ser1706_Ala1708delinsArgLeuGln;Ala1710_Pro1713delinsSerProHisLeu;Glu1715_Val1722delinsMetArgTrpAlaSer;Gln1724_Arg1727delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5217,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.5202_5217del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3380,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 3364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.3365_3380del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5376,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.5275_5290del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Ser1759LeufsTer?",
        "hgvsWellDefined": "ENSP00000495921.1:p.[Ser1759_Ser1762delinsLeuTrpCysThr;Pro1764_Pro1768delinsArgProIleAlaLys;Ser1770Leu;Ser1772_Ala1774delinsArgLeuGln;Ala1776_Pro1779delinsSerProHisLeu;Glu1781_Val1788delinsMetArgTrpAlaSer;Gln1790_Arg1793delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4111,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 4095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.4096_4111del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2548,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 2532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646674.1:n.2533_2548del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2519,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 2503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647042.1:n.2504_2519del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769203"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2409,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 2393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647180.1:n.2394_2409del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769277"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5926,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.5281_5296del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Ser1761LeufsTer?",
        "hgvsWellDefined": "ENSP00000219476.3:p.[Ser1761_Ser1764delinsLeuTrpCysThr;Pro1766_Pro1770delinsArgProIleAlaLys;Ser1772Leu;Ser1774_Ala1776delinsArgLeuGln;Ala1778_Pro1781delinsSerProHisLeu;Glu1783_Val1790delinsMetArgTrpAlaSer;Gln1792_Arg1795delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5302,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.5212_5227del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Ser1738LeufsTer?",
        "hgvsWellDefined": "ENSP00000344383.4:p.[Ser1738_Ser1741delinsLeuTrpCysThr;Pro1743_Pro1747delinsArgProIleAlaLys;Ser1749Leu;Ser1751_Ala1753delinsArgLeuGln;Ala1755_Pro1758delinsSerProHisLeu;Glu1760_Val1767delinsMetArgTrpAlaSer;Gln1769_Arg1772delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5046,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.4936_4951del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Ser1646LeufsTer?",
        "hgvsWellDefined": "ENSP00000371978.6:p.[Ser1646_Ser1649delinsLeuTrpCysThr;Pro1651_Pro1655delinsArgProIleAlaLys;Ser1657Leu;Ser1659_Ala1661delinsArgLeuGln;Ala1663_Pro1666delinsSerProHisLeu;Glu1668_Val1675delinsMetArgTrpAlaSer;Gln1677_Arg1680delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5201,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.5080_5095del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Ser1694LeufsTer?",
        "hgvsWellDefined": "ENSP00000384468.2:p.[Ser1694_Ser1697delinsLeuTrpCysThr;Pro1699_Pro1703delinsArgProIleAlaLys;Ser1705Leu;Ser1707_Ala1709delinsArgLeuGln;Ala1711_Pro1714delinsSerProHisLeu;Glu1716_Val1723delinsMetArgTrpAlaSer;Gln1725_Arg1728delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4852,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 4836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*4448_*4463del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*4448_*4463del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5068,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.4972_4987del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Ser1658LeufsTer?",
        "hgvsWellDefined": "ENSP00000399232.2:p.[Ser1658_Ser1661delinsLeuTrpCysThr;Pro1663_Pro1667delinsArgProIleAlaLys;Ser1669Leu;Ser1671_Ala1673delinsArgLeuGln;Ala1675_Pro1678delinsSerProHisLeu;Glu1680_Val1687delinsMetArgTrpAlaSer;Gln1689_Arg1692delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3019,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 3003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000497886.5:n.3004_3019del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334013"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5196,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.5113_5128del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Ser1705LeufsTer?",
        "hgvsWellDefined": "ENSP00000454487.1:p.[Ser1705_Ser1708delinsLeuTrpCysThr;Pro1710_Pro1714delinsArgProIleAlaLys;Ser1716Leu;Ser1718_Ala1720delinsArgLeuGln;Ala1722_Pro1725delinsSerProHisLeu;Glu1727_Val1734delinsMetArgTrpAlaSer;Gln1736_Arg1739delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1478,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.1:c.1463_1478del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246736"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2411,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 2395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.1:n.2396_2411del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381794"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5402,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.5281_5296del",
        "LRG_487t1:c.5281_5296del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Ser1761LeufsTer?",
        "hgvsWellDefined": "NP_000539.2:p.[Ser1761_Ser1764delinsLeuTrpCysThr;Pro1766_Pro1770delinsArgProIleAlaLys;Ser1772Leu;Ser1774_Ala1776delinsArgLeuGln;Ala1778_Pro1781delinsSerProHisLeu;Glu1783_Val1790delinsMetArgTrpAlaSer;Gln1792_Arg1795delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5201,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.5080_5095del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Ser1694LeufsTer?",
        "hgvsWellDefined": "NP_001070651.1:p.[Ser1694_Ser1697delinsLeuTrpCysThr;Pro1699_Pro1703delinsArgProIleAlaLys;Ser1705Leu;Ser1707_Ala1709delinsArgLeuGln;Ala1711_Pro1714delinsSerProHisLeu;Glu1716_Val1723delinsMetArgTrpAlaSer;Gln1725_Arg1728delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5333,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.5212_5227del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Ser1738LeufsTer?",
        "hgvsWellDefined": "NP_001107854.1:p.[Ser1738_Ser1741delinsLeuTrpCysThr;Pro1743_Pro1747delinsArgProIleAlaLys;Ser1749Leu;Ser1751_Ala1753delinsArgLeuGln;Ala1755_Pro1758delinsSerProHisLeu;Glu1760_Val1767delinsMetArgTrpAlaSer;Gln1769_Arg1772delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5254,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.5152_5167del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Ser1718LeufsTer?",
        "hgvsWellDefined": "XP_005255586.2:p.[Ser1718_Ser1721delinsLeuTrpCysThr;Pro1723_Pro1727delinsArgProIleAlaLys;Ser1729Leu;Ser1731_Ala1733delinsArgLeuGln;Ala1735_Pro1738delinsSerProHisLeu;Glu1740_Val1747delinsMetArgTrpAlaSer;Gln1749_Arg1752delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5185,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.5083_5098del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Ser1695LeufsTer?",
        "hgvsWellDefined": "XP_005255588.2:p.[Ser1695_Ser1698delinsLeuTrpCysThr;Pro1700_Pro1704delinsArgProIleAlaLys;Ser1706Leu;Ser1708_Ala1710delinsArgLeuGln;Ala1712_Pro1715delinsSerProHisLeu;Glu1717_Val1724delinsMetArgTrpAlaSer;Gln1726_Arg1729delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5437,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.5335_5350del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Ser1779LeufsTer?",
        "hgvsWellDefined": "XP_011520938.1:p.[Ser1779_Ser1782delinsLeuTrpCysThr;Pro1784_Pro1788delinsArgProIleAlaLys;Ser1790Leu;Ser1792_Ala1794delinsArgLeuGln;Ala1796_Pro1799delinsSerProHisLeu;Glu1801_Val1808delinsMetArgTrpAlaSer;Gln1810_Arg1813delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5434,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.5332_5347del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Ser1778LeufsTer?",
        "hgvsWellDefined": "XP_011520939.1:p.[Ser1778_Ser1781delinsLeuTrpCysThr;Pro1783_Pro1787delinsArgProIleAlaLys;Ser1789Leu;Ser1791_Ala1793delinsArgLeuGln;Ala1795_Pro1798delinsSerProHisLeu;Glu1800_Val1807delinsMetArgTrpAlaSer;Gln1809_Arg1812delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5398,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.5224_5239del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Ser1742LeufsTer?",
        "hgvsWellDefined": "XP_011520940.1:p.[Ser1742_Ser1745delinsLeuTrpCysThr;Pro1747_Pro1751delinsArgProIleAlaLys;Ser1753Leu;Ser1755_Ala1757delinsArgLeuGln;Ala1759_Pro1762delinsSerProHisLeu;Glu1764_Val1771delinsMetArgTrpAlaSer;Gln1773_Arg1776delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5308,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.5206_5221del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Ser1736LeufsTer?",
        "hgvsWellDefined": "XP_011520941.1:p.[Ser1736_Ser1739delinsLeuTrpCysThr;Pro1741_Pro1745delinsArgProIleAlaLys;Ser1747Leu;Ser1749_Ala1751delinsArgLeuGln;Ala1753_Pro1756delinsSerProHisLeu;Glu1758_Val1765delinsMetArgTrpAlaSer;Gln1767_Arg1770delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5305,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.5203_5218del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Ser1735LeufsTer?",
        "hgvsWellDefined": "XP_011520942.1:p.[Ser1735_Ser1738delinsLeuTrpCysThr;Pro1740_Pro1744delinsArgProIleAlaLys;Ser1746Leu;Ser1748_Ala1750delinsArgLeuGln;Ala1752_Pro1755delinsSerProHisLeu;Glu1757_Val1764delinsMetArgTrpAlaSer;Gln1766_Arg1769delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5146,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.4972_4987del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Ser1658LeufsTer?",
        "hgvsWellDefined": "XP_011520943.1:p.[Ser1658_Ser1661delinsLeuTrpCysThr;Pro1663_Pro1667delinsArgProIleAlaLys;Ser1669Leu;Ser1671_Ala1673delinsArgLeuGln;Ala1675_Pro1678delinsSerProHisLeu;Glu1680_Val1687delinsMetArgTrpAlaSer;Gln1689_Arg1692delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5496,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.5281_5296del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Ser1761LeufsTer?",
        "hgvsWellDefined": "NP_000539.2:p.[Ser1761_Ser1764delinsLeuTrpCysThr;Pro1766_Pro1770delinsArgProIleAlaLys;Ser1772Leu;Ser1774_Ala1776delinsArgLeuGln;Ala1778_Pro1781delinsSerProHisLeu;Glu1783_Val1790delinsMetArgTrpAlaSer;Gln1792_Arg1795delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5295,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.5080_5095del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Ser1694LeufsTer?",
        "hgvsWellDefined": "NP_001070651.1:p.[Ser1694_Ser1697delinsLeuTrpCysThr;Pro1699_Pro1703delinsArgProIleAlaLys;Ser1705Leu;Ser1707_Ala1709delinsArgLeuGln;Ala1711_Pro1714delinsSerProHisLeu;Glu1716_Val1723delinsMetArgTrpAlaSer;Gln1725_Arg1728delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5427,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.5212_5227del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Ser1738LeufsTer?",
        "hgvsWellDefined": "NP_001107854.1:p.[Ser1738_Ser1741delinsLeuTrpCysThr;Pro1743_Pro1747delinsArgProIleAlaLys;Ser1749Leu;Ser1751_Ala1753delinsArgLeuGln;Ala1755_Pro1758delinsSerProHisLeu;Glu1760_Val1767delinsMetArgTrpAlaSer;Gln1769_Arg1772delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5187,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.4972_4987del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Ser1658LeufsTer?",
        "hgvsWellDefined": "NP_001305756.1:p.[Ser1658_Ser1661delinsLeuTrpCysThr;Pro1663_Pro1667delinsArgProIleAlaLys;Ser1669Leu;Ser1671_Ala1673delinsArgLeuGln;Ala1675_Pro1678delinsSerProHisLeu;Glu1680_Val1687delinsMetArgTrpAlaSer;Gln1689_Arg1692delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5131,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.4936_4951del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Ser1646LeufsTer?",
        "hgvsWellDefined": "NP_001305758.1:p.[Ser1646_Ser1649delinsLeuTrpCysThr;Pro1651_Pro1655delinsArgProIleAlaLys;Ser1657Leu;Ser1659_Ala1661delinsArgLeuGln;Ala1663_Pro1666delinsSerProHisLeu;Glu1668_Val1675delinsMetArgTrpAlaSer;Gln1677_Arg1680delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4990,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 4974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.4549_4564del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Ser1517LeufsTer?",
        "hgvsWellDefined": "NP_001305760.1:p.[Ser1517_Ser1520delinsLeuTrpCysThr;Pro1522_Pro1526delinsArgProIleAlaLys;Ser1528Leu;Ser1530_Ala1532delinsArgLeuGln;Ala1534_Pro1537delinsSerProHisLeu;Glu1539_Val1546delinsMetArgTrpAlaSer;Gln1548_Arg1551delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5196,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.5113_5128del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Ser1705LeufsTer?",
        "hgvsWellDefined": "NP_001305761.1:p.[Ser1705_Ser1708delinsLeuTrpCysThr;Pro1710_Pro1714delinsArgProIleAlaLys;Ser1716Leu;Ser1718_Ala1720delinsArgLeuGln;Ala1722_Pro1725delinsSerProHisLeu;Glu1727_Val1734delinsMetArgTrpAlaSer;Gln1736_Arg1739delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5298,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.5083_5098del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Ser1695LeufsTer?",
        "hgvsWellDefined": "NP_001350457.1:p.[Ser1695_Ser1698delinsLeuTrpCysThr;Pro1700_Pro1704delinsArgProIleAlaLys;Ser1706Leu;Ser1708_Ala1710delinsArgLeuGln;Ala1712_Pro1715delinsSerProHisLeu;Glu1717_Val1724delinsMetArgTrpAlaSer;Gln1726_Arg1729delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5277,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.5152_5167del"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Ser1718LeufsTer?",
        "hgvsWellDefined": "NP_066399.2:p.[Ser1718_Ser1721delinsLeuTrpCysThr;Pro1723_Pro1727delinsArgProIleAlaLys;Ser1729Leu;Ser1731_Ala1733delinsArgLeuGln;Ala1735_Pro1738delinsSerProHisLeu;Glu1740_Val1747delinsMetArgTrpAlaSer;Gln1749_Arg1752delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5185,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.5083_5098del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Ser1695LeufsTer?",
        "hgvsWellDefined": "XP_005255588.2:p.[Ser1695_Ser1698delinsLeuTrpCysThr;Pro1700_Pro1704delinsArgProIleAlaLys;Ser1706Leu;Ser1708_Ala1710delinsArgLeuGln;Ala1712_Pro1715delinsSerProHisLeu;Glu1717_Val1724delinsMetArgTrpAlaSer;Gln1726_Arg1729delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5437,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.5335_5350del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Ser1779LeufsTer?",
        "hgvsWellDefined": "XP_011520938.1:p.[Ser1779_Ser1782delinsLeuTrpCysThr;Pro1784_Pro1788delinsArgProIleAlaLys;Ser1790Leu;Ser1792_Ala1794delinsArgLeuGln;Ala1796_Pro1799delinsSerProHisLeu;Glu1801_Val1808delinsMetArgTrpAlaSer;Gln1810_Arg1813delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5434,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.5332_5347del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Ser1778LeufsTer?",
        "hgvsWellDefined": "XP_011520939.1:p.[Ser1778_Ser1781delinsLeuTrpCysThr;Pro1783_Pro1787delinsArgProIleAlaLys;Ser1789Leu;Ser1791_Ala1793delinsArgLeuGln;Ala1795_Pro1798delinsSerProHisLeu;Glu1800_Val1807delinsMetArgTrpAlaSer;Gln1809_Arg1812delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5530,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.5497_5512del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Ser1833LeufsTer?",
        "hgvsWellDefined": "XP_011520940.2:p.[Ser1833_Ser1836delinsLeuTrpCysThr;Pro1838_Pro1842delinsArgProIleAlaLys;Ser1844Leu;Ser1846_Ala1848delinsArgLeuGln;Ala1850_Pro1853delinsSerProHisLeu;Glu1855_Val1862delinsMetArgTrpAlaSer;Gln1864_Arg1867delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5308,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.5206_5221del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Ser1736LeufsTer?",
        "hgvsWellDefined": "XP_011520941.1:p.[Ser1736_Ser1739delinsLeuTrpCysThr;Pro1741_Pro1745delinsArgProIleAlaLys;Ser1747Leu;Ser1749_Ala1751delinsArgLeuGln;Ala1753_Pro1756delinsSerProHisLeu;Glu1758_Val1765delinsMetArgTrpAlaSer;Gln1767_Arg1770delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5305,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.5203_5218del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Ser1735LeufsTer?",
        "hgvsWellDefined": "XP_011520942.1:p.[Ser1735_Ser1738delinsLeuTrpCysThr;Pro1740_Pro1744delinsArgProIleAlaLys;Ser1746Leu;Ser1748_Ala1750delinsArgLeuGln;Ala1752_Pro1755delinsSerProHisLeu;Glu1757_Val1764delinsMetArgTrpAlaSer;Gln1766_Arg1769delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5380,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.5278_5293del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Ser1760LeufsTer?",
        "hgvsWellDefined": "XP_016879104.1:p.[Ser1760_Ser1763delinsLeuTrpCysThr;Pro1765_Pro1769delinsArgProIleAlaLys;Ser1771Leu;Ser1773_Ala1775delinsArgLeuGln;Ala1777_Pro1780delinsSerProHisLeu;Glu1782_Val1789delinsMetArgTrpAlaSer;Gln1791_Arg1794delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5251,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.5149_5164del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Ser1717LeufsTer?",
        "hgvsWellDefined": "XP_016879105.1:p.[Ser1717_Ser1720delinsLeuTrpCysThr;Pro1722_Pro1726delinsArgProIleAlaLys;Ser1728Leu;Ser1730_Ala1732delinsArgLeuGln;Ala1734_Pro1737delinsSerProHisLeu;Glu1739_Val1746delinsMetArgTrpAlaSer;Gln1748_Arg1751delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5278,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.5245_5260del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Ser1749LeufsTer?",
        "hgvsWellDefined": "XP_016879106.1:p.[Ser1749_Ser1752delinsLeuTrpCysThr;Pro1754_Pro1758delinsArgProIleAlaLys;Ser1760Leu;Ser1762_Ala1764delinsArgLeuGln;Ala1766_Pro1769delinsSerProHisLeu;Glu1771_Val1778delinsMetArgTrpAlaSer;Gln1780_Arg1783delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5524,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.3991_4006del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Ser1331LeufsTer?",
        "hgvsWellDefined": "XP_016879107.1:p.[Ser1331_Ser1334delinsLeuTrpCysThr;Pro1336_Pro1340delinsArgProIleAlaLys;Ser1342Leu;Ser1344_Ala1346delinsArgLeuGln;Ala1348_Pro1351delinsSerProHisLeu;Glu1353_Val1360delinsMetArgTrpAlaSer;Gln1362_Arg1365delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5269,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.5167_5182del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Ser1723LeufsTer?",
        "hgvsWellDefined": "XP_024306181.1:p.[Ser1723_Ser1726delinsLeuTrpCysThr;Pro1728_Pro1732delinsArgProIleAlaLys;Ser1734Leu;Ser1736_Ala1738delinsArgLeuGln;Ala1740_Pro1743delinsSerProHisLeu;Glu1745_Val1752delinsMetArgTrpAlaSer;Gln1754_Arg1757delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5406,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.5281_5296del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Ser1761LeufsTer?",
        "hgvsWellDefined": "NP_000539.2:p.[Ser1761_Ser1764delinsLeuTrpCysThr;Pro1766_Pro1770delinsArgProIleAlaLys;Ser1772Leu;Ser1774_Ala1776delinsArgLeuGln;Ala1778_Pro1781delinsSerProHisLeu;Glu1783_Val1790delinsMetArgTrpAlaSer;Gln1792_Arg1795delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.5281_5296del"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.5281_5296del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Ser1761LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Ser1761LeufsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5274,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.5149_5164del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Ser1717LeufsTer?",
        "hgvsWellDefined": "NP_001357333.1:p.[Ser1717_Ser1720delinsLeuTrpCysThr;Pro1722_Pro1726delinsArgProIleAlaLys;Ser1728Leu;Ser1730_Ala1732delinsArgLeuGln;Ala1734_Pro1737delinsSerProHisLeu;Glu1739_Val1746delinsMetArgTrpAlaSer;Gln1748_Arg1751delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5265,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.5140_5155del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Ser1714LeufsTer?",
        "hgvsWellDefined": "NP_001357334.1:p.[Ser1714_Ser1717delinsLeuTrpCysThr;Pro1719_Pro1723delinsArgProIleAlaLys;Ser1725Leu;Ser1727_Ala1729delinsArgLeuGln;Ala1731_Pro1734delinsSerProHisLeu;Glu1736_Val1743delinsMetArgTrpAlaSer;Gln1745_Arg1748delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5205,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.5080_5095del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Ser1694LeufsTer?",
        "hgvsWellDefined": "NP_001070651.1:p.[Ser1694_Ser1697delinsLeuTrpCysThr;Pro1699_Pro1703delinsArgProIleAlaLys;Ser1705Leu;Ser1707_Ala1709delinsArgLeuGln;Ala1711_Pro1714delinsSerProHisLeu;Glu1716_Val1723delinsMetArgTrpAlaSer;Gln1725_Arg1728delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5337,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.5212_5227del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Ser1738LeufsTer?",
        "hgvsWellDefined": "NP_001107854.1:p.[Ser1738_Ser1741delinsLeuTrpCysThr;Pro1743_Pro1747delinsArgProIleAlaLys;Ser1749Leu;Ser1751_Ala1753delinsArgLeuGln;Ala1755_Pro1758delinsSerProHisLeu;Glu1760_Val1767delinsMetArgTrpAlaSer;Gln1769_Arg1772delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5097,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.4972_4987del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Ser1658LeufsTer?",
        "hgvsWellDefined": "NP_001305756.1:p.[Ser1658_Ser1661delinsLeuTrpCysThr;Pro1663_Pro1667delinsArgProIleAlaLys;Ser1669Leu;Ser1671_Ala1673delinsArgLeuGln;Ala1675_Pro1678delinsSerProHisLeu;Glu1680_Val1687delinsMetArgTrpAlaSer;Gln1689_Arg1692delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5041,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.4936_4951del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Ser1646LeufsTer?",
        "hgvsWellDefined": "NP_001305758.1:p.[Ser1646_Ser1649delinsLeuTrpCysThr;Pro1651_Pro1655delinsArgProIleAlaLys;Ser1657Leu;Ser1659_Ala1661delinsArgLeuGln;Ala1663_Pro1666delinsSerProHisLeu;Glu1668_Val1675delinsMetArgTrpAlaSer;Gln1677_Arg1680delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4900,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 4884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.4549_4564del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Ser1517LeufsTer?",
        "hgvsWellDefined": "NP_001305760.1:p.[Ser1517_Ser1520delinsLeuTrpCysThr;Pro1522_Pro1526delinsArgProIleAlaLys;Ser1528Leu;Ser1530_Ala1532delinsArgLeuGln;Ala1534_Pro1537delinsSerProHisLeu;Glu1539_Val1546delinsMetArgTrpAlaSer;Gln1548_Arg1551delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5196,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.5113_5128del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Ser1705LeufsTer?",
        "hgvsWellDefined": "NP_001305761.1:p.[Ser1705_Ser1708delinsLeuTrpCysThr;Pro1710_Pro1714delinsArgProIleAlaLys;Ser1716Leu;Ser1718_Ala1720delinsArgLeuGln;Ala1722_Pro1725delinsSerProHisLeu;Glu1727_Val1734delinsMetArgTrpAlaSer;Gln1736_Arg1739delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5208,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.5083_5098del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Ser1695LeufsTer?",
        "hgvsWellDefined": "NP_001350457.1:p.[Ser1695_Ser1698delinsLeuTrpCysThr;Pro1700_Pro1704delinsArgProIleAlaLys;Ser1706Leu;Ser1708_Ala1710delinsArgLeuGln;Ala1712_Pro1715delinsSerProHisLeu;Glu1717_Val1724delinsMetArgTrpAlaSer;Gln1726_Arg1729delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5277,
          "referenceAllele": "TCCAACCCCAGCCTAC",
          "start": 5261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.5152_5167del"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Ser1718LeufsTer?",
        "hgvsWellDefined": "NP_066399.2:p.[Ser1718_Ser1721delinsLeuTrpCysThr;Pro1723_Pro1727delinsArgProIleAlaLys;Ser1729Leu;Ser1731_Ala1733delinsArgLeuGln;Ala1735_Pro1738delinsSerProHisLeu;Glu1740_Val1747delinsMetArgTrpAlaSer;Gln1749_Arg1752delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}