{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16615530",
  "communityStandardTitle": [
    "NM_144997.7(FLCN):c.503_518delinsATCAG (p.Arg168HisfsTer28)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=402289[alleleid]",
        "alleleId": 402289,
        "preferredName": "NM_144997.7(FLCN):c.503_518delinsATCAG (p.Arg168fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409385",
        "RCV": [
          "RCV000459716",
          "RCV000492646"
        ],
        "variationId": 409385
      }
    ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064792959",
        "rs": 1064792959
      }
    ]
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      "chromosome": "17",
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        {
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          "start": 17224021
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      ],
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        "CM000679.2:g.17224022_17224037delinsCTGAT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
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      "coordinates": [
        {
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          "referenceAllele": "ATGATGCTGTACCAGC",
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      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
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    },
    {
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      ],
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    }
  ],
  "transcriptAlleles": [
    {
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          "RefSeq": {
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    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253278"
    },
    {
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      "hgvs": [
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        "hgvsWellDefined": "ENSP00000373821.5:p.[Arg168_Met177delinsHisGlnHisHisHisAspGlyPro;Arg179_Tyr181del;Ile183_Phe188delinsProHisGln;Gly191_Arg194delinsAlaLeuProAla;Ile196_Gly202delinsGluGlyProGlyAsnHisArg]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS274164"
    },
    {
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284744"
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    {
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS289728"
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    {
      "coordinates": [
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS320491"
    },
    {
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041134"
    },
    {
      "coordinates": [
        {
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS041289"
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      "referenceSequence": "http://reg.genome.network/refseq/RS090847"
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    {
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS090848"
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090849"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS090850"
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      "referenceSequence": "http://reg.genome.network/refseq/RS090851"
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    {
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS090853"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS090854"
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    {
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    {
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS521572"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS526585"
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      "referenceSequence": "http://reg.genome.network/refseq/RS547137"
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    {
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011522020.1:p.[Arg186_Met195delinsHisGlnHisHisHisAspGlyPro;Arg197_Tyr199del;Ile201_Phe206delinsProHisGln;Gly209_Arg212delinsAlaLeuProAla;Ile214_Gly220delinsGluGlyProGlyAsnHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547138"
    },
    {
      "coordinates": [
        {
          "allele": "ATCAG",
          "end": 1076,
          "referenceAllele": "GCTGGTACAGCATCAT",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523719.3:c.557_572delinsATCAG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522021.1:p.Arg186HisfsTer28",
        "hgvsWellDefined": "XP_011522021.1:p.[Arg186_Met195delinsHisGlnHisHisHisAspGlyPro;Arg197_Tyr199del;Ile201_Phe206delinsProHisGln;Gly209_Arg212delinsAlaLeuProAla;Ile214_Gly220delinsGluGlyProGlyAsnHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547139"
    },
    {
      "coordinates": [
        {
          "allele": "ATCAG",
          "end": 821,
          "referenceAllele": "GCTGGTACAGCATCAT",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523721.3:c.557_572delinsATCAG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522023.1:p.Arg186HisfsTer28",
        "hgvsWellDefined": "XP_011522023.1:p.[Arg186_Met195delinsHisGlnHisHisHisAspGlyPro;Arg197_Tyr199del;Ile201_Phe206delinsProHisGln;Gly209_Arg212delinsAlaLeuProAla;Ile214_Gly220delinsGluGlyProGlyAsnHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547140"
    },
    {
      "coordinates": [
        {
          "allele": "ATCAG",
          "end": 1257,
          "referenceAllele": "GCTGGTACAGCATCAT",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024305.2:c.557_572delinsATCAG"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879794.1:p.Arg186HisfsTer28",
        "hgvsWellDefined": "XP_016879794.1:p.[Arg186_Met195delinsHisGlnHisHisHisAspGlyPro;Arg197_Tyr199del;Ile201_Phe206delinsProHisGln;Gly209_Arg212delinsAlaLeuProAla;Ile214_Gly220delinsGluGlyProGlyAsnHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574895"
    },
    {
      "coordinates": [
        {
          "allele": "ATCAG",
          "end": 1384,
          "referenceAllele": "GCTGGTACAGCATCAT",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024308.1:c.503_518delinsATCAG"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879797.1:p.Arg168HisfsTer28",
        "hgvsWellDefined": "XP_016879797.1:p.[Arg168_Met177delinsHisGlnHisHisHisAspGlyPro;Arg179_Tyr181del;Ile183_Phe188delinsProHisGln;Gly191_Arg194delinsAlaLeuProAla;Ile196_Gly202delinsGluGlyProGlyAsnHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574896"
    },
    {
      "coordinates": [
        {
          "allele": "ATCAG",
          "end": 900,
          "endIntronDirection": "-",
          "endIntronOffset": 1360,
          "referenceAllele": "GCTGGTACAGCATCAT",
          "start": 900,
          "startIntronDirection": "-",
          "startIntronOffset": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024309.2:c.397-1376_397-1361delinsATCAG"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879798.1:n.397-1376_397-1361delinsATCAG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574897"
    },
    {
      "coordinates": [
        {
          "allele": "ATCAG",
          "end": 2266,
          "referenceAllele": "GCTGGTACAGCATCAT",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_024450635.1:c.557_572delinsATCAG"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306403.1:p.Arg186HisfsTer28",
        "hgvsWellDefined": "XP_024306403.1:p.[Arg186_Met195delinsHisGlnHisHisHisAspGlyPro;Arg197_Tyr199del;Ile201_Phe206delinsProHisGln;Gly209_Arg212delinsAlaLeuProAla;Ile214_Gly220delinsGluGlyProGlyAsnHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584169"
    },
    {
      "coordinates": [
        {
          "allele": "ATCAG",
          "end": 1076,
          "referenceAllele": "GCTGGTACAGCATCAT",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XR_001752445.2:n.1061_1076delinsATCAG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599146"
    },
    {
      "coordinates": [
        {
          "allele": "ATCAG",
          "end": 1002,
          "referenceAllele": "GCTGGTACAGCATCAT",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.7:c.503_518delinsATCAG"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Arg168HisfsTer28",
        "hgvsWellDefined": "NP_659434.2:p.[Arg168_Met177delinsHisGlnHisHisHisAspGlyPro;Arg179_Tyr181del;Ile183_Phe188delinsProHisGln;Gly191_Arg194delinsAlaLeuProAla;Ile196_Gly202delinsGluGlyProGlyAsnHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285071.9:c.503_518delinsATCAG"
          },
          "RefSeq": {
            "hgvs": "NM_144997.7:c.503_518delinsATCAG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285071.4:p.Arg168HisfsTer28"
          },
          "RefSeq": {
            "hgvs": "NP_659434.2:p.Arg168HisfsTer28"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "ATCAG",
          "end": 1264,
          "referenceAllele": "GCTGGTACAGCATCAT",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353229.2:c.557_572delinsATCAG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340158.1:p.Arg186HisfsTer28",
        "hgvsWellDefined": "NP_001340158.1:p.[Arg186_Met195delinsHisGlnHisHisHisAspGlyPro;Arg197_Tyr199del;Ile201_Phe206delinsProHisGln;Gly209_Arg212delinsAlaLeuProAla;Ile214_Gly220delinsGluGlyProGlyAsnHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689657"
    },
    {
      "coordinates": [
        {
          "allele": "ATCAG",
          "end": 1285,
          "referenceAllele": "GCTGGTACAGCATCAT",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.2:c.503_518delinsATCAG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340159.1:p.Arg168HisfsTer28",
        "hgvsWellDefined": "NP_001340159.1:p.[Arg168_Met177delinsHisGlnHisHisHisAspGlyPro;Arg179_Tyr181del;Ile183_Phe188delinsProHisGln;Gly191_Arg194delinsAlaLeuProAla;Ile196_Gly202delinsGluGlyProGlyAsnHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689658"
    },
    {
      "coordinates": [
        {
          "allele": "ATCAG",
          "end": 1201,
          "referenceAllele": "GCTGGTACAGCATCAT",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.2:c.503_518delinsATCAG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:p.Arg168HisfsTer28",
        "hgvsWellDefined": "NP_001340160.1:p.[Arg168_Met177delinsHisGlnHisHisHisAspGlyPro;Arg179_Tyr181del;Ile183_Phe188delinsProHisGln;Gly191_Arg194delinsAlaLeuProAla;Ile196_Gly202delinsGluGlyProGlyAsnHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689659"
    },
    {
      "coordinates": [
        {
          "allele": "ATCAG",
          "end": 1002,
          "referenceAllele": "GCTGGTACAGCATCAT",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.7:c.503_518delinsATCAG"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Arg168HisfsTer28",
        "hgvsWellDefined": "NP_653207.1:p.[Arg168_Met177delinsHisGlnHisHisHisAspGlyPro;Arg179_Tyr181del;Ile183_Phe188delinsProHisGln;Gly191_Arg194delinsAlaLeuProAla;Ile196_Gly202delinsGluGlyProGlyAsnHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699908"
    }
  ],
  "type": "nucleotide"
}