{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA114065",
  "communityStandardTitle": [
    "NM_182758.4(WDR72):c.2934G>A (p.Trp978Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15271[alleleid]",
        "alleleId": 15271,
        "preferredName": "NM_182758.4(WDR72):c.2934G>A (p.Trp978Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/232",
        "RCV": [
          "RCV000000256",
          "RCV000421226"
        ],
        "variationId": 232
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-53901728-C-T",
        "id": "15-53901728-C-T",
        "variant": "15:53901728 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.53901728C>T?assembly=hg19",
        "id": "chr15:g.53901728C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.53609531C>T?assembly=hg38",
        "id": "chr15:g.53609531C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143816093",
        "rs": 143816093
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-53901728-C-T?dataset=gnomad_r2_1",
        "id": "15-53901728-C-T",
        "variant": "15:53901728 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-53609531-C-T?dataset=gnomad_r4",
        "id": "15-53609531-C-T",
        "variant": "15:53609531 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 53609531,
          "referenceAllele": "C",
          "start": 53609530
        }
      ],
      "hgvs": [
        "NC_000015.10:g.53609531C>T",
        "CM000677.2:g.53609531C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 53901728,
          "referenceAllele": "C",
          "start": 53901727
        }
      ],
      "hgvs": [
        "NC_000015.9:g.53901728C>T",
        "CM000677.1:g.53901728C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 51689020,
          "referenceAllele": "C",
          "start": 51689019
        }
      ],
      "hgvs": [
        "NC_000015.8:g.51689020C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 155132,
          "referenceAllele": "G",
          "start": 155131
        }
      ],
      "hgvs": [
        "NG_017034.2:g.155132G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003376"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2977,
          "referenceAllele": "G",
          "start": 2976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "ENST00000360509.10:c.2934G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353699.5:p.Trp978Ter",
        "hgvsWellDefined": "ENSP00000353699.5:p.Trp978_Ser1102delinsArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749324",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360509.10:c.2934G>A"
          },
          "RefSeq": {
            "hgvs": "NM_182758.4:c.2934G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353699.5:p.Trp978Ter"
          },
          "RefSeq": {
            "hgvs": "NP_877435.3:p.Trp978Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2976,
          "referenceAllele": "G",
          "start": 2975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "ENST00000360509.9:c.2934G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353699.5:p.Trp978Ter",
        "hgvsWellDefined": "ENSP00000353699.5:p.Trp978_Ser1102delinsArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3174,
          "referenceAllele": "G",
          "start": 3173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "ENST00000396328.5:c.2934G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379619.1:p.Trp978Ter",
        "hgvsWellDefined": "ENSP00000379619.1:p.Trp978_Ser1102delinsArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277216"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2985,
          "referenceAllele": "G",
          "start": 2984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "ENST00000557913.5:c.2925G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453378.1:p.Trp975Ter",
        "hgvsWellDefined": "ENSP00000453378.1:p.Trp975_Ser1099delinsArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2998,
          "referenceAllele": "G",
          "start": 2997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "ENST00000559418.5:c.2964G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452765.1:p.Trp988Ter",
        "hgvsWellDefined": "ENSP00000452765.1:p.Trp988_Ser1112delinsArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114066",
      "coordinates": [
        {
          "allele": "A",
          "end": 2976,
          "referenceAllele": "G",
          "start": 2975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "NM_182758.3:c.2934G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_877435.3:p.Trp978Ter",
        "hgvsWellDefined": "NP_877435.3:p.Trp978_Ser1102delinsArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3174,
          "referenceAllele": "G",
          "start": 3173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "NR_102334.1:n.3174G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3173,
          "referenceAllele": "G",
          "start": 3172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "XM_011521433.1:c.2934G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519735.1:p.Trp978Ter",
        "hgvsWellDefined": "XP_011519735.1:p.Trp978_Ser1102delinsArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3152,
          "referenceAllele": "G",
          "start": 3151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "XM_011521434.1:c.2934G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519736.1:p.Trp978Ter",
        "hgvsWellDefined": "XP_011519736.1:p.Trp978_Ser1102delinsArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088595"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3017,
          "referenceAllele": "G",
          "start": 3016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "XM_011521435.1:c.2934G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519737.1:p.Trp978Ter",
        "hgvsWellDefined": "XP_011519737.1:p.Trp978_Ser1102delinsArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088596"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3003,
          "referenceAllele": "G",
          "start": 3002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "XM_011521436.1:c.2916G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519738.1:p.Trp972Ter",
        "hgvsWellDefined": "XP_011519738.1:p.Trp972_Ser1096delinsArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2901,
          "referenceAllele": "G",
          "start": 2900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "XM_011521437.1:c.2814G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519739.1:p.Trp938Ter",
        "hgvsWellDefined": "XP_011519739.1:p.Trp938_Ser1062delinsArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3173,
          "referenceAllele": "G",
          "start": 3172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "XM_011521433.2:c.2934G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519735.1:p.Trp978Ter",
        "hgvsWellDefined": "XP_011519735.1:p.Trp978_Ser1102delinsArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3027,
          "referenceAllele": "G",
          "start": 3026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "XM_011521435.2:c.2934G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519737.1:p.Trp978Ter",
        "hgvsWellDefined": "XP_011519737.1:p.Trp978_Ser1102delinsArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546150"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3002,
          "referenceAllele": "G",
          "start": 3001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "XM_011521436.2:c.2916G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519738.1:p.Trp972Ter",
        "hgvsWellDefined": "XP_011519738.1:p.Trp972_Ser1096delinsArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2900,
          "referenceAllele": "G",
          "start": 2899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "XM_011521437.2:c.2814G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519739.1:p.Trp938Ter",
        "hgvsWellDefined": "XP_011519739.1:p.Trp938_Ser1062delinsArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2971,
          "referenceAllele": "G",
          "start": 2970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "XM_017022061.1:c.2934G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877550.1:p.Trp978Ter",
        "hgvsWellDefined": "XP_016877550.1:p.Trp978_Ser1102delinsArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573112"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114066",
      "coordinates": [
        {
          "allele": "A",
          "end": 2977,
          "referenceAllele": "G",
          "start": 2976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "NM_182758.4:c.2934G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_877435.3:p.Trp978Ter",
        "hgvsWellDefined": "NP_877435.3:p.Trp978_Ser1102delinsArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673020",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360509.10:c.2934G>A"
          },
          "RefSeq": {
            "hgvs": "NM_182758.4:c.2934G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353699.5:p.Trp978Ter"
          },
          "RefSeq": {
            "hgvs": "NP_877435.3:p.Trp978Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3174,
          "referenceAllele": "G",
          "start": 3173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026790",
      "geneNCBI_id": 256764,
      "geneSymbol": "WDR72",
      "hgvs": [
        "NR_102334.2:n.3174G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730562"
    }
  ],
  "type": "nucleotide"
}