{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1857640078",
  "communityStandardTitle": [
    "NM_001330691.3(CEP78):c.893-1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517694",
        "rs": 1057517694
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 78248290,
          "referenceAllele": "G",
          "start": 78248289
        }
      ],
      "hgvs": [
        "NC_000009.12:g.78248290G=",
        "CM000671.2:g.78248290G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 80863206,
          "referenceAllele": "G",
          "start": 80863205
        }
      ],
      "hgvs": [
        "NC_000009.11:g.80863206G=",
        "CM000671.1:g.80863206G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 80053026,
          "referenceAllele": "G",
          "start": 80053025
        }
      ],
      "hgvs": [
        "NC_000009.10:g.80053026G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 17229,
          "referenceAllele": "G",
          "start": 17228
        }
      ],
      "hgvs": [
        "NG_053171.1:g.17229G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617451"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1036,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1036,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000376597.9:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365782.4:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 892,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 892,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000376598.3:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365783.3:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751791"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 946,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 946,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000642214.1:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493662.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1198,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1198,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000642654.1:c.*688-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495267.1:n.*688-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766862"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 973,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 973,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000642669.1:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495681.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1168,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000643273.2:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496423.2:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767190",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643273.2:c.893-1G="
          },
          "RefSeq": {
            "hgvs": "NM_001330691.3:c.893-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496423.2:n.893-1G="
          },
          "RefSeq": {
            "hgvs": "NP_001317620.1:n.893-1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1171,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1171,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000643347.1:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494781.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1135,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1135,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000643499.1:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495962.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767313"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1024,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1024,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000643847.1:c.779-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494276.1:n.779-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 909,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 909,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000644208.1:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493600.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1178,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1178,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000645398.1:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493822.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1146,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1146,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000645865.1:c.*615-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494841.1:n.*615-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768580"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 834,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000646288.1:c.835-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496131.1:n.835-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768799"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 927,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 927,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000647130.1:c.928-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496303.1:n.928-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1163,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1163,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000647199.1:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496384.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1011,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1011,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000277082.9:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000277082.5:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1036,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1036,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000376597.8:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365782.4:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 892,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 892,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000376598.2:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365783.2:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1081,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1081,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000415759.6:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399286.2:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284134"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1181,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000424347.6:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411284.2:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 463,
          "endIntronDirection": "+",
          "endIntronOffset": 11687,
          "referenceAllele": "G",
          "start": 463,
          "startIntronDirection": "+",
          "startIntronOffset": 11686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000476652.2:n.463+11687G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1218,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1218,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "ENST00000536374.1:n.1219-1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1168,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "NM_001098802.1:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001092272.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1168,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "NM_032171.1:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_115547.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1181,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "XM_005252263.3:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005252320.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059878"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1181,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "XM_005252265.1:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005252322.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1213,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1213,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "XM_005252266.3:c.632-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005252323.1:n.632-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059880"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1181,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "NM_001098802.2:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001092272.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511290"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1181,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "NM_001330691.2:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317620.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1181,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "NM_001330693.2:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317622.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517025"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1181,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "NM_001330694.1:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317623.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517026"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1181,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "NM_001349838.1:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001336767.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518970"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1181,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "NM_001349839.1:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001336768.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518971"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1181,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "NM_001349840.1:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001336769.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518972"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1181,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "NM_032171.2:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_115547.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1175,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1175,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "XM_005252266.4:c.632-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005252323.1:n.632-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1175,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1175,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "XM_017015196.1:c.632-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870685.1:n.632-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567972"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1168,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "NM_001098802.3:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001092272.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1168,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "NM_001330691.3:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317620.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687069",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643273.2:c.893-1G="
          },
          "RefSeq": {
            "hgvs": "NM_001330691.3:c.893-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496423.2:n.893-1G="
          },
          "RefSeq": {
            "hgvs": "NP_001317620.1:n.893-1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1168,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "NM_001330693.3:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317622.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1168,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "NM_001330694.2:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317623.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687072"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1168,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "NM_001349838.2:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001336767.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688109"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1168,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "NM_001349839.2:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001336768.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688110"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1168,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "NM_001349840.2:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001336769.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688111"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1168,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "NM_032171.3:c.893-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_115547.1:n.893-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699047"
    }
  ],
  "type": "nucleotide"
}