{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA114063",
  "communityStandardTitle": [
    "NM_182758.4(WDR72):c.2348C>G (p.Ser783Ter)"
  ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15270[alleleid]",
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        "preferredName": "NM_182758.4(WDR72):c.2348C>G (p.Ser783Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/231",
        "RCV": [
          "RCV000000255"
        ],
        "variationId": 231
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.53908055G>C?assembly=hg19",
        "id": "chr15:g.53908055G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.53615858G>C?assembly=hg38",
        "id": "chr15:g.53615858G>C"
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    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/267607178",
        "rs": 267607178
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        "@id": "http://gnomad.broadinstitute.org/variant/15-53615858-G-C?dataset=gnomad_r4",
        "id": "15-53615858-G-C",
        "variant": "15:53615858 G / C"
      }
    ]
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      "chromosome": "15",
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        {
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        "CM000677.2:g.53615858G>C"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "15",
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      "referenceGenome": "NCBI36",
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    },
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    }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265158"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS277216"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS373405"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS374565"
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      "referenceSequence": "http://reg.genome.network/refseq/RS044113"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS088596"
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      "proteinEffect": {
        "hgvs": "XP_011519738.1:p.Ser777Ter",
        "hgvsWellDefined": "XP_011519738.1:p.Ser777_Ser1096delinsArgLysValAspAlaSerLeuThrIleAspThrAlaLysLeuPheLeuSerCysLeuLeuProTrpGlyValAspLysAspLeuAspTyrLeuCysIleLysHisLeuAsnIleLeuLysLeuGlnGlyProIleSerLeuGlyIleSerLeuAsnGluAspAsnPheSerLeuMetLeuProGlyTrpAspLeuCysAsnSerGlyMetIleLysAspTyrSerGlyValAsnLeuPheSerArgLysValLeuAspLeuSerAspLysTyrThrAlaThrLeuProAsnGlnValGlyIleProArgGlyLeuGluAsnAsnCysAspSerLeuArgGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088597"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2315,
          "referenceAllele": "C",
          "start": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "XM_011521437.1:c.2228C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519739.1:p.Ser743Ter",
        "hgvsWellDefined": "XP_011519739.1:p.Ser743_Ser1062delinsArgLysValAspAlaSerLeuThrIleAspThrAlaLysLeuPheLeuSerCysLeuLeuProTrpGlyValAspLysAspLeuAspTyrLeuCysIleLysHisLeuAsnIleLeuLysLeuGlnGlyProIleSerLeuGlyIleSerLeuAsnGluAspAsnPheSerLeuMetLeuProGlyTrpAspLeuCysAsnSerGlyMetIleLysAspTyrSerGlyValAsnLeuPheSerArgLysValLeuAspLeuSerAspLysTyrThrAlaThrLeuProAsnGlnValGlyIleProArgGlyLeuGluAsnAsnCysAspSerLeuArgGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2587,
          "referenceAllele": "C",
          "start": 2586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "XM_011521433.2:c.2348C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519735.1:p.Ser783Ter",
        "hgvsWellDefined": "XP_011519735.1:p.Ser783_Ser1102delinsArgLysValAspAlaSerLeuThrIleAspThrAlaLysLeuPheLeuSerCysLeuLeuProTrpGlyValAspLysAspLeuAspTyrLeuCysIleLysHisLeuAsnIleLeuLysLeuGlnGlyProIleSerLeuGlyIleSerLeuAsnGluAspAsnPheSerLeuMetLeuProGlyTrpAspLeuCysAsnSerGlyMetIleLysAspTyrSerGlyValAsnLeuPheSerArgLysValLeuAspLeuSerAspLysTyrThrAlaThrLeuProAsnGlnValGlyIleProArgGlyLeuGluAsnAsnCysAspSerLeuArgGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2441,
          "referenceAllele": "C",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "XM_011521435.2:c.2348C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519737.1:p.Ser783Ter",
        "hgvsWellDefined": "XP_011519737.1:p.Ser783_Ser1102delinsArgLysValAspAlaSerLeuThrIleAspThrAlaLysLeuPheLeuSerCysLeuLeuProTrpGlyValAspLysAspLeuAspTyrLeuCysIleLysHisLeuAsnIleLeuLysLeuGlnGlyProIleSerLeuGlyIleSerLeuAsnGluAspAsnPheSerLeuMetLeuProGlyTrpAspLeuCysAsnSerGlyMetIleLysAspTyrSerGlyValAsnLeuPheSerArgLysValLeuAspLeuSerAspLysTyrThrAlaThrLeuProAsnGlnValGlyIleProArgGlyLeuGluAsnAsnCysAspSerLeuArgGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546150"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2416,
          "referenceAllele": "C",
          "start": 2415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "XM_011521436.2:c.2330C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519738.1:p.Ser777Ter",
        "hgvsWellDefined": "XP_011519738.1:p.Ser777_Ser1096delinsArgLysValAspAlaSerLeuThrIleAspThrAlaLysLeuPheLeuSerCysLeuLeuProTrpGlyValAspLysAspLeuAspTyrLeuCysIleLysHisLeuAsnIleLeuLysLeuGlnGlyProIleSerLeuGlyIleSerLeuAsnGluAspAsnPheSerLeuMetLeuProGlyTrpAspLeuCysAsnSerGlyMetIleLysAspTyrSerGlyValAsnLeuPheSerArgLysValLeuAspLeuSerAspLysTyrThrAlaThrLeuProAsnGlnValGlyIleProArgGlyLeuGluAsnAsnCysAspSerLeuArgGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2314,
          "referenceAllele": "C",
          "start": 2313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "XM_011521437.2:c.2228C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519739.1:p.Ser743Ter",
        "hgvsWellDefined": "XP_011519739.1:p.Ser743_Ser1062delinsArgLysValAspAlaSerLeuThrIleAspThrAlaLysLeuPheLeuSerCysLeuLeuProTrpGlyValAspLysAspLeuAspTyrLeuCysIleLysHisLeuAsnIleLeuLysLeuGlnGlyProIleSerLeuGlyIleSerLeuAsnGluAspAsnPheSerLeuMetLeuProGlyTrpAspLeuCysAsnSerGlyMetIleLysAspTyrSerGlyValAsnLeuPheSerArgLysValLeuAspLeuSerAspLysTyrThrAlaThrLeuProAsnGlnValGlyIleProArgGlyLeuGluAsnAsnCysAspSerLeuArgGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546152"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2385,
          "referenceAllele": "C",
          "start": 2384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "XM_017022061.1:c.2348C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877550.1:p.Ser783Ter",
        "hgvsWellDefined": "XP_016877550.1:p.Ser783_Ser1102delinsArgLysValAspAlaSerLeuThrIleAspThrAlaLysLeuPheLeuSerCysLeuLeuProTrpGlyValAspLysAspLeuAspTyrLeuCysIleLysHisLeuAsnIleLeuLysLeuGlnGlyProIleSerLeuGlyIleSerLeuAsnGluAspAsnPheSerLeuMetLeuProGlyTrpAspLeuCysAsnSerGlyMetIleLysAspTyrSerGlyValAsnLeuPheSerArgLysValLeuAspLeuSerAspLysTyrThrAlaThrLeuProAsnGlnValGlyIleProArgGlyLeuGluAsnAsnCysAspSerLeuArgGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573112"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114064",
      "coordinates": [
        {
          "allele": "G",
          "end": 2391,
          "referenceAllele": "C",
          "start": 2390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "NM_182758.4:c.2348C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_877435.3:p.Ser783Ter",
        "hgvsWellDefined": "NP_877435.3:p.Ser783_Ser1102delinsArgLysValAspAlaSerLeuThrIleAspThrAlaLysLeuPheLeuSerCysLeuLeuProTrpGlyValAspLysAspLeuAspTyrLeuCysIleLysHisLeuAsnIleLeuLysLeuGlnGlyProIleSerLeuGlyIleSerLeuAsnGluAspAsnPheSerLeuMetLeuProGlyTrpAspLeuCysAsnSerGlyMetIleLysAspTyrSerGlyValAsnLeuPheSerArgLysValLeuAspLeuSerAspLysTyrThrAlaThrLeuProAsnGlnValGlyIleProArgGlyLeuGluAsnAsnCysAspSerLeuArgGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673020",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360509.10:c.2348C>G"
          },
          "RefSeq": {
            "hgvs": "NM_182758.4:c.2348C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353699.5:p.Ser783Ter"
          },
          "RefSeq": {
            "hgvs": "NP_877435.3:p.Ser783Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2588,
          "referenceAllele": "C",
          "start": 2587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "NR_102334.2:n.2588C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730562"
    }
  ],
  "type": "nucleotide"
}