{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043515",
  "communityStandardTitle": [
    "NM_016373.4(WWOX):c.918del (p.Glu306AspfsTer21)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361001[alleleid]",
        "alleleId": 361001,
        "preferredName": "NM_016373.4(WWOX):c.918del (p.Glu306fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373950",
        "RCV": [
          "RCV000415161",
          "RCV001198240",
          "RCV001861445"
        ],
        "variationId": 373950
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.78466511del?assembly=hg19",
        "id": "chr16:g.78466511del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.78432614del?assembly=hg38",
        "id": "chr16:g.78432614del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518795",
        "rs": 1057518795
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-78466510-AG-A?dataset=gnomad_r2_1",
        "id": "16-78466510-AG-A",
        "variant": "16:78466510 AG / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-78432613-AG-A?dataset=gnomad_r4",
        "id": "16-78432613-AG-A",
        "variant": "16:78432613 AG / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 78432614,
          "referenceAllele": "G",
          "start": 78432613
        }
      ],
      "hgvs": [
        "NC_000016.10:g.78432614del",
        "CM000678.2:g.78432614del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 78466511,
          "referenceAllele": "G",
          "start": 78466510
        }
      ],
      "hgvs": [
        "NC_000016.9:g.78466511del",
        "CM000678.1:g.78466511del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 77024012,
          "referenceAllele": "G",
          "start": 77024011
        }
      ],
      "hgvs": [
        "NC_000016.8:g.77024012del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 337961,
          "referenceAllele": "G",
          "start": 337960
        }
      ],
      "hgvs": [
        "NG_011698.1:g.337961del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001907"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1297,
          "referenceAllele": "G",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000627394.3:c.918del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485925.2:p.Glu306AspfsTer21",
        "hgvsWellDefined": "ENSP00000485925.2:p.[Glu306_Leu311delinsAspCysThrValAla;Arg314_Asn319delinsHis;Val321_Pro323del;Asn325_Asn330delinsSerArgArgThrGlnCys;His332_Trp336delinsLeuGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826610"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1297,
          "referenceAllele": "G",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000683929.1:c.918del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507689.1:p.Glu306AspfsTer21",
        "hgvsWellDefined": "ENSP00000507689.1:p.[Glu306_Leu311delinsAspCysThrValAla;Arg314_Asn319delinsHis;Val321_Pro323del;Asn325_Asn330delinsSerArgArgThrGlnCys;His332_Trp336delinsLeuGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828895"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1297,
          "referenceAllele": "G",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000684632.1:n.1297del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829583"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000566780.6:c.918del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457230.1:p.Glu306AspfsTer21",
        "hgvsWellDefined": "ENSP00000457230.1:p.[Glu306_Leu311delinsAspCysThrValAla;Arg314_Asn319delinsHis;Val321_Pro323del;Asn325_Asn330delinsSerArgArgThrGlnCys;His332_Trp336delinsLeuGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760503",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000566780.6:c.918del"
          },
          "RefSeq": {
            "hgvs": "NM_016373.4:c.918del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000457230.1:p.Glu306AspfsTer21"
          },
          "RefSeq": {
            "hgvs": "NP_057457.1:p.Glu306AspfsTer21"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 534,
          "endIntronDirection": "+",
          "endIntronOffset": 317460,
          "referenceAllele": "G",
          "start": 534,
          "startIntronDirection": "+",
          "startIntronOffset": 317459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000402655.6:c.409+317460del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384238.2:n.409+317460del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279584"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 641,
          "endIntronDirection": "+",
          "endIntronOffset": 268325,
          "referenceAllele": "G",
          "start": 641,
          "startIntronDirection": "+",
          "startIntronOffset": 268324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000406884.6:c.516+268325del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384495.2:n.516+268325del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280763"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1003,
          "referenceAllele": "G",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000408984.7:c.918del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386161.3:p.Glu306AspfsTer21",
        "hgvsWellDefined": "ENSP00000386161.3:p.[Glu306_Leu311delinsAspCysThrValAla;Arg314_Asn319delinsHis;Val321_Pro323del;Asn325_Asn330delinsSerArgArgThrGlnCys;His332_Trp336delinsLeuGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281162"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 534,
          "endIntronDirection": "+",
          "endIntronOffset": 317460,
          "referenceAllele": "G",
          "start": 534,
          "startIntronDirection": "+",
          "startIntronOffset": 317459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000539474.6:c.409+317460del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445210.2:n.409+317460del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361878"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1284,
          "referenceAllele": "G",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000566780.5:c.918del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457230.1:p.Glu306AspfsTer21",
        "hgvsWellDefined": "ENSP00000457230.1:p.[Glu306_Leu311delinsAspCysThrValAla;Arg314_Asn319delinsHis;Val321_Pro323del;Asn325_Asn330delinsSerArgArgThrGlnCys;His332_Trp336delinsLeuGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379680"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000569332.5:c.*715del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454788.1:n.*715del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381404"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 312,
          "referenceAllele": "G",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000620008.1:c.312del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482648.1:p.Glu104AspfsTer21",
        "hgvsWellDefined": "ENSP00000482648.1:p.[Glu104_Leu109delinsAspCysThrValAla;Arg112_Asn117delinsHis;Val119_Pro121del;Asn123_Asn128delinsSerArgArgThrGlnCys;His130_Trp134delinsLeuGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404623"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1219,
          "referenceAllele": "G",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "NM_001291997.1:c.579del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278926.1:p.Glu193AspfsTer21",
        "hgvsWellDefined": "NP_001278926.1:p.[Glu193_Leu198delinsAspCysThrValAla;Arg201_Asn206delinsHis;Val208_Pro210del;Asn212_Asn217delinsSerArgArgThrGlnCys;His219_Trp223delinsLeuGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024427"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1284,
          "referenceAllele": "G",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "NM_016373.3:c.918del"
      ],
      "proteinEffect": {
        "hgvs": "NP_057457.1:p.Glu306AspfsTer21",
        "hgvsWellDefined": "NP_057457.1:p.[Glu306_Leu311delinsAspCysThrValAla;Arg314_Asn319delinsHis;Val321_Pro323del;Asn325_Asn330delinsSerArgArgThrGlnCys;His332_Trp336delinsLeuGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034655"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_006721195.2:c.918del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721258.1:p.Glu306AspfsTer21",
        "hgvsWellDefined": "XP_006721258.1:p.[Glu306_Leu311delinsAspCysThrValAla;Arg314_Asn319delinsHis;Val321_Pro323del;Asn325_Asn330delinsSerArgArgThrGlnCys;His332_Trp336delinsLeuGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073983"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_011523100.1:c.918del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521402.1:p.Glu306AspfsTer21",
        "hgvsWellDefined": "XP_011521402.1:p.[Glu306_Leu311delinsAspCysThrValAla;Arg314_Asn319delinsHis;Val321_Pro323del;Asn325_Asn330delinsSerArgArgThrGlnCys;His332_Trp336delinsLeuGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090240"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_011523101.1:c.918del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521403.1:p.Glu306AspfsTer21",
        "hgvsWellDefined": "XP_011521403.1:p.[Glu306_Leu311delinsAspCysThrValAla;Arg314_Asn319delinsHis;Val321_Pro323del;Asn325_Asn330delinsSerArgArgThrGlnCys;His332_Trp336delinsLeuGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090241"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_011523102.1:c.918del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521404.1:p.Glu306AspfsTer21",
        "hgvsWellDefined": "XP_011521404.1:p.[Glu306_Leu311delinsAspCysThrValAla;Arg314_Asn319delinsHis;Val321_Pro323del;Asn325_Asn330delinsSerArgArgThrGlnCys;His332_Trp336delinsLeuGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090242"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_011523103.1:c.918del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521405.1:p.Glu306AspfsTer21",
        "hgvsWellDefined": "XP_011521405.1:p.[Glu306_Leu311delinsAspCysThrValAla;Arg314_Asn319delinsHis;Val321_Pro323del;Asn325_Asn330delinsSerArgArgThrGlnCys;His332_Trp336delinsLeuGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090243"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_011523104.1:c.918del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521406.1:p.Glu306AspfsTer21",
        "hgvsWellDefined": "XP_011521406.1:p.[Glu306_Leu311delinsAspCysThrValAla;Arg314_Asn319delinsHis;Val321_Pro323del;Asn325_Asn330delinsSerArgArgThrGlnCys;His332_Trp336delinsLeuGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090244"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3418,
          "endIntronDirection": "+",
          "endIntronOffset": 1706,
          "referenceAllele": "C",
          "start": 3418,
          "startIntronDirection": "+",
          "startIntronOffset": 1705
        }
      ],
      "hgvs": [
        "XR_933765.1:n.3418+1706del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129238"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1041,
          "referenceAllele": "G",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_011523101.3:c.918del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521403.1:p.Glu306AspfsTer21",
        "hgvsWellDefined": "XP_011521403.1:p.[Glu306_Leu311delinsAspCysThrValAla;Arg314_Asn319delinsHis;Val321_Pro323del;Asn325_Asn330delinsSerArgArgThrGlnCys;His332_Trp336delinsLeuGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546891"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1041,
          "referenceAllele": "G",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_011523103.3:c.918del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521405.1:p.Glu306AspfsTer21",
        "hgvsWellDefined": "XP_011521405.1:p.[Glu306_Leu311delinsAspCysThrValAla;Arg314_Asn319delinsHis;Val321_Pro323del;Asn325_Asn330delinsSerArgArgThrGlnCys;His332_Trp336delinsLeuGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546892"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1041,
          "referenceAllele": "G",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_011523104.3:c.918del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521406.1:p.Glu306AspfsTer21",
        "hgvsWellDefined": "XP_011521406.1:p.[Glu306_Leu311delinsAspCysThrValAla;Arg314_Asn319delinsHis;Val321_Pro323del;Asn325_Asn330delinsSerArgArgThrGlnCys;His332_Trp336delinsLeuGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546893"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "NM_016373.4:c.918del"
      ],
      "proteinEffect": {
        "hgvs": "NP_057457.1:p.Glu306AspfsTer21",
        "hgvsWellDefined": "NP_057457.1:p.[Glu306_Leu311delinsAspCysThrValAla;Arg314_Asn319delinsHis;Val321_Pro323del;Asn325_Asn330delinsSerArgArgThrGlnCys;His332_Trp336delinsLeuGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669107",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000566780.6:c.918del"
          },
          "RefSeq": {
            "hgvs": "NM_016373.4:c.918del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000457230.1:p.Glu306AspfsTer21"
          },
          "RefSeq": {
            "hgvs": "NP_057457.1:p.Glu306AspfsTer21"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 978,
          "referenceAllele": "G",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "NM_001291997.2:c.579del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278926.1:p.Glu193AspfsTer21",
        "hgvsWellDefined": "NP_001278926.1:p.[Glu193_Leu198delinsAspCysThrValAla;Arg201_Asn206delinsHis;Val208_Pro210del;Asn212_Asn217delinsSerArgArgThrGlnCys;His219_Trp223delinsLeuGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682940"
    }
  ],
  "type": "nucleotide"
}