{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA589580888",
  "communityStandardTitle": [
    "NM_000136.3(FANCC):c.1288_1290del (p.Tyr430del)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=475126[alleleid]",
        "alleleId": 475126,
        "preferredName": "NM_000136.3(FANCC):c.1285TAC[1] (p.Tyr430del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/485542",
        "RCV": [
          "RCV000565785",
          "RCV001853768",
          "RCV001273983"
        ],
        "variationId": 485542
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.97873784_97873786del?assembly=hg19",
        "id": "chr9:g.97873784_97873786del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95111502_95111504del?assembly=hg38",
        "id": "chr9:g.95111502_95111504del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1210997135",
        "rs": 1210997135
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-97873783-CGTA-C?dataset=gnomad_r2_1",
        "id": "9-97873783-CGTA-C",
        "variant": "9:97873783 CGTA / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95111501-CGTA-C?dataset=gnomad_r3",
        "id": "9-95111501-CGTA-C",
        "variant": "9:95111501 CGTA / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95111501-CGTA-C?dataset=gnomad_r4",
        "id": "9-95111501-CGTA-C",
        "variant": "9:95111501 CGTA / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 95111508,
          "referenceAllele": "TAG",
          "start": 95111505
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95111506_95111508del",
        "CM000671.2:g.95111506_95111508del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 97873790,
          "referenceAllele": "TAG",
          "start": 97873787
        }
      ],
      "hgvs": [
        "NC_000009.11:g.97873788_97873790del",
        "CM000671.1:g.97873788_97873790del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 96913611,
          "referenceAllele": "TAG",
          "start": 96913608
        }
      ],
      "hgvs": [
        "NC_000009.10:g.96913609_96913611del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 211208,
          "referenceAllele": "ACT",
          "start": 211205
        }
      ],
      "hgvs": [
        "NG_011707.1:g.211206_211208del",
        "LRG_497:g.211206_211208del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001916"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 410,
          "endIntronDirection": "+",
          "endIntronOffset": 30728,
          "referenceAllele": "TAG",
          "start": 410,
          "startIntronDirection": "+",
          "startIntronOffset": 30725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001361",
      "geneNCBI_id": 84909,
      "geneSymbol": "AOPEP",
      "hgvs": [
        "ENST00000710812.1:n.410+30726_410+30728del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914558"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2105,
          "referenceAllele": "ACT",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000696260.1:n.2103_2105del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907727"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1552,
          "referenceAllele": "ACT",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000289081.8:c.1288_1290del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289081.3:p.Tyr430del",
        "hgvsWellDefined": "ENSP00000289081.3:p.Tyr430del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743967",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289081.8:c.1288_1290del"
          },
          "RefSeq": {
            "hgvs": "NM_000136.3:c.1288_1290del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289081.3:p.Tyr430del"
          },
          "RefSeq": {
            "hgvs": "NP_000127.2:p.Tyr430del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1494,
          "referenceAllele": "ACT",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000375305.6:c.1288_1290del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364454.1:p.Tyr430del",
        "hgvsWellDefined": "ENSP00000364454.1:p.Tyr430del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751590"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1514,
          "referenceAllele": "ACT",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000490972.7:c.1288_1290del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479931.1:p.Tyr430del",
        "hgvsWellDefined": "ENSP00000479931.1:p.Tyr430del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757658"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1435,
          "referenceAllele": "ACT",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000649334.1:c.1433_1435del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497735.1:n.1433_1435del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770483"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1545,
          "referenceAllele": "ACT",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000289081.7:c.1288_1290del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289081.3:p.Tyr430del",
        "hgvsWellDefined": "ENSP00000289081.3:p.Tyr430del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253552"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1465,
          "referenceAllele": "ACT",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000375305.5:c.1288_1290del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364454.1:p.Tyr430del",
        "hgvsWellDefined": "ENSP00000364454.1:p.Tyr430del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270650"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 617,
          "referenceAllele": "ACT",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000464627.5:n.615_617del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308411"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 645,
          "referenceAllele": "ACT",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000477942.5:n.643_645del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318645"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 475,
          "referenceAllele": "ACT",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000480712.5:n.473_475del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320797"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1552,
          "referenceAllele": "ACT",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000490972.6:c.1288_1290del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479931.1:p.Tyr430del",
        "hgvsWellDefined": "ENSP00000479931.1:p.Tyr430del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328683"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658660791",
      "coordinates": [
        {
          "allele": "",
          "end": 1552,
          "referenceAllele": "ACT",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_000136.2:c.1288_1290del",
        "LRG_497t1:c.1288_1290del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000127.2:p.Tyr430del",
        "hgvsWellDefined": "NP_000127.2:p.Tyr430del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006198"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826331729",
      "coordinates": [
        {
          "allele": "",
          "end": 1494,
          "referenceAllele": "ACT",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243743.1:c.1288_1290del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230672.1:p.Tyr430del",
        "hgvsWellDefined": "NP_001230672.1:p.Tyr430del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139694859",
      "coordinates": [
        {
          "allele": "",
          "end": 1552,
          "referenceAllele": "ACT",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243744.1:c.1288_1290del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230673.1:p.Tyr430del",
        "hgvsWellDefined": "NP_001230673.1:p.Tyr430del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018580"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1654,
          "referenceAllele": "ACT",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_005251802.2:c.607_609del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251859.1:p.Tyr203del",
        "hgvsWellDefined": "XP_005251859.1:p.Tyr203del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059679"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1387,
          "referenceAllele": "ACT",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717001.1:c.1123_1125del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717064.1:p.Tyr375del",
        "hgvsWellDefined": "XP_006717064.1:p.Tyr375del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071945"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1552,
          "referenceAllele": "ACT",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717002.2:c.1288_1290del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717065.1:p.Tyr430del",
        "hgvsWellDefined": "XP_006717065.1:p.Tyr430del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071946"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1527,
          "referenceAllele": "ACT",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518365.1:c.1288_1290del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516667.1:p.Tyr430del",
        "hgvsWellDefined": "XP_011516667.1:p.Tyr430del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085539"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1552,
          "referenceAllele": "ACT",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518366.1:c.1288_1290del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516668.1:p.Tyr430del",
        "hgvsWellDefined": "XP_011516668.1:p.Tyr430del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085540"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1610,
          "referenceAllele": "ACT",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518367.1:c.832_834del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516669.1:p.Tyr278del",
        "hgvsWellDefined": "XP_011516669.1:p.Tyr278del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085541"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2602,
          "endIntronDirection": "+",
          "endIntronOffset": 30728,
          "referenceAllele": "TAG",
          "start": 2602,
          "startIntronDirection": "+",
          "startIntronOffset": 30725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001361",
      "geneNCBI_id": 84909,
      "geneSymbol": "AOPEP",
      "hgvs": [
        "XM_011519121.1:c.2319+30726_2319+30728del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517423.1:n.2319+30726_2319+30728del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086294"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1654,
          "referenceAllele": "ACT",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_005251802.3:c.607_609del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251859.1:p.Tyr203del",
        "hgvsWellDefined": "XP_005251859.1:p.Tyr203del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533672"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1387,
          "referenceAllele": "ACT",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717001.3:c.1123_1125del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717064.1:p.Tyr375del",
        "hgvsWellDefined": "XP_006717064.1:p.Tyr375del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539304"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1552,
          "referenceAllele": "ACT",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717002.4:c.1288_1290del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717065.1:p.Tyr430del",
        "hgvsWellDefined": "XP_006717065.1:p.Tyr430del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3361,
          "referenceAllele": "ACT",
          "start": 3358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518365.3:c.1288_1290del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516667.1:p.Tyr430del",
        "hgvsWellDefined": "XP_011516667.1:p.Tyr430del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544881"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1552,
          "referenceAllele": "ACT",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518366.3:c.1288_1290del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516668.1:p.Tyr430del",
        "hgvsWellDefined": "XP_011516668.1:p.Tyr430del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544882"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1664,
          "referenceAllele": "ACT",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518367.2:c.832_834del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516669.1:p.Tyr278del",
        "hgvsWellDefined": "XP_011516669.1:p.Tyr278del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544883"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2537,
          "endIntronDirection": "+",
          "endIntronOffset": 30728,
          "referenceAllele": "TAG",
          "start": 2537,
          "startIntronDirection": "+",
          "startIntronOffset": 30725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001361",
      "geneNCBI_id": 84909,
      "geneSymbol": "AOPEP",
      "hgvs": [
        "XM_011519121.3:c.2319+30726_2319+30728del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517423.1:n.2319+30726_2319+30728del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545231"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1681,
          "referenceAllele": "ACT",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014452.2:c.832_834del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869941.1:p.Tyr278del",
        "hgvsWellDefined": "XP_016869941.1:p.Tyr278del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567418"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1626,
          "referenceAllele": "ACT",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014453.1:c.832_834del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869942.1:p.Tyr278del",
        "hgvsWellDefined": "XP_016869942.1:p.Tyr278del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567419"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1553,
          "referenceAllele": "ACT",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014454.1:c.667_669del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869943.1:p.Tyr223del",
        "hgvsWellDefined": "XP_016869943.1:p.Tyr223del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567420"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1526,
          "referenceAllele": "ACT",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_024447451.1:c.1288_1290del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303219.1:p.Tyr430del",
        "hgvsWellDefined": "XP_024303219.1:p.Tyr430del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658660791",
      "coordinates": [
        {
          "allele": "",
          "end": 1552,
          "referenceAllele": "ACT",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_000136.3:c.1288_1290del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000127.2:p.Tyr430del",
        "hgvsWellDefined": "NP_000127.2:p.Tyr430del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674720",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289081.8:c.1288_1290del"
          },
          "RefSeq": {
            "hgvs": "NM_000136.3:c.1288_1290del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289081.3:p.Tyr430del"
          },
          "RefSeq": {
            "hgvs": "NP_000127.2:p.Tyr430del"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826331729",
      "coordinates": [
        {
          "allele": "",
          "end": 1494,
          "referenceAllele": "ACT",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243743.2:c.1288_1290del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230672.1:p.Tyr430del",
        "hgvsWellDefined": "NP_001230672.1:p.Tyr430del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714504"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139694859",
      "coordinates": [
        {
          "allele": "",
          "end": 1552,
          "referenceAllele": "ACT",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243744.2:c.1288_1290del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230673.1:p.Tyr430del",
        "hgvsWellDefined": "NP_001230673.1:p.Tyr430del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714505"
    }
  ],
  "type": "nucleotide"
}