{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580092131",
  "communityStandardTitle": [
    "NM_016373.4(WWOX):c.843_844delinsCG (p.Pro282Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2079185[alleleid]",
        "alleleId": 2079185,
        "preferredName": "NM_016373.4(WWOX):c.843_844delinsCG (p.Pro282Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2032823",
        "RCV": [
          "RCV002881461"
        ],
        "variationId": 2032823
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2507630216",
        "rs": 2507630216
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "CG",
          "end": 78432540,
          "referenceAllele": "TC",
          "start": 78432538
        }
      ],
      "hgvs": [
        "NC_000016.10:g.78432539_78432540delinsCG",
        "CM000678.2:g.78432539_78432540delinsCG"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "CG",
          "end": 78466437,
          "referenceAllele": "TC",
          "start": 78466435
        }
      ],
      "hgvs": [
        "NC_000016.9:g.78466436_78466437delinsCG",
        "CM000678.1:g.78466436_78466437delinsCG"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "CG",
          "end": 77023938,
          "referenceAllele": "TC",
          "start": 77023936
        }
      ],
      "hgvs": [
        "NC_000016.8:g.77023937_77023938delinsCG"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 337887,
          "referenceAllele": "TC",
          "start": 337885
        }
      ],
      "hgvs": [
        "NG_011698.1:g.337886_337887delinsCG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001907"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 1223,
          "referenceAllele": "TC",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000627394.3:c.843_844delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485925.2:p.Pro282Ala",
        "hgvsWellDefined": "ENSP00000485925.2:p.Pro282Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826610"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 1223,
          "referenceAllele": "TC",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000683929.1:c.843_844delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507689.1:p.Pro282Ala",
        "hgvsWellDefined": "ENSP00000507689.1:p.Pro282Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828895"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 1223,
          "referenceAllele": "TC",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000684632.1:n.1222_1223delinsCG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829583"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 969,
          "referenceAllele": "TC",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000566780.6:c.843_844delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457230.1:p.Pro282Ala",
        "hgvsWellDefined": "ENSP00000457230.1:p.Pro282Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760503",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000566780.6:c.843_844delinsCG"
          },
          "RefSeq": {
            "hgvs": "NM_016373.4:c.843_844delinsCG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000457230.1:p.Pro282Ala"
          },
          "RefSeq": {
            "hgvs": "NP_057457.1:p.Pro282Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 534,
          "endIntronDirection": "+",
          "endIntronOffset": 317386,
          "referenceAllele": "TC",
          "start": 534,
          "startIntronDirection": "+",
          "startIntronOffset": 317384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000402655.6:c.409+317385_409+317386delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384238.2:n.409+317385_409+317386delinsCG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279584"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 641,
          "endIntronDirection": "+",
          "endIntronOffset": 268251,
          "referenceAllele": "TC",
          "start": 641,
          "startIntronDirection": "+",
          "startIntronOffset": 268249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000406884.6:c.516+268250_516+268251delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384495.2:n.516+268250_516+268251delinsCG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280763"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 929,
          "referenceAllele": "TC",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000408984.7:c.843_844delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386161.3:p.Pro282Ala",
        "hgvsWellDefined": "ENSP00000386161.3:p.Pro282Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281162"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 534,
          "endIntronDirection": "+",
          "endIntronOffset": 317386,
          "referenceAllele": "TC",
          "start": 534,
          "startIntronDirection": "+",
          "startIntronOffset": 317384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000539474.6:c.409+317385_409+317386delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445210.2:n.409+317385_409+317386delinsCG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361878"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 532,
          "referenceAllele": "TC",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000562639.5:n.531_532delinsCG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376920"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 1210,
          "referenceAllele": "TC",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000566780.5:c.843_844delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457230.1:p.Pro282Ala",
        "hgvsWellDefined": "ENSP00000457230.1:p.Pro282Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379680"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 932,
          "referenceAllele": "TC",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000569332.5:c.*640_*641delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454788.1:n.*640_*641delinsCG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381404"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 238,
          "referenceAllele": "TC",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000620008.1:c.237_238delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482648.1:p.Pro80Ala",
        "hgvsWellDefined": "ENSP00000482648.1:p.Pro80Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826816146",
      "coordinates": [
        {
          "allele": "CG",
          "end": 1145,
          "referenceAllele": "TC",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "NM_001291997.1:c.504_505delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278926.1:p.Pro169Ala",
        "hgvsWellDefined": "NP_001278926.1:p.Pro169Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024427"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645497245",
      "coordinates": [
        {
          "allele": "CG",
          "end": 1210,
          "referenceAllele": "TC",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "NM_016373.3:c.843_844delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_057457.1:p.Pro282Ala",
        "hgvsWellDefined": "NP_057457.1:p.Pro282Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034655"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 969,
          "referenceAllele": "TC",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_006721195.2:c.843_844delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721258.1:p.Pro282Ala",
        "hgvsWellDefined": "XP_006721258.1:p.Pro282Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073983"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 969,
          "referenceAllele": "TC",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_011523100.1:c.843_844delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521402.1:p.Pro282Ala",
        "hgvsWellDefined": "XP_011521402.1:p.Pro282Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090240"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 969,
          "referenceAllele": "TC",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_011523101.1:c.843_844delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521403.1:p.Pro282Ala",
        "hgvsWellDefined": "XP_011521403.1:p.Pro282Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090241"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 969,
          "referenceAllele": "TC",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_011523102.1:c.843_844delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521404.1:p.Pro282Ala",
        "hgvsWellDefined": "XP_011521404.1:p.Pro282Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090242"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 969,
          "referenceAllele": "TC",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_011523103.1:c.843_844delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521405.1:p.Pro282Ala",
        "hgvsWellDefined": "XP_011521405.1:p.Pro282Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090243"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 969,
          "referenceAllele": "TC",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_011523104.1:c.843_844delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521406.1:p.Pro282Ala",
        "hgvsWellDefined": "XP_011521406.1:p.Pro282Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090244"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 3418,
          "endIntronDirection": "-",
          "endIntronOffset": 1725,
          "referenceAllele": "GA",
          "start": 3418,
          "startIntronDirection": "-",
          "startIntronOffset": 1727
        }
      ],
      "hgvs": [
        "XR_933765.1:n.3419-1727_3419-1726delinsCG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129238"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 967,
          "referenceAllele": "TC",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_011523101.3:c.843_844delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521403.1:p.Pro282Ala",
        "hgvsWellDefined": "XP_011521403.1:p.Pro282Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546891"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 967,
          "referenceAllele": "TC",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_011523103.3:c.843_844delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521405.1:p.Pro282Ala",
        "hgvsWellDefined": "XP_011521405.1:p.Pro282Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546892"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 967,
          "referenceAllele": "TC",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_011523104.3:c.843_844delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521406.1:p.Pro282Ala",
        "hgvsWellDefined": "XP_011521406.1:p.Pro282Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546893"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645497245",
      "coordinates": [
        {
          "allele": "CG",
          "end": 969,
          "referenceAllele": "TC",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "NM_016373.4:c.843_844delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_057457.1:p.Pro282Ala",
        "hgvsWellDefined": "NP_057457.1:p.Pro282Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669107",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000566780.6:c.843_844delinsCG"
          },
          "RefSeq": {
            "hgvs": "NM_016373.4:c.843_844delinsCG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000457230.1:p.Pro282Ala"
          },
          "RefSeq": {
            "hgvs": "NP_057457.1:p.Pro282Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826816146",
      "coordinates": [
        {
          "allele": "CG",
          "end": 904,
          "referenceAllele": "TC",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "NM_001291997.2:c.504_505delinsCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278926.1:p.Pro169Ala",
        "hgvsWellDefined": "NP_001278926.1:p.Pro169Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682940"
    }
  ],
  "type": "nucleotide"
}