{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1140117546",
  "communityStandardTitle": [
    "NM_016343.4(CENPF):c.-42+2763A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7366282",
        "rs": 7366282
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 214606084,
          "referenceAllele": "A",
          "start": 214606083
        }
      ],
      "hgvs": [
        "NC_000001.11:g.214606084A=",
        "CM000663.2:g.214606084A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 214779427,
          "referenceAllele": "A",
          "start": 214779426
        }
      ],
      "hgvs": [
        "NC_000001.10:g.214779427A=",
        "CM000663.1:g.214779427A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 212846050,
          "referenceAllele": "A",
          "start": 212846049
        }
      ],
      "hgvs": [
        "NC_000001.9:g.212846050A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7906,
          "referenceAllele": "A",
          "start": 7905
        }
      ],
      "hgvs": [
        "NG_046787.1:g.7906A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616412"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 137,
          "endIntronDirection": "+",
          "endIntronOffset": 2763,
          "referenceAllele": "A",
          "start": 137,
          "startIntronDirection": "+",
          "startIntronOffset": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001857",
      "geneNCBI_id": 1063,
      "geneSymbol": "CENPF",
      "hgvs": [
        "ENST00000706764.1:n.137+2763A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 127,
          "endIntronDirection": "+",
          "endIntronOffset": 2763,
          "referenceAllele": "A",
          "start": 127,
          "startIntronDirection": "+",
          "startIntronOffset": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001857",
      "geneNCBI_id": 1063,
      "geneSymbol": "CENPF",
      "hgvs": [
        "ENST00000706765.1:c.-42+2763A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516538.1:n.-42+2763A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913112"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 127,
          "endIntronDirection": "+",
          "endIntronOffset": 2763,
          "referenceAllele": "A",
          "start": 127,
          "startIntronDirection": "+",
          "startIntronOffset": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001857",
      "geneNCBI_id": 1063,
      "geneSymbol": "CENPF",
      "hgvs": [
        "ENST00000366955.8:c.-42+2763A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355922.3:n.-42+2763A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749888",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366955.8:c.-42+2763A="
          },
          "RefSeq": {
            "hgvs": "NM_016343.4:c.-42+2763A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355922.3:n.-42+2763A="
          },
          "RefSeq": {
            "hgvs": "NP_057427.3:n.-42+2763A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 127,
          "endIntronDirection": "+",
          "endIntronOffset": 2763,
          "referenceAllele": "A",
          "start": 127,
          "startIntronDirection": "+",
          "startIntronOffset": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001857",
      "geneNCBI_id": 1063,
      "geneSymbol": "CENPF",
      "hgvs": [
        "ENST00000366955.7:c.-42+2763A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355922.3:n.-42+2763A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 127,
          "endIntronDirection": "+",
          "endIntronOffset": 2763,
          "referenceAllele": "A",
          "start": 127,
          "startIntronDirection": "+",
          "startIntronOffset": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001857",
      "geneNCBI_id": 1063,
      "geneSymbol": "CENPF",
      "hgvs": [
        "ENST00000464322.5:n.127+2763A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308181"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "endIntronDirection": "+",
          "endIntronOffset": 2436,
          "referenceAllele": "A",
          "start": 165,
          "startIntronDirection": "+",
          "startIntronOffset": 2435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001857",
      "geneNCBI_id": 1063,
      "geneSymbol": "CENPF",
      "hgvs": [
        "ENST00000495259.1:n.165+2436A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 527,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034041",
      "geneNCBI_id": 648359,
      "geneSymbol": "ABHD17AP3",
      "hgvs": [
        "ENST00000503096.1:n.528-5T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335495"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 133,
          "endIntronDirection": "+",
          "endIntronOffset": 2763,
          "referenceAllele": "A",
          "start": 133,
          "startIntronDirection": "+",
          "startIntronOffset": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001857",
      "geneNCBI_id": 1063,
      "geneSymbol": "CENPF",
      "hgvs": [
        "NM_016343.3:c.-42+2763A="
      ],
      "proteinEffect": {
        "hgvs": "NP_057427.3:n.-42+2763A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 143,
          "endIntronDirection": "+",
          "endIntronOffset": 2763,
          "referenceAllele": "A",
          "start": 143,
          "startIntronDirection": "+",
          "startIntronOffset": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001857",
      "geneNCBI_id": 1063,
      "geneSymbol": "CENPF",
      "hgvs": [
        "XM_011509082.1:c.-42+2763A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507384.1:n.-42+2763A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 127,
          "endIntronDirection": "+",
          "endIntronOffset": 2763,
          "referenceAllele": "A",
          "start": 127,
          "startIntronDirection": "+",
          "startIntronOffset": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001857",
      "geneNCBI_id": 1063,
      "geneSymbol": "CENPF",
      "hgvs": [
        "XM_011509082.3:c.-42+2763A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507384.1:n.-42+2763A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 127,
          "endIntronDirection": "+",
          "endIntronOffset": 2763,
          "referenceAllele": "A",
          "start": 127,
          "startIntronDirection": "+",
          "startIntronOffset": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001857",
      "geneNCBI_id": 1063,
      "geneSymbol": "CENPF",
      "hgvs": [
        "NM_016343.4:c.-42+2763A="
      ],
      "proteinEffect": {
        "hgvs": "NP_057427.3:n.-42+2763A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669096",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366955.8:c.-42+2763A="
          },
          "RefSeq": {
            "hgvs": "NM_016343.4:c.-42+2763A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355922.3:n.-42+2763A="
          },
          "RefSeq": {
            "hgvs": "NP_057427.3:n.-42+2763A="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}