{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA273658",
  "communityStandardTitle": [
    "NM_194248.3(OTOF):c.2977_2978del (p.Gln994ValfsTer7)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=173648[alleleid]",
        "alleleId": 173648,
        "preferredName": "NM_194248.3(OTOF):c.2977_2978del (p.Gln994fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/179828",
        "RCV": [
          "RCV000156627",
          "RCV000211839",
          "RCV002307412"
        ],
        "variationId": 179828
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-26698794-ACT-A",
        "id": "2-26698794-ACT-A",
        "variant": "2:26698794 ACT / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.26698795_26698796del?assembly=hg19",
        "id": "chr2:g.26698795_26698796del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.26475927_26475928del?assembly=hg38",
        "id": "chr2:g.26475927_26475928del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397515597",
        "rs": 397515597
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-26698794-ACT-A?dataset=gnomad_r2_1",
        "id": "2-26698794-ACT-A",
        "variant": "2:26698794 ACT / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-26475926-ACT-A?dataset=gnomad_r3",
        "id": "2-26475926-ACT-A",
        "variant": "2:26475926 ACT / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-26475926-ACT-A?dataset=gnomad_r4",
        "id": "2-26475926-ACT-A",
        "variant": "2:26475926 ACT / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 26475930,
          "referenceAllele": "CT",
          "start": 26475928
        }
      ],
      "hgvs": [
        "NC_000002.12:g.26475929_26475930del",
        "CM000664.2:g.26475929_26475930del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 26698798,
          "referenceAllele": "CT",
          "start": 26698796
        }
      ],
      "hgvs": [
        "NC_000002.11:g.26698797_26698798del",
        "CM000664.1:g.26698797_26698798del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 26552302,
          "referenceAllele": "CT",
          "start": 26552300
        }
      ],
      "hgvs": [
        "NC_000002.10:g.26552301_26552302del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 87772,
          "referenceAllele": "AG",
          "start": 87770
        }
      ],
      "hgvs": [
        "NG_009937.1:g.87771_87772del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001703"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3163,
          "referenceAllele": "AG",
          "start": 3161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000272371.7:c.2977_2978del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272371.2:p.Gln994ValfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272371.7:c.2977_2978del"
          },
          "RefSeq": {
            "hgvs": "NM_194248.3:c.2977_2978del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272371.2:p.Gln994ValfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_919224.1:p.Gln994ValfsTer7"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1045,
          "referenceAllele": "AG",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000339598.8:c.736_737del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344521.3:p.Gln247ValfsTer7",
        "hgvsWellDefined": "ENSP00000344521.3:p.[Gln247_Glu250del;Leu252_Leu269delinsHisArgGlyAla;Leu271_Ala275del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747833",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339598.8:c.736_737del"
          },
          "RefSeq": {
            "hgvs": "NM_194323.3:c.736_737del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344521.3:p.Gln247ValfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_919304.1:p.Gln247ValfsTer7"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1057,
          "referenceAllele": "AG",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000402415.8:c.736_737del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383906.4:p.Gln247ValfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3105,
          "referenceAllele": "AG",
          "start": 3103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000272371.6:c.2977_2978del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272371.2:p.Gln994ValfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252367"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 963,
          "referenceAllele": "AG",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000338581.10:c.736_737del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345137.6:p.Gln247ValfsTer7",
        "hgvsWellDefined": "ENSP00000345137.6:p.[Gln247_Glu250del;Leu252_Leu269delinsHisArgGlyAla;Leu271_Ala275del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260687"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 963,
          "referenceAllele": "AG",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000339598.7:c.736_737del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344521.3:p.Gln247ValfsTer7",
        "hgvsWellDefined": "ENSP00000344521.3:p.[Gln247_Glu250del;Leu252_Leu269delinsHisArgGlyAla;Leu271_Ala275del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260908"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1057,
          "referenceAllele": "AG",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000402415.7:c.907_908del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383906.3:p.Gln304ValfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279510"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3085,
          "referenceAllele": "AG",
          "start": 3083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000403946.7:c.2977_2978del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385255.3:p.Gln994ValfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279939"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3105,
          "referenceAllele": "AG",
          "start": 3103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_001287489.1:c.2977_2978del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274418.1:p.Gln994ValfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023354"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 963,
          "referenceAllele": "AG",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_004802.3:c.736_737del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004793.2:p.Gln247ValfsTer7",
        "hgvsWellDefined": "NP_004793.2:p.[Gln247_Glu250del;Leu252_Leu269delinsHisArgGlyAla;Leu271_Ala275del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029949"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3105,
          "referenceAllele": "AG",
          "start": 3103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194248.2:c.2977_2978del"
      ],
      "proteinEffect": {
        "hgvs": "NP_919224.1:p.Gln994ValfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044301"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1057,
          "referenceAllele": "AG",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194322.2:c.907_908del"
      ],
      "proteinEffect": {
        "hgvs": "NP_919303.1:p.Gln304ValfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044339"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 963,
          "referenceAllele": "AG",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194323.2:c.736_737del"
      ],
      "proteinEffect": {
        "hgvs": "NP_919304.1:p.Gln247ValfsTer7",
        "hgvsWellDefined": "NP_919304.1:p.[Gln247_Glu250del;Leu252_Leu269delinsHisArgGlyAla;Leu271_Ala275del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044340"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3023,
          "referenceAllele": "AG",
          "start": 3021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_005264644.2:c.3022_3023del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264701.1:p.Gln1009ValfsTer7",
        "hgvsWellDefined": "XP_005264701.1:p.[Gln1009_Glu1012del;Leu1014_Leu1031delinsHisArgGlyAla;Leu1033_Ala1037del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064327"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3023,
          "referenceAllele": "AG",
          "start": 3021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_011533185.1:c.3022_3023del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531487.1:p.Gln1009ValfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2978,
          "referenceAllele": "AG",
          "start": 2976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_017005338.1:c.2977_2978del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860827.1:p.Gln994ValfsTer7",
        "hgvsWellDefined": "XP_016860827.1:p.[Gln994_Glu997del;Leu999_Leu1016delinsHisArgGlyAla;Leu1018_Ala1022del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560624"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3163,
          "referenceAllele": "AG",
          "start": 3161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_001287489.2:c.2977_2978del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274418.1:p.Gln994ValfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682405"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1045,
          "referenceAllele": "AG",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_004802.4:c.736_737del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004793.2:p.Gln247ValfsTer7",
        "hgvsWellDefined": "NP_004793.2:p.[Gln247_Glu250del;Leu252_Leu269delinsHisArgGlyAla;Leu271_Ala275del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696245"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3163,
          "referenceAllele": "AG",
          "start": 3161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194248.3:c.2977_2978del"
      ],
      "proteinEffect": {
        "hgvs": "NP_919224.1:p.Gln994ValfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701195",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272371.7:c.2977_2978del"
          },
          "RefSeq": {
            "hgvs": "NM_194248.3:c.2977_2978del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272371.2:p.Gln994ValfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_919224.1:p.Gln994ValfsTer7"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1139,
          "referenceAllele": "AG",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194322.3:c.907_908del"
      ],
      "proteinEffect": {
        "hgvs": "NP_919303.1:p.Gln304ValfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701212"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1045,
          "referenceAllele": "AG",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194323.3:c.736_737del"
      ],
      "proteinEffect": {
        "hgvs": "NP_919304.1:p.Gln247ValfsTer7",
        "hgvsWellDefined": "NP_919304.1:p.[Gln247_Glu250del;Leu252_Leu269delinsHisArgGlyAla;Leu271_Ala275del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701213",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339598.8:c.736_737del"
          },
          "RefSeq": {
            "hgvs": "NM_194323.3:c.736_737del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344521.3:p.Gln247ValfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_919304.1:p.Gln247ValfsTer7"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}