{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2068149553",
  "communityStandardTitle": [
    "NM_144668.6(CFAP251):c.2133+476T>A"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/493519",
        "rs": 493519
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-121959570-T-A?dataset=gnomad_r4",
        "id": "12-121959570-T-A",
        "variant": "12:121959570 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 121959570,
          "referenceAllele": "T",
          "start": 121959569
        }
      ],
      "hgvs": [
        "NC_000012.12:g.121959570T>A",
        "CM000674.2:g.121959570T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 122397476,
          "referenceAllele": "T",
          "start": 122397475
        }
      ],
      "hgvs": [
        "NC_000012.11:g.122397476T>A",
        "CM000674.1:g.122397476T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 120881859,
          "referenceAllele": "T",
          "start": 120881858
        }
      ],
      "hgvs": [
        "NC_000012.10:g.120881859T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46014,
          "referenceAllele": "T",
          "start": 46013
        }
      ],
      "hgvs": [
        "NG_021364.1:g.46014T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46014,
          "referenceAllele": "T",
          "start": 46013
        }
      ],
      "hgvs": [
        "NG_021364.2:g.46014T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673714"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2257,
          "endIntronDirection": "+",
          "endIntronOffset": 476,
          "referenceAllele": "T",
          "start": 2257,
          "startIntronDirection": "+",
          "startIntronOffset": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028506",
      "geneNCBI_id": 144406,
      "geneSymbol": "CFAP251",
      "hgvs": [
        "ENST00000288912.9:c.2133+476T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288912.4:n.2133+476T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288912.9:c.2133+476T>A"
          },
          "RefSeq": {
            "hgvs": "NM_144668.6:c.2133+476T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288912.4:n.2133+476T>A"
          },
          "RefSeq": {
            "hgvs": "NP_653269.3:n.2133+476T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2987,
          "endIntronDirection": "+",
          "endIntronOffset": 476,
          "referenceAllele": "T",
          "start": 2987,
          "startIntronDirection": "+",
          "startIntronOffset": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028506",
      "geneNCBI_id": 144406,
      "geneSymbol": "CFAP251",
      "hgvs": [
        "ENST00000288912.8:c.2133+476T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288912.4:n.2133+476T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2270,
          "endIntronDirection": "+",
          "endIntronOffset": 476,
          "referenceAllele": "T",
          "start": 2270,
          "startIntronDirection": "+",
          "startIntronOffset": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028506",
      "geneNCBI_id": 144406,
      "geneSymbol": "CFAP251",
      "hgvs": [
        "ENST00000397454.2:c.2133+476T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380595.2:n.2133+476T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2714,
          "referenceAllele": "T",
          "start": 2713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028506",
      "geneNCBI_id": 144406,
      "geneSymbol": "CFAP251",
      "hgvs": [
        "ENST00000535257.1:n.2714T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2305,
          "endIntronDirection": "+",
          "endIntronOffset": 476,
          "referenceAllele": "T",
          "start": 2305,
          "startIntronDirection": "+",
          "startIntronOffset": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028506",
      "geneNCBI_id": 144406,
      "geneSymbol": "CFAP251",
      "hgvs": [
        "NM_001178003.1:c.2133+476T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171474.1:n.2133+476T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2292,
          "endIntronDirection": "+",
          "endIntronOffset": 476,
          "referenceAllele": "T",
          "start": 2292,
          "startIntronDirection": "+",
          "startIntronOffset": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028506",
      "geneNCBI_id": 144406,
      "geneSymbol": "CFAP251",
      "hgvs": [
        "NM_144668.5:c.2133+476T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_653269.3:n.2133+476T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041186"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2257,
          "endIntronDirection": "+",
          "endIntronOffset": 476,
          "referenceAllele": "T",
          "start": 2257,
          "startIntronDirection": "+",
          "startIntronOffset": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028506",
      "geneNCBI_id": 144406,
      "geneSymbol": "CFAP251",
      "hgvs": [
        "NM_144668.6:c.2133+476T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_653269.3:n.2133+476T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672062",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288912.9:c.2133+476T>A"
          },
          "RefSeq": {
            "hgvs": "NM_144668.6:c.2133+476T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288912.4:n.2133+476T>A"
          },
          "RefSeq": {
            "hgvs": "NP_653269.3:n.2133+476T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2270,
          "endIntronDirection": "+",
          "endIntronOffset": 476,
          "referenceAllele": "T",
          "start": 2270,
          "startIntronDirection": "+",
          "startIntronOffset": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028506",
      "geneNCBI_id": 144406,
      "geneSymbol": "CFAP251",
      "hgvs": [
        "NM_001178003.2:c.2133+476T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171474.1:n.2133+476T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678910"
    }
  ],
  "type": "nucleotide"
}