{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1239823986",
  "communityStandardTitle": [
    "NM_194248.3(OTOF):c.5960C= (p.Pro1987=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356606",
        "rs": 80356606
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 26460059,
          "referenceAllele": "G",
          "start": 26460058
        }
      ],
      "hgvs": [
        "NC_000002.12:g.26460059G=",
        "CM000664.2:g.26460059G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 26682927,
          "referenceAllele": "G",
          "start": 26682926
        }
      ],
      "hgvs": [
        "NC_000002.11:g.26682927G=",
        "CM000664.1:g.26682927G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 26536431,
          "referenceAllele": "G",
          "start": 26536430
        }
      ],
      "hgvs": [
        "NC_000002.10:g.26536431G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 103640,
          "referenceAllele": "C",
          "start": 103639
        }
      ],
      "hgvs": [
        "NG_009937.1:g.103640C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001703"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6145,
          "referenceAllele": "C",
          "start": 6144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000272371.7:c.5960C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272371.2:p.Pro1987="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272371.7:c.5960C="
          },
          "RefSeq": {
            "hgvs": "NM_194248.3:c.5960C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272371.2:p.Pro1987="
          },
          "RefSeq": {
            "hgvs": "NP_919224.1:p.Pro1987="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3820,
          "endIntronDirection": "+",
          "endIntronOffset": 588,
          "referenceAllele": "C",
          "start": 3820,
          "startIntronDirection": "+",
          "startIntronOffset": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000339598.8:c.3512+588C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344521.3:n.3512+588C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747833",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339598.8:c.3512+588C="
          },
          "RefSeq": {
            "hgvs": "NM_194323.3:c.3512+588C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344521.3:n.3512+588C="
          },
          "RefSeq": {
            "hgvs": "NP_919304.1:n.3512+588C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4039,
          "referenceAllele": "C",
          "start": 4038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000402415.8:c.3719C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383906.4:p.Pro1240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6087,
          "referenceAllele": "C",
          "start": 6086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000272371.6:c.5960C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272371.2:p.Pro1987="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3885,
          "referenceAllele": "C",
          "start": 3884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000338581.10:c.3659C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345137.6:p.Pro1220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3738,
          "endIntronDirection": "+",
          "endIntronOffset": 588,
          "referenceAllele": "C",
          "start": 3738,
          "startIntronDirection": "+",
          "startIntronOffset": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000339598.7:c.3512+588C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344521.3:n.3512+588C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4039,
          "referenceAllele": "C",
          "start": 4038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000402415.7:c.3890C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383906.3:p.Pro1297="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279510"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5920,
          "endIntronDirection": "+",
          "endIntronOffset": 588,
          "referenceAllele": "C",
          "start": 5920,
          "startIntronDirection": "+",
          "startIntronOffset": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000403946.7:c.5813+588C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385255.3:n.5813+588C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279939"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5940,
          "endIntronDirection": "+",
          "endIntronOffset": 588,
          "referenceAllele": "C",
          "start": 5940,
          "startIntronDirection": "+",
          "startIntronOffset": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_001287489.1:c.5813+588C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001274418.1:n.5813+588C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066520294",
      "coordinates": [
        {
          "allele": "C",
          "end": 3885,
          "referenceAllele": "C",
          "start": 3884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_004802.3:c.3659C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004793.2:p.Pro1220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6087,
          "referenceAllele": "C",
          "start": 6086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194248.2:c.5960C="
      ],
      "proteinEffect": {
        "hgvs": "NP_919224.1:p.Pro1987="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4039,
          "referenceAllele": "C",
          "start": 4038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194322.2:c.3890C="
      ],
      "proteinEffect": {
        "hgvs": "NP_919303.1:p.Pro1297="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3738,
          "endIntronDirection": "+",
          "endIntronOffset": 588,
          "referenceAllele": "C",
          "start": 3738,
          "startIntronDirection": "+",
          "startIntronOffset": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194323.2:c.3512+588C="
      ],
      "proteinEffect": {
        "hgvs": "NP_919304.1:n.3512+588C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5798,
          "endIntronDirection": "+",
          "endIntronOffset": 588,
          "referenceAllele": "C",
          "start": 5798,
          "startIntronDirection": "+",
          "startIntronOffset": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_005264644.2:c.5798+588C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264701.1:n.5798+588C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064327"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5858,
          "endIntronDirection": "+",
          "endIntronOffset": 588,
          "referenceAllele": "C",
          "start": 5858,
          "startIntronDirection": "+",
          "startIntronOffset": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_011533185.1:c.5858+588C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531487.1:n.5858+588C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5900,
          "referenceAllele": "C",
          "start": 5899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_017005338.1:c.5900C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860827.1:p.Pro1967="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5998,
          "endIntronDirection": "+",
          "endIntronOffset": 588,
          "referenceAllele": "C",
          "start": 5998,
          "startIntronDirection": "+",
          "startIntronOffset": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_001287489.2:c.5813+588C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001274418.1:n.5813+588C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682405"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066520294",
      "coordinates": [
        {
          "allele": "C",
          "end": 3967,
          "referenceAllele": "C",
          "start": 3966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_004802.4:c.3659C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004793.2:p.Pro1220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6145,
          "referenceAllele": "C",
          "start": 6144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194248.3:c.5960C="
      ],
      "proteinEffect": {
        "hgvs": "NP_919224.1:p.Pro1987="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701195",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272371.7:c.5960C="
          },
          "RefSeq": {
            "hgvs": "NM_194248.3:c.5960C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272371.2:p.Pro1987="
          },
          "RefSeq": {
            "hgvs": "NP_919224.1:p.Pro1987="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4121,
          "referenceAllele": "C",
          "start": 4120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194322.3:c.3890C="
      ],
      "proteinEffect": {
        "hgvs": "NP_919303.1:p.Pro1297="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3820,
          "endIntronDirection": "+",
          "endIntronOffset": 588,
          "referenceAllele": "C",
          "start": 3820,
          "startIntronDirection": "+",
          "startIntronOffset": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194323.3:c.3512+588C="
      ],
      "proteinEffect": {
        "hgvs": "NP_919304.1:n.3512+588C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701213",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339598.8:c.3512+588C="
          },
          "RefSeq": {
            "hgvs": "NM_194323.3:c.3512+588C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344521.3:n.3512+588C="
          },
          "RefSeq": {
            "hgvs": "NP_919304.1:n.3512+588C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}