{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA273584",
  "communityStandardTitle": [
    "NM_144997.7(FLCN):c.446del (p.Gly149AlafsTer28)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=175931[alleleid]",
        "alleleId": 175931,
        "preferredName": "NM_144997.7(FLCN):c.446del (p.Gly149fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/179123",
        "RCV": [
          "RCV000155908"
        ],
        "variationId": 179123
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.17127408del?assembly=hg19",
        "id": "chr17:g.17127408del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.17224094del?assembly=hg38",
        "id": "chr17:g.17224094del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/727504645",
        "rs": 727504645
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-17224093-GC-G?dataset=gnomad_r4",
        "id": "17-17224093-GC-G",
        "variant": "17:17224093 GC / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 17224095,
          "referenceAllele": "C",
          "start": 17224094
        }
      ],
      "hgvs": [
        "NC_000017.11:g.17224095del",
        "CM000679.2:g.17224095del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 17127409,
          "referenceAllele": "C",
          "start": 17127408
        }
      ],
      "hgvs": [
        "NC_000017.10:g.17127409del",
        "CM000679.1:g.17127409del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 17068134,
          "referenceAllele": "C",
          "start": 17068133
        }
      ],
      "hgvs": [
        "NC_000017.9:g.17068134del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 18095,
          "referenceAllele": "G",
          "start": 18094
        }
      ],
      "hgvs": [
        "NG_008001.2:g.18095del",
        "LRG_325:g.18095del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000765"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 930,
          "referenceAllele": "G",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000285071.9:c.446del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285071.4:p.Gly149AlafsTer28",
        "hgvsWellDefined": "ENSP00000285071.4:p.[Gly149_Phe152delinsAlaLeuCys;His154Ala;Phe156_Arg164delinsProSerSerSerArgThrAlaTrpPro;Phe166_Tyr170delinsAlaSer;Ile172_Ile173delinsAlaGly;Ile175_Asp178delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743795",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285071.9:c.446del"
          },
          "RefSeq": {
            "hgvs": "NM_144997.7:c.446del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285071.4:p.Gly149AlafsTer28"
          },
          "RefSeq": {
            "hgvs": "NP_659434.2:p.Gly149AlafsTer28"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 901,
          "referenceAllele": "G",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000285071.8:c.446del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285071.4:p.Gly149AlafsTer28",
        "hgvsWellDefined": "ENSP00000285071.4:p.[Gly149_Phe152delinsAlaLeuCys;His154Ala;Phe156_Arg164delinsProSerSerSerArgThrAlaTrpPro;Phe166_Tyr170delinsAlaSer;Ile172_Ile173delinsAlaGly;Ile175_Asp178delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253278"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 901,
          "referenceAllele": "G",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000389169.9:c.446del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373821.5:p.Gly149AlafsTer28",
        "hgvsWellDefined": "ENSP00000373821.5:p.[Gly149_Phe152delinsAlaLeuCys;His154Ala;Phe156_Arg164delinsProSerSerSerArgThrAlaTrpPro;Phe166_Tyr170delinsAlaSer;Ile172_Ile173delinsAlaGly;Ile175_Asp178delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274164"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "G",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000417064.1:c.287del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410410.1:p.Gly96AlafsTer28",
        "hgvsWellDefined": "ENSP00000410410.1:p.[Gly96_Phe99delinsAlaLeuCys;His101Ala;Phe103_Arg111delinsProSerSerSerArgThrAlaTrpPro;Phe113_Tyr117delinsAlaSer;Ile119_Ile120delinsAlaGly;Ile122_Asp125delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284744"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 649,
          "endIntronDirection": "+",
          "endIntronOffset": 3896,
          "referenceAllele": "G",
          "start": 649,
          "startIntronDirection": "+",
          "startIntronOffset": 3895
        }
      ],
      "hgvs": [
        "ENST00000427497.3:c.148+3896del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394249.3:n.148+3896del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289728"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 412,
          "referenceAllele": "G",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000480316.1:n.412del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320491"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.5:c.446del"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Gly149AlafsTer28",
        "hgvsWellDefined": "NP_653207.1:p.[Gly149_Phe152delinsAlaLeuCys;His154Ala;Phe156_Arg164delinsProSerSerSerArgThrAlaTrpPro;Phe166_Tyr170delinsAlaSer;Ile172_Ile173delinsAlaGly;Ile175_Asp178delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041134"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.5:c.446del",
        "LRG_325t1:c.446del"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Gly149AlafsTer28",
        "hgvsWellDefined": "NP_659434.2:p.[Gly149_Phe152delinsAlaLeuCys;His154Ala;Phe156_Arg164delinsProSerSerSerArgThrAlaTrpPro;Phe166_Tyr170delinsAlaSer;Ile172_Ile173delinsAlaGly;Ile175_Asp178delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041289"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1004,
          "referenceAllele": "G",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523714.1:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522016.1:p.Gly167AlafsTer28",
        "hgvsWellDefined": "XP_011522016.1:p.[Gly167_Phe170delinsAlaLeuCys;His172Ala;Phe174_Arg182delinsProSerSerSerArgThrAlaTrpPro;Phe184_Tyr188delinsAlaSer;Ile190_Ile191delinsAlaGly;Ile193_Asp196delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090847"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1748,
          "referenceAllele": "G",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523715.1:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522017.1:p.Gly167AlafsTer28",
        "hgvsWellDefined": "XP_011522017.1:p.[Gly167_Phe170delinsAlaLeuCys;His172Ala;Phe174_Arg182delinsProSerSerSerArgThrAlaTrpPro;Phe184_Tyr188delinsAlaSer;Ile190_Ile191delinsAlaGly;Ile193_Asp196delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090848"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1379,
          "referenceAllele": "G",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523716.1:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522018.1:p.Gly167AlafsTer28",
        "hgvsWellDefined": "XP_011522018.1:p.[Gly167_Phe170delinsAlaLeuCys;His172Ala;Phe174_Arg182delinsProSerSerSerArgThrAlaTrpPro;Phe184_Tyr188delinsAlaSer;Ile190_Ile191delinsAlaGly;Ile193_Asp196delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090849"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1664,
          "referenceAllele": "G",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523717.1:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522019.1:p.Gly167AlafsTer28",
        "hgvsWellDefined": "XP_011522019.1:p.[Gly167_Phe170delinsAlaLeuCys;His172Ala;Phe174_Arg182delinsProSerSerSerArgThrAlaTrpPro;Phe184_Tyr188delinsAlaSer;Ile190_Ile191delinsAlaGly;Ile193_Asp196delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090850"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 915,
          "referenceAllele": "G",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523718.1:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522020.1:p.Gly167AlafsTer28",
        "hgvsWellDefined": "XP_011522020.1:p.[Gly167_Phe170delinsAlaLeuCys;His172Ala;Phe174_Arg182delinsProSerSerSerArgThrAlaTrpPro;Phe184_Tyr188delinsAlaSer;Ile190_Ile191delinsAlaGly;Ile193_Asp196delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090851"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1840,
          "referenceAllele": "G",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523719.1:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522021.1:p.Gly167AlafsTer28",
        "hgvsWellDefined": "XP_011522021.1:p.[Gly167_Phe170delinsAlaLeuCys;His172Ala;Phe174_Arg182delinsProSerSerSerArgThrAlaTrpPro;Phe184_Tyr188delinsAlaSer;Ile190_Ile191delinsAlaGly;Ile193_Asp196delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090852"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1736,
          "endIntronDirection": "-",
          "endIntronOffset": 1432,
          "referenceAllele": "G",
          "start": 1736,
          "startIntronDirection": "-",
          "startIntronOffset": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523720.1:c.397-1433del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522022.1:n.397-1433del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090853"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 743,
          "referenceAllele": "G",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523721.1:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522023.1:p.Gly167AlafsTer28",
        "hgvsWellDefined": "XP_011522023.1:p.[Gly167_Phe170delinsAlaLeuCys;His172Ala;Phe174_Arg182delinsProSerSerSerArgThrAlaTrpPro;Phe184_Tyr188delinsAlaSer;Ile190_Ile191delinsAlaGly;Ile193_Asp196delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090854"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1840,
          "referenceAllele": "G",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XR_934007.1:n.1840del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129452"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1215,
          "referenceAllele": "G",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353229.1:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340158.1:p.Gly167AlafsTer28",
        "hgvsWellDefined": "NP_001340158.1:p.[Gly167_Phe170delinsAlaLeuCys;His172Ala;Phe174_Arg182delinsProSerSerSerArgThrAlaTrpPro;Phe184_Tyr188delinsAlaSer;Ile190_Ile191delinsAlaGly;Ile193_Asp196delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521570"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1236,
          "referenceAllele": "G",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.1:c.446del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340159.1:p.Gly149AlafsTer28",
        "hgvsWellDefined": "NP_001340159.1:p.[Gly149_Phe152delinsAlaLeuCys;His154Ala;Phe156_Arg164delinsProSerSerSerArgThrAlaTrpPro;Phe166_Tyr170delinsAlaSer;Ile172_Ile173delinsAlaGly;Ile175_Asp178delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521571"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1152,
          "referenceAllele": "G",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.1:c.446del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:p.Gly149AlafsTer28",
        "hgvsWellDefined": "NP_001340160.1:p.[Gly149_Phe152delinsAlaLeuCys;His154Ala;Phe156_Arg164delinsProSerSerSerArgThrAlaTrpPro;Phe166_Tyr170delinsAlaSer;Ile172_Ile173delinsAlaGly;Ile175_Asp178delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521572"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 953,
          "referenceAllele": "G",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.6:c.446del"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Gly149AlafsTer28",
        "hgvsWellDefined": "NP_653207.1:p.[Gly149_Phe152delinsAlaLeuCys;His154Ala;Phe156_Arg164delinsProSerSerSerArgThrAlaTrpPro;Phe166_Tyr170delinsAlaSer;Ile172_Ile173delinsAlaGly;Ile175_Asp178delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526562"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 953,
          "referenceAllele": "G",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.6:c.446del"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Gly149AlafsTer28",
        "hgvsWellDefined": "NP_659434.2:p.[Gly149_Phe152delinsAlaLeuCys;His154Ala;Phe156_Arg164delinsProSerSerSerArgThrAlaTrpPro;Phe166_Tyr170delinsAlaSer;Ile172_Ile173delinsAlaGly;Ile175_Asp178delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526585"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1004,
          "referenceAllele": "G",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523714.3:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522016.1:p.Gly167AlafsTer28",
        "hgvsWellDefined": "XP_011522016.1:p.[Gly167_Phe170delinsAlaLeuCys;His172Ala;Phe174_Arg182delinsProSerSerSerArgThrAlaTrpPro;Phe184_Tyr188delinsAlaSer;Ile190_Ile191delinsAlaGly;Ile193_Asp196delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547137"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 890,
          "referenceAllele": "G",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523718.3:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522020.1:p.Gly167AlafsTer28",
        "hgvsWellDefined": "XP_011522020.1:p.[Gly167_Phe170delinsAlaLeuCys;His172Ala;Phe174_Arg182delinsProSerSerSerArgThrAlaTrpPro;Phe184_Tyr188delinsAlaSer;Ile190_Ile191delinsAlaGly;Ile193_Asp196delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547138"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1004,
          "referenceAllele": "G",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523719.3:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522021.1:p.Gly167AlafsTer28",
        "hgvsWellDefined": "XP_011522021.1:p.[Gly167_Phe170delinsAlaLeuCys;His172Ala;Phe174_Arg182delinsProSerSerSerArgThrAlaTrpPro;Phe184_Tyr188delinsAlaSer;Ile190_Ile191delinsAlaGly;Ile193_Asp196delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547139"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523721.3:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522023.1:p.Gly167AlafsTer28",
        "hgvsWellDefined": "XP_011522023.1:p.[Gly167_Phe170delinsAlaLeuCys;His172Ala;Phe174_Arg182delinsProSerSerSerArgThrAlaTrpPro;Phe184_Tyr188delinsAlaSer;Ile190_Ile191delinsAlaGly;Ile193_Asp196delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547140"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1185,
          "referenceAllele": "G",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024305.2:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879794.1:p.Gly167AlafsTer28",
        "hgvsWellDefined": "XP_016879794.1:p.[Gly167_Phe170delinsAlaLeuCys;His172Ala;Phe174_Arg182delinsProSerSerSerArgThrAlaTrpPro;Phe184_Tyr188delinsAlaSer;Ile190_Ile191delinsAlaGly;Ile193_Asp196delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574895"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1312,
          "referenceAllele": "G",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024308.1:c.446del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879797.1:p.Gly149AlafsTer28",
        "hgvsWellDefined": "XP_016879797.1:p.[Gly149_Phe152delinsAlaLeuCys;His154Ala;Phe156_Arg164delinsProSerSerSerArgThrAlaTrpPro;Phe166_Tyr170delinsAlaSer;Ile172_Ile173delinsAlaGly;Ile175_Asp178delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574896"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 900,
          "endIntronDirection": "-",
          "endIntronOffset": 1432,
          "referenceAllele": "G",
          "start": 900,
          "startIntronDirection": "-",
          "startIntronOffset": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024309.2:c.397-1433del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879798.1:n.397-1433del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574897"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2194,
          "referenceAllele": "G",
          "start": 2193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_024450635.1:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306403.1:p.Gly167AlafsTer28",
        "hgvsWellDefined": "XP_024306403.1:p.[Gly167_Phe170delinsAlaLeuCys;His172Ala;Phe174_Arg182delinsProSerSerSerArgThrAlaTrpPro;Phe184_Tyr188delinsAlaSer;Ile190_Ile191delinsAlaGly;Ile193_Asp196delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584169"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1004,
          "referenceAllele": "G",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XR_001752445.2:n.1004del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599146"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 930,
          "referenceAllele": "G",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.7:c.446del"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Gly149AlafsTer28",
        "hgvsWellDefined": "NP_659434.2:p.[Gly149_Phe152delinsAlaLeuCys;His154Ala;Phe156_Arg164delinsProSerSerSerArgThrAlaTrpPro;Phe166_Tyr170delinsAlaSer;Ile172_Ile173delinsAlaGly;Ile175_Asp178delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285071.9:c.446del"
          },
          "RefSeq": {
            "hgvs": "NM_144997.7:c.446del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285071.4:p.Gly149AlafsTer28"
          },
          "RefSeq": {
            "hgvs": "NP_659434.2:p.Gly149AlafsTer28"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1192,
          "referenceAllele": "G",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353229.2:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340158.1:p.Gly167AlafsTer28",
        "hgvsWellDefined": "NP_001340158.1:p.[Gly167_Phe170delinsAlaLeuCys;His172Ala;Phe174_Arg182delinsProSerSerSerArgThrAlaTrpPro;Phe184_Tyr188delinsAlaSer;Ile190_Ile191delinsAlaGly;Ile193_Asp196delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689657"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1213,
          "referenceAllele": "G",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.2:c.446del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340159.1:p.Gly149AlafsTer28",
        "hgvsWellDefined": "NP_001340159.1:p.[Gly149_Phe152delinsAlaLeuCys;His154Ala;Phe156_Arg164delinsProSerSerSerArgThrAlaTrpPro;Phe166_Tyr170delinsAlaSer;Ile172_Ile173delinsAlaGly;Ile175_Asp178delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689658"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1129,
          "referenceAllele": "G",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.2:c.446del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:p.Gly149AlafsTer28",
        "hgvsWellDefined": "NP_001340160.1:p.[Gly149_Phe152delinsAlaLeuCys;His154Ala;Phe156_Arg164delinsProSerSerSerArgThrAlaTrpPro;Phe166_Tyr170delinsAlaSer;Ile172_Ile173delinsAlaGly;Ile175_Asp178delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689659"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 930,
          "referenceAllele": "G",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.7:c.446del"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Gly149AlafsTer28",
        "hgvsWellDefined": "NP_653207.1:p.[Gly149_Phe152delinsAlaLeuCys;His154Ala;Phe156_Arg164delinsProSerSerSerArgThrAlaTrpPro;Phe166_Tyr170delinsAlaSer;Ile172_Ile173delinsAlaGly;Ile175_Asp178delinsAlaSerSerProSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699908"
    }
  ],
  "type": "nucleotide"
}