{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2964079608",
  "communityStandardTitle": [
    "NM_144997.7(FLCN):c.702dup (p.Gly235ArgfsTer13)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 17222578,
          "referenceAllele": "",
          "start": 17222578
        }
      ],
      "hgvs": [
        "NC_000017.11:g.17222578dup",
        "CM000679.2:g.17222578dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 17125892,
          "referenceAllele": "",
          "start": 17125892
        }
      ],
      "hgvs": [
        "NC_000017.10:g.17125892dup",
        "CM000679.1:g.17125892dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 17066617,
          "referenceAllele": "",
          "start": 17066617
        }
      ],
      "hgvs": [
        "NC_000017.9:g.17066617dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 19611,
          "referenceAllele": "",
          "start": 19611
        }
      ],
      "hgvs": [
        "NG_008001.2:g.19611dup",
        "LRG_325:g.19611dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000765"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1186,
          "referenceAllele": "",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000285071.9:c.702dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285071.4:p.Gly235ArgfsTer13",
        "hgvsWellDefined": "ENSP00000285071.4:p.[Gly235_Ala238delinsArgGlnArg;Ser240Pro;Thr242_Ser246delinsAla;Asp248_Trp251delinsIle;Cys253_Leu262delinsAsp;Ala264del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743795",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285071.9:c.702dup"
          },
          "RefSeq": {
            "hgvs": "NM_144997.7:c.702dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285071.4:p.Gly235ArgfsTer13"
          },
          "RefSeq": {
            "hgvs": "NP_659434.2:p.Gly235ArgfsTer13"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1157,
          "referenceAllele": "",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000285071.8:c.702dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285071.4:p.Gly235ArgfsTer13",
        "hgvsWellDefined": "ENSP00000285071.4:p.[Gly235_Ala238delinsArgGlnArg;Ser240Pro;Thr242_Ser246delinsAla;Asp248_Trp251delinsIle;Cys253_Leu262delinsAsp;Ala264del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253278"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1157,
          "referenceAllele": "",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000389169.9:c.702dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373821.5:p.Gly235ArgfsTer13",
        "hgvsWellDefined": "ENSP00000373821.5:p.[Gly235_Ala238delinsArgGlnArg;Ser240Pro;Thr242_Ser246delinsAla;Asp248_Trp251delinsIle;Cys253_Leu262delinsAsp;Ala264del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274164"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 649,
          "endIntronDirection": "-",
          "endIntronOffset": 3523,
          "referenceAllele": "",
          "start": 649,
          "startIntronDirection": "-",
          "startIntronOffset": 3523
        }
      ],
      "hgvs": [
        "ENST00000427497.3:c.149-3524dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394249.3:n.149-3524dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 545,
          "referenceAllele": "",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000466317.1:n.545dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309715"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 668,
          "referenceAllele": "",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000480316.1:n.668dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1206,
          "referenceAllele": "",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.5:c.702dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Gly235ArgfsTer13",
        "hgvsWellDefined": "NP_653207.1:p.[Gly235_Ala238delinsArgGlnArg;Ser240Pro;Thr242_Ser246delinsAla;Asp248_Trp251delinsIle;Cys253_Leu262delinsAsp;Ala264del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041134"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1206,
          "referenceAllele": "",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.5:c.702dup",
        "LRG_325t1:c.702dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Gly235ArgfsTer13",
        "hgvsWellDefined": "NP_659434.2:p.[Gly235_Ala238delinsArgGlnArg;Ser240Pro;Thr242_Ser246delinsAla;Asp248_Trp251delinsIle;Cys253_Leu262delinsAsp;Ala264del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041289"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1260,
          "referenceAllele": "",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523714.1:c.756dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522016.1:p.Gly253ArgfsTer13",
        "hgvsWellDefined": "XP_011522016.1:p.[Gly253_Ala256delinsArgGlnArg;Ser258Pro;Thr260_Ser264delinsAla;Asp266_Trp269delinsIle;Cys271_Leu280delinsAsp;Ala282del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090847"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2004,
          "referenceAllele": "",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523715.1:c.756dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522017.1:p.Gly253ArgfsTer13",
        "hgvsWellDefined": "XP_011522017.1:p.[Gly253_Ala256delinsArgGlnArg;Ser258Pro;Thr260_Ser264delinsAla;Asp266_Trp269delinsIle;Cys271_Leu280delinsAsp;Ala282del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090848"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1635,
          "referenceAllele": "",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523716.1:c.756dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522018.1:p.Gly253ArgfsTer13",
        "hgvsWellDefined": "XP_011522018.1:p.[Gly253_Ala256delinsArgGlnArg;Ser258Pro;Thr260_Ser264delinsAla;Asp266_Trp269delinsIle;Cys271_Leu280delinsAsp;Ala282del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090849"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1920,
          "referenceAllele": "",
          "start": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523717.1:c.756dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522019.1:p.Gly253ArgfsTer13",
        "hgvsWellDefined": "XP_011522019.1:p.[Gly253_Ala256delinsArgGlnArg;Ser258Pro;Thr260_Ser264delinsAla;Asp266_Trp269delinsIle;Cys271_Leu280delinsAsp;Ala282del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1171,
          "referenceAllele": "",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523718.1:c.756dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522020.1:p.Gly253ArgfsTer13",
        "hgvsWellDefined": "XP_011522020.1:p.[Gly253_Ala256delinsArgGlnArg;Ser258Pro;Thr260_Ser264delinsAla;Asp266_Trp269delinsIle;Cys271_Leu280delinsAsp;Ala282del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2096,
          "referenceAllele": "",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523719.1:c.756dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522021.1:p.Gly253ArgfsTer13",
        "hgvsWellDefined": "XP_011522021.1:p.[Gly253_Ala256delinsArgGlnArg;Ser258Pro;Thr260_Ser264delinsAla;Asp266_Trp269delinsIle;Cys271_Leu280delinsAsp;Ala282del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090852"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1820,
          "referenceAllele": "",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523720.1:c.480dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522022.1:p.Gly161ArgfsTer13",
        "hgvsWellDefined": "XP_011522022.1:p.[Gly161_Ala164delinsArgGlnArg;Ser166Pro;Thr168_Ser172delinsAla;Asp174_Trp177delinsIle;Cys179_Leu188delinsAsp;Ala190del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090853"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 999,
          "referenceAllele": "",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523721.1:c.756dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522023.1:p.Gly253ArgfsTer13",
        "hgvsWellDefined": "XP_011522023.1:p.[Gly253_Ala256delinsArgGlnArg;Ser258Pro;Thr260_Ser264delinsAla;Asp266_Trp269delinsIle;Cys271_Leu280delinsAsp;Ala282del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090854"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2096,
          "referenceAllele": "",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XR_934007.1:n.2096dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129452"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1471,
          "referenceAllele": "",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353229.1:c.756dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340158.1:p.Gly253ArgfsTer13",
        "hgvsWellDefined": "NP_001340158.1:p.[Gly253_Ala256delinsArgGlnArg;Ser258Pro;Thr260_Ser264delinsAla;Asp266_Trp269delinsIle;Cys271_Leu280delinsAsp;Ala282del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1492,
          "referenceAllele": "",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.1:c.702dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340159.1:p.Gly235ArgfsTer13",
        "hgvsWellDefined": "NP_001340159.1:p.[Gly235_Ala238delinsArgGlnArg;Ser240Pro;Thr242_Ser246delinsAla;Asp248_Trp251delinsIle;Cys253_Leu262delinsAsp;Ala264del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521571"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1408,
          "referenceAllele": "",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.1:c.702dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:p.Gly235ArgfsTer13",
        "hgvsWellDefined": "NP_001340160.1:p.[Gly235_Ala238delinsArgGlnArg;Ser240Pro;Thr242_Ser246delinsAla;Asp248_Trp251delinsIle;Cys253_Leu262delinsAsp;Ala264del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521572"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1209,
          "referenceAllele": "",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.6:c.702dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Gly235ArgfsTer13",
        "hgvsWellDefined": "NP_653207.1:p.[Gly235_Ala238delinsArgGlnArg;Ser240Pro;Thr242_Ser246delinsAla;Asp248_Trp251delinsIle;Cys253_Leu262delinsAsp;Ala264del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526562"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1209,
          "referenceAllele": "",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.6:c.702dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Gly235ArgfsTer13",
        "hgvsWellDefined": "NP_659434.2:p.[Gly235_Ala238delinsArgGlnArg;Ser240Pro;Thr242_Ser246delinsAla;Asp248_Trp251delinsIle;Cys253_Leu262delinsAsp;Ala264del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526585"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1260,
          "referenceAllele": "",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523714.3:c.756dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522016.1:p.Gly253ArgfsTer13",
        "hgvsWellDefined": "XP_011522016.1:p.[Gly253_Ala256delinsArgGlnArg;Ser258Pro;Thr260_Ser264delinsAla;Asp266_Trp269delinsIle;Cys271_Leu280delinsAsp;Ala282del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547137"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1146,
          "referenceAllele": "",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523718.3:c.756dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522020.1:p.Gly253ArgfsTer13",
        "hgvsWellDefined": "XP_011522020.1:p.[Gly253_Ala256delinsArgGlnArg;Ser258Pro;Thr260_Ser264delinsAla;Asp266_Trp269delinsIle;Cys271_Leu280delinsAsp;Ala282del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547138"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1260,
          "referenceAllele": "",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523719.3:c.756dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522021.1:p.Gly253ArgfsTer13",
        "hgvsWellDefined": "XP_011522021.1:p.[Gly253_Ala256delinsArgGlnArg;Ser258Pro;Thr260_Ser264delinsAla;Asp266_Trp269delinsIle;Cys271_Leu280delinsAsp;Ala282del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1005,
          "referenceAllele": "",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523721.3:c.756dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522023.1:p.Gly253ArgfsTer13",
        "hgvsWellDefined": "XP_011522023.1:p.[Gly253_Ala256delinsArgGlnArg;Ser258Pro;Thr260_Ser264delinsAla;Asp266_Trp269delinsIle;Cys271_Leu280delinsAsp;Ala282del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547140"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1441,
          "referenceAllele": "",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024305.2:c.756dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879794.1:p.Gly253ArgfsTer13",
        "hgvsWellDefined": "XP_016879794.1:p.[Gly253_Ala256delinsArgGlnArg;Ser258Pro;Thr260_Ser264delinsAla;Asp266_Trp269delinsIle;Cys271_Leu280delinsAsp;Ala282del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574895"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1568,
          "referenceAllele": "",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024308.1:c.702dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879797.1:p.Gly235ArgfsTer13",
        "hgvsWellDefined": "XP_016879797.1:p.[Gly235_Ala238delinsArgGlnArg;Ser240Pro;Thr242_Ser246delinsAla;Asp248_Trp251delinsIle;Cys253_Leu262delinsAsp;Ala264del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574896"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 984,
          "referenceAllele": "",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024309.2:c.480dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879798.1:p.Gly161ArgfsTer13",
        "hgvsWellDefined": "XP_016879798.1:p.[Gly161_Ala164delinsArgGlnArg;Ser166Pro;Thr168_Ser172delinsAla;Asp174_Trp177delinsIle;Cys179_Leu188delinsAsp;Ala190del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2450,
          "referenceAllele": "",
          "start": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_024450635.1:c.756dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306403.1:p.Gly253ArgfsTer13",
        "hgvsWellDefined": "XP_024306403.1:p.[Gly253_Ala256delinsArgGlnArg;Ser258Pro;Thr260_Ser264delinsAla;Asp266_Trp269delinsIle;Cys271_Leu280delinsAsp;Ala282del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1260,
          "referenceAllele": "",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XR_001752445.2:n.1260dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1186,
          "referenceAllele": "",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.7:c.702dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Gly235ArgfsTer13",
        "hgvsWellDefined": "NP_659434.2:p.[Gly235_Ala238delinsArgGlnArg;Ser240Pro;Thr242_Ser246delinsAla;Asp248_Trp251delinsIle;Cys253_Leu262delinsAsp;Ala264del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285071.9:c.702dup"
          },
          "RefSeq": {
            "hgvs": "NM_144997.7:c.702dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285071.4:p.Gly235ArgfsTer13"
          },
          "RefSeq": {
            "hgvs": "NP_659434.2:p.Gly235ArgfsTer13"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1448,
          "referenceAllele": "",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353229.2:c.756dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340158.1:p.Gly253ArgfsTer13",
        "hgvsWellDefined": "NP_001340158.1:p.[Gly253_Ala256delinsArgGlnArg;Ser258Pro;Thr260_Ser264delinsAla;Asp266_Trp269delinsIle;Cys271_Leu280delinsAsp;Ala282del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689657"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1469,
          "referenceAllele": "",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.2:c.702dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340159.1:p.Gly235ArgfsTer13",
        "hgvsWellDefined": "NP_001340159.1:p.[Gly235_Ala238delinsArgGlnArg;Ser240Pro;Thr242_Ser246delinsAla;Asp248_Trp251delinsIle;Cys253_Leu262delinsAsp;Ala264del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1385,
          "referenceAllele": "",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.2:c.702dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:p.Gly235ArgfsTer13",
        "hgvsWellDefined": "NP_001340160.1:p.[Gly235_Ala238delinsArgGlnArg;Ser240Pro;Thr242_Ser246delinsAla;Asp248_Trp251delinsIle;Cys253_Leu262delinsAsp;Ala264del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689659"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1186,
          "referenceAllele": "",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.7:c.702dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Gly235ArgfsTer13",
        "hgvsWellDefined": "NP_653207.1:p.[Gly235_Ala238delinsArgGlnArg;Ser240Pro;Thr242_Ser246delinsAla;Asp248_Trp251delinsIle;Cys253_Leu262delinsAsp;Ala264del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699908"
    }
  ],
  "type": "nucleotide"
}