{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041343",
  "communityStandardTitle": [
    "NM_000136.3(FANCC):c.1037dup (p.Ser347IlefsTer27)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357829[alleleid]",
        "alleleId": 357829,
        "preferredName": "NM_000136.3(FANCC):c.1037dup (p.Ser347fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370120",
        "RCV": [
          "RCV000409572"
        ],
        "variationId": 370120
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.97879632dupG?assembly=hg19",
        "id": "chr9:g.97879632dupG"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.97879631_97879632insG?assembly=hg19",
        "id": "chr9:g.97879631_97879632insG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95117350dupG?assembly=hg38",
        "id": "chr9:g.95117350dupG"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95117349_95117350insG?assembly=hg38",
        "id": "chr9:g.95117349_95117350insG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516248",
        "rs": 1057516248
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 95117351,
          "referenceAllele": "",
          "start": 95117351
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95117351dup",
        "CM000671.2:g.95117351dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 97879633,
          "referenceAllele": "",
          "start": 97879633
        }
      ],
      "hgvs": [
        "NC_000009.11:g.97879633dup",
        "CM000671.1:g.97879633dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 96919454,
          "referenceAllele": "",
          "start": 96919454
        }
      ],
      "hgvs": [
        "NC_000009.10:g.96919454dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 205360,
          "referenceAllele": "",
          "start": 205360
        }
      ],
      "hgvs": [
        "NG_011707.1:g.205360dup",
        "LRG_497:g.205360dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001916"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 410,
          "endIntronDirection": "-",
          "endIntronOffset": 29859,
          "referenceAllele": "",
          "start": 410,
          "startIntronDirection": "-",
          "startIntronOffset": 29859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001361",
      "geneNCBI_id": 84909,
      "geneSymbol": "AOPEP",
      "hgvs": [
        "ENST00000710812.1:n.411-29860dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914558"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1299,
          "referenceAllele": "",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000289081.8:c.1037dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289081.3:p.Ser347IlefsTer27",
        "hgvsWellDefined": "ENSP00000289081.3:p.[Ser347_Asp355delinsIleSerCysHisGlyAlaAlaAlaArg;Gln357_Ile359delinsSerArgTyr;Arg361Ser;His363_Gln366del;Lys369_Ser372delinsAlaProAspThr;Leu374_Leu375delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743967",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289081.8:c.1037dup"
          },
          "RefSeq": {
            "hgvs": "NM_000136.3:c.1037dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289081.3:p.Ser347IlefsTer27"
          },
          "RefSeq": {
            "hgvs": "NP_000127.2:p.Ser347IlefsTer27"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1241,
          "referenceAllele": "",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000375305.6:c.1037dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364454.1:p.Ser347IlefsTer27",
        "hgvsWellDefined": "ENSP00000364454.1:p.[Ser347_Asp355delinsIleSerCysHisGlyAlaAlaAlaArg;Gln357_Ile359delinsSerArgTyr;Arg361Ser;His363_Gln366del;Lys369_Ser372delinsAlaProAspThr;Leu374_Leu375delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751590"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1261,
          "referenceAllele": "",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000490972.7:c.1037dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479931.1:p.Ser347IlefsTer27",
        "hgvsWellDefined": "ENSP00000479931.1:p.[Ser347_Asp355delinsIleSerCysHisGlyAlaAlaAlaArg;Gln357_Ile359delinsSerArgTyr;Arg361Ser;His363_Gln366del;Lys369_Ser372delinsAlaProAspThr;Leu374_Leu375delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1182,
          "referenceAllele": "",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000649334.1:c.1182dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497735.1:n.1182dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000289081.7:c.1037dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289081.3:p.Ser347IlefsTer27",
        "hgvsWellDefined": "ENSP00000289081.3:p.[Ser347_Asp355delinsIleSerCysHisGlyAlaAlaAlaArg;Gln357_Ile359delinsSerArgTyr;Arg361Ser;His363_Gln366del;Lys369_Ser372delinsAlaProAspThr;Leu374_Leu375delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1212,
          "referenceAllele": "",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000375305.5:c.1037dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364454.1:p.Ser347IlefsTer27",
        "hgvsWellDefined": "ENSP00000364454.1:p.[Ser347_Asp355delinsIleSerCysHisGlyAlaAlaAlaArg;Gln357_Ile359delinsSerArgTyr;Arg361Ser;His363_Gln366del;Lys369_Ser372delinsAlaProAspThr;Leu374_Leu375delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 364,
          "referenceAllele": "",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000464627.5:n.364dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1033,
          "referenceAllele": "",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000464653.1:n.1033dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308432"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 392,
          "referenceAllele": "",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000477942.5:n.392dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 222,
          "referenceAllele": "",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000480712.5:n.222dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320797"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1299,
          "referenceAllele": "",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000490972.6:c.1037dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479931.1:p.Ser347IlefsTer27",
        "hgvsWellDefined": "ENSP00000479931.1:p.[Ser347_Asp355delinsIleSerCysHisGlyAlaAlaAlaArg;Gln357_Ile359delinsSerArgTyr;Arg361Ser;His363_Gln366del;Lys369_Ser372delinsAlaProAspThr;Leu374_Leu375delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1299,
          "referenceAllele": "",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_000136.2:c.1037dup",
        "LRG_497t1:c.1037dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000127.2:p.Ser347IlefsTer27",
        "hgvsWellDefined": "NP_000127.2:p.[Ser347_Asp355delinsIleSerCysHisGlyAlaAlaAlaArg;Gln357_Ile359delinsSerArgTyr;Arg361Ser;His363_Gln366del;Lys369_Ser372delinsAlaProAspThr;Leu374_Leu375delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1241,
          "referenceAllele": "",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243743.1:c.1037dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230672.1:p.Ser347IlefsTer27",
        "hgvsWellDefined": "NP_001230672.1:p.[Ser347_Asp355delinsIleSerCysHisGlyAlaAlaAlaArg;Gln357_Ile359delinsSerArgTyr;Arg361Ser;His363_Gln366del;Lys369_Ser372delinsAlaProAspThr;Leu374_Leu375delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1299,
          "referenceAllele": "",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243744.1:c.1037dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230673.1:p.Ser347IlefsTer27",
        "hgvsWellDefined": "NP_001230673.1:p.[Ser347_Asp355delinsIleSerCysHisGlyAlaAlaAlaArg;Gln357_Ile359delinsSerArgTyr;Arg361Ser;His363_Gln366del;Lys369_Ser372delinsAlaProAspThr;Leu374_Leu375delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "referenceAllele": "",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_005251802.2:c.356dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251859.1:p.Ser120IlefsTer27",
        "hgvsWellDefined": "XP_005251859.1:p.[Ser120_Asp128delinsIleSerCysHisGlyAlaAlaAlaArg;Gln130_Ile132delinsSerArgTyr;Arg134Ser;His136_Gln139del;Lys142_Ser145delinsAlaProAspThr;Leu147_Leu148delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1134,
          "referenceAllele": "",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717001.1:c.872dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717064.1:p.Ser292IlefsTer27",
        "hgvsWellDefined": "XP_006717064.1:p.[Ser292_Asp300delinsIleSerCysHisGlyAlaAlaAlaArg;Gln302_Ile304delinsSerArgTyr;Arg306Ser;His308_Gln311del;Lys314_Ser317delinsAlaProAspThr;Leu319_Leu320delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1299,
          "referenceAllele": "",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717002.2:c.1037dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717065.1:p.Ser347IlefsTer27",
        "hgvsWellDefined": "XP_006717065.1:p.[Ser347_Asp355delinsIleSerCysHisGlyAlaAlaAlaArg;Gln357_Ile359delinsSerArgTyr;Arg361Ser;His363_Gln366del;Lys369_Ser372delinsAlaProAspThr;Leu374_Leu375delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071946"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1258,
          "endIntronDirection": "-",
          "endIntronOffset": 2639,
          "referenceAllele": "",
          "start": 1258,
          "startIntronDirection": "-",
          "startIntronOffset": 2639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717004.2:c.997-2640dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717067.1:n.997-2640dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1274,
          "referenceAllele": "",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518365.1:c.1037dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516667.1:p.Ser347IlefsTer27",
        "hgvsWellDefined": "XP_011516667.1:p.[Ser347_Asp355delinsIleSerCysHisGlyAlaAlaAlaArg;Gln357_Ile359delinsSerArgTyr;Arg361Ser;His363_Gln366del;Lys369_Ser372delinsAlaProAspThr;Leu374_Leu375delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1299,
          "referenceAllele": "",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518366.1:c.1037dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516668.1:p.Ser347IlefsTer27",
        "hgvsWellDefined": "XP_011516668.1:p.[Ser347_Asp355delinsIleSerCysHisGlyAlaAlaAlaArg;Gln357_Ile359delinsSerArgTyr;Arg361Ser;His363_Gln366del;Lys369_Ser372delinsAlaProAspThr;Leu374_Leu375delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1357,
          "referenceAllele": "",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518367.1:c.581dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516669.1:p.Ser195IlefsTer27",
        "hgvsWellDefined": "XP_011516669.1:p.[Ser195_Asp203delinsIleSerCysHisGlyAlaAlaAlaArg;Gln205_Ile207delinsSerArgTyr;Arg209Ser;His211_Gln214del;Lys217_Ser220delinsAlaProAspThr;Leu222_Leu223delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2602,
          "endIntronDirection": "-",
          "endIntronOffset": 29859,
          "referenceAllele": "",
          "start": 2602,
          "startIntronDirection": "-",
          "startIntronOffset": 29859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001361",
      "geneNCBI_id": 84909,
      "geneSymbol": "AOPEP",
      "hgvs": [
        "XM_011519121.1:c.2320-29860dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517423.1:n.2320-29860dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "referenceAllele": "",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_005251802.3:c.356dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251859.1:p.Ser120IlefsTer27",
        "hgvsWellDefined": "XP_005251859.1:p.[Ser120_Asp128delinsIleSerCysHisGlyAlaAlaAlaArg;Gln130_Ile132delinsSerArgTyr;Arg134Ser;His136_Gln139del;Lys142_Ser145delinsAlaProAspThr;Leu147_Leu148delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1134,
          "referenceAllele": "",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717001.3:c.872dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717064.1:p.Ser292IlefsTer27",
        "hgvsWellDefined": "XP_006717064.1:p.[Ser292_Asp300delinsIleSerCysHisGlyAlaAlaAlaArg;Gln302_Ile304delinsSerArgTyr;Arg306Ser;His308_Gln311del;Lys314_Ser317delinsAlaProAspThr;Leu319_Leu320delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1299,
          "referenceAllele": "",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717002.4:c.1037dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717065.1:p.Ser347IlefsTer27",
        "hgvsWellDefined": "XP_006717065.1:p.[Ser347_Asp355delinsIleSerCysHisGlyAlaAlaAlaArg;Gln357_Ile359delinsSerArgTyr;Arg361Ser;His363_Gln366del;Lys369_Ser372delinsAlaProAspThr;Leu374_Leu375delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1258,
          "endIntronDirection": "-",
          "endIntronOffset": 2639,
          "referenceAllele": "",
          "start": 1258,
          "startIntronDirection": "-",
          "startIntronOffset": 2639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717004.4:c.997-2640dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717067.1:n.997-2640dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539306"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3108,
          "referenceAllele": "",
          "start": 3108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518365.3:c.1037dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516667.1:p.Ser347IlefsTer27",
        "hgvsWellDefined": "XP_011516667.1:p.[Ser347_Asp355delinsIleSerCysHisGlyAlaAlaAlaArg;Gln357_Ile359delinsSerArgTyr;Arg361Ser;His363_Gln366del;Lys369_Ser372delinsAlaProAspThr;Leu374_Leu375delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1299,
          "referenceAllele": "",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518366.3:c.1037dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516668.1:p.Ser347IlefsTer27",
        "hgvsWellDefined": "XP_011516668.1:p.[Ser347_Asp355delinsIleSerCysHisGlyAlaAlaAlaArg;Gln357_Ile359delinsSerArgTyr;Arg361Ser;His363_Gln366del;Lys369_Ser372delinsAlaProAspThr;Leu374_Leu375delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544882"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1411,
          "referenceAllele": "",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518367.2:c.581dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516669.1:p.Ser195IlefsTer27",
        "hgvsWellDefined": "XP_011516669.1:p.[Ser195_Asp203delinsIleSerCysHisGlyAlaAlaAlaArg;Gln205_Ile207delinsSerArgTyr;Arg209Ser;His211_Gln214del;Lys217_Ser220delinsAlaProAspThr;Leu222_Leu223delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544883"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2537,
          "endIntronDirection": "-",
          "endIntronOffset": 29859,
          "referenceAllele": "",
          "start": 2537,
          "startIntronDirection": "-",
          "startIntronOffset": 29859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001361",
      "geneNCBI_id": 84909,
      "geneSymbol": "AOPEP",
      "hgvs": [
        "XM_011519121.3:c.2320-29860dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517423.1:n.2320-29860dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1428,
          "referenceAllele": "",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014452.2:c.581dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869941.1:p.Ser195IlefsTer27",
        "hgvsWellDefined": "XP_016869941.1:p.[Ser195_Asp203delinsIleSerCysHisGlyAlaAlaAlaArg;Gln205_Ile207delinsSerArgTyr;Arg209Ser;His211_Gln214del;Lys217_Ser220delinsAlaProAspThr;Leu222_Leu223delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1373,
          "referenceAllele": "",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014453.1:c.581dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869942.1:p.Ser195IlefsTer27",
        "hgvsWellDefined": "XP_016869942.1:p.[Ser195_Asp203delinsIleSerCysHisGlyAlaAlaAlaArg;Gln205_Ile207delinsSerArgTyr;Arg209Ser;His211_Gln214del;Lys217_Ser220delinsAlaProAspThr;Leu222_Leu223delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1300,
          "referenceAllele": "",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014454.1:c.416dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869943.1:p.Ser140IlefsTer27",
        "hgvsWellDefined": "XP_016869943.1:p.[Ser140_Asp148delinsIleSerCysHisGlyAlaAlaAlaArg;Gln150_Ile152delinsSerArgTyr;Arg154Ser;His156_Gln159del;Lys162_Ser165delinsAlaProAspThr;Leu167_Leu168delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1273,
          "referenceAllele": "",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_024447451.1:c.1037dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303219.1:p.Ser347IlefsTer27",
        "hgvsWellDefined": "XP_024303219.1:p.[Ser347_Asp355delinsIleSerCysHisGlyAlaAlaAlaArg;Gln357_Ile359delinsSerArgTyr;Arg361Ser;His363_Gln366del;Lys369_Ser372delinsAlaProAspThr;Leu374_Leu375delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581033"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1299,
          "referenceAllele": "",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_000136.3:c.1037dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000127.2:p.Ser347IlefsTer27",
        "hgvsWellDefined": "NP_000127.2:p.[Ser347_Asp355delinsIleSerCysHisGlyAlaAlaAlaArg;Gln357_Ile359delinsSerArgTyr;Arg361Ser;His363_Gln366del;Lys369_Ser372delinsAlaProAspThr;Leu374_Leu375delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674720",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289081.8:c.1037dup"
          },
          "RefSeq": {
            "hgvs": "NM_000136.3:c.1037dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289081.3:p.Ser347IlefsTer27"
          },
          "RefSeq": {
            "hgvs": "NP_000127.2:p.Ser347IlefsTer27"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1241,
          "referenceAllele": "",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243743.2:c.1037dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230672.1:p.Ser347IlefsTer27",
        "hgvsWellDefined": "NP_001230672.1:p.[Ser347_Asp355delinsIleSerCysHisGlyAlaAlaAlaArg;Gln357_Ile359delinsSerArgTyr;Arg361Ser;His363_Gln366del;Lys369_Ser372delinsAlaProAspThr;Leu374_Leu375delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714504"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1299,
          "referenceAllele": "",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243744.2:c.1037dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230673.1:p.Ser347IlefsTer27",
        "hgvsWellDefined": "NP_001230673.1:p.[Ser347_Asp355delinsIleSerCysHisGlyAlaAlaAlaArg;Gln357_Ile359delinsSerArgTyr;Arg361Ser;His363_Gln366del;Lys369_Ser372delinsAlaProAspThr;Leu374_Leu375delinsAlaTyrPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714505"
    }
  ],
  "type": "nucleotide"
}