{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA259977",
  "communityStandardTitle": [
    "NM_001083961.2(WDR62):c.3936dup (p.Val1313ArgfsTer18)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39995[alleleid]",
        "alleleId": 39995,
        "preferredName": "NM_001083961.2(WDR62):c.3936dup (p.Val1313fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31038",
        "RCV": [
          "RCV000024032",
          "RCV003236770"
        ],
        "variationId": 31038
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.36594666dupC?assembly=hg19",
        "id": "chr19:g.36594666dupC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.36594660_36594661insC?assembly=hg19",
        "id": "chr19:g.36594660_36594661insC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.36103764dupC?assembly=hg38",
        "id": "chr19:g.36103764dupC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.36103758_36103759insC?assembly=hg38",
        "id": "chr19:g.36103758_36103759insC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587776900",
        "rs": 587776900
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-36594660-G-GC?dataset=gnomad_r2_1",
        "id": "19-36594660-G-GC",
        "variant": "19:36594660 G / GC"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-36103758-G-GC?dataset=gnomad_r4",
        "id": "19-36103758-G-GC",
        "variant": "19:36103758 G / GC"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 36103764,
          "referenceAllele": "",
          "start": 36103764
        }
      ],
      "hgvs": [
        "NC_000019.10:g.36103764dup",
        "CM000681.2:g.36103764dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 36594666,
          "referenceAllele": "",
          "start": 36594666
        }
      ],
      "hgvs": [
        "NC_000019.9:g.36594666dup",
        "CM000681.1:g.36594666dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 41286506,
          "referenceAllele": "",
          "start": 41286506
        }
      ],
      "hgvs": [
        "NC_000019.8:g.41286506dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 53884,
          "referenceAllele": "",
          "start": 53884
        }
      ],
      "hgvs": [
        "NG_028101.1:g.53884dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3921,
          "referenceAllele": "",
          "start": 3921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000270301.12:c.3921dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270301.6:p.Val1308ArgfsTer18",
        "hgvsWellDefined": "ENSP00000270301.6:p.[Val1308_Pro1312delinsArg;Val1314_Val1316delinsTyr;Val1319_Pro1324delinsTrpArgHisArgProCys;Pro1326_Val1327del;Glu1329_Ala1331del;Arg1333_Ser1337delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4011,
          "referenceAllele": "",
          "start": 4011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000401500.7:c.3936dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384792.1:p.Val1313ArgfsTer18",
        "hgvsWellDefined": "ENSP00000384792.1:p.[Val1313_Pro1317delinsArg;Val1319_Val1321delinsTyr;Val1324_Pro1329delinsTrpArgHisArgProCys;Pro1331_Val1332del;Glu1334_Ala1336del;Arg1338_Ser1342delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753966",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000401500.7:c.3936dup"
          },
          "RefSeq": {
            "hgvs": "NM_001083961.2:c.3936dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384792.1:p.Val1313ArgfsTer18"
          },
          "RefSeq": {
            "hgvs": "NP_001077430.1:p.Val1313ArgfsTer18"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5257,
          "referenceAllele": "",
          "start": 5257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000587391.6:c.*3796dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465525.1:n.*3796dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2016,
          "referenceAllele": "",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000679357.1:c.2016dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 701,
          "referenceAllele": "",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000679598.1:c.701dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3996,
          "referenceAllele": "",
          "start": 3996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000679682.1:c.3921dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506226.1:p.Val1308ArgfsTer18",
        "hgvsWellDefined": "ENSP00000506226.1:p.[Val1308_Pro1312delinsArg;Val1314_Val1316delinsTyr;Val1319_Pro1324delinsTrpArgHisArgProCys;Pro1326_Val1327del;Glu1329_Ala1331del;Arg1333_Ser1337delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779309"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4005,
          "referenceAllele": "",
          "start": 4005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000679714.1:c.3930dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506627.1:p.Val1311ArgfsTer18",
        "hgvsWellDefined": "ENSP00000506627.1:p.[Val1311_Pro1315delinsArg;Val1317_Val1319delinsTyr;Val1322_Pro1327delinsTrpArgHisArgProCys;Pro1329_Val1330del;Glu1332_Ala1334del;Arg1336_Ser1340delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3627,
          "referenceAllele": "",
          "start": 3627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000679757.1:c.3585dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505158.1:p.Val1196ArgfsTer18",
        "hgvsWellDefined": "ENSP00000505158.1:p.[Val1196_Pro1200delinsArg;Val1202_Val1204delinsTyr;Val1207_Pro1212delinsTrpArgHisArgProCys;Pro1214_Val1215del;Glu1217_Ala1219del;Arg1221_Ser1225delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779382"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4304,
          "referenceAllele": "",
          "start": 4304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000679858.1:c.*3318dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505655.1:n.*3318dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779480"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1350,
          "referenceAllele": "",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680211.1:c.537dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506102.1:p.Val180ArgfsTer18",
        "hgvsWellDefined": "ENSP00000506102.1:p.[Val180_Pro184delinsArg;Val186_Val188delinsTyr;Val191_Pro196delinsTrpArgHisArgProCys;Pro198_Val199del;Glu201_Ala203del;Arg205_Ser209delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1439,
          "referenceAllele": "",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680280.1:n.1439dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779900"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2585,
          "referenceAllele": "",
          "start": 2585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680349.1:n.2585dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779967"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3996,
          "referenceAllele": "",
          "start": 3996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680403.1:c.3921dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505677.1:p.Val1308ArgfsTer18",
        "hgvsWellDefined": "ENSP00000505677.1:p.[Val1308_Pro1312delinsArg;Val1314_Val1316delinsTyr;Val1319_Pro1324delinsTrpArgHisArgProCys;Pro1326_Val1327del;Glu1329_Ala1331del;Arg1333_Ser1337delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3762,
          "referenceAllele": "",
          "start": 3762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680564.1:c.3687dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505582.1:p.Val1230ArgfsTer18",
        "hgvsWellDefined": "ENSP00000505582.1:p.[Val1230_Pro1234delinsArg;Val1236_Val1238delinsTyr;Val1241_Pro1246delinsTrpArgHisArgProCys;Pro1248_Val1249del;Glu1251_Ala1253del;Arg1255_Ser1259delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780179"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3939,
          "referenceAllele": "",
          "start": 3939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680590.1:c.*2316dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505350.1:n.*2316dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 669,
          "referenceAllele": "",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680597.1:c.669dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 951,
          "referenceAllele": "",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680739.1:c.951dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780354"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2437,
          "referenceAllele": "",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680773.1:n.2437dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4549,
          "referenceAllele": "",
          "start": 4549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680806.1:c.*3239dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506418.1:n.*3239dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1868,
          "referenceAllele": "",
          "start": 1868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680997.1:n.1868dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1781,
          "referenceAllele": "",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000681608.1:n.1781dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3927,
          "referenceAllele": "",
          "start": 3927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000681625.1:c.*1268dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505555.1:n.*1268dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1451,
          "referenceAllele": "",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000681648.1:n.1451dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3921,
          "referenceAllele": "",
          "start": 3921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000270301.11:c.3921dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270301.6:p.Val1308ArgfsTer18",
        "hgvsWellDefined": "ENSP00000270301.6:p.[Val1308_Pro1312delinsArg;Val1314_Val1316delinsTyr;Val1319_Pro1324delinsTrpArgHisArgProCys;Pro1326_Val1327del;Glu1329_Ala1331del;Arg1333_Ser1337delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252237"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3971,
          "referenceAllele": "",
          "start": 3971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000401500.6:c.3936dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384792.1:p.Val1313ArgfsTer18",
        "hgvsWellDefined": "ENSP00000384792.1:p.[Val1313_Pro1317delinsArg;Val1319_Val1321delinsTyr;Val1324_Pro1329delinsTrpArgHisArgProCys;Pro1331_Val1332del;Glu1334_Ala1336del;Arg1338_Ser1342delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5257,
          "referenceAllele": "",
          "start": 5257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000587391.5:c.*3796dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465525.1:n.*3796dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4027,
          "referenceAllele": "",
          "start": 4027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "NM_001083961.1:c.3936dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077430.1:p.Val1313ArgfsTer18",
        "hgvsWellDefined": "NP_001077430.1:p.[Val1313_Pro1317delinsArg;Val1319_Val1321delinsTyr;Val1324_Pro1329delinsTrpArgHisArgProCys;Pro1331_Val1332del;Glu1334_Ala1336del;Arg1338_Ser1342delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010430"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4012,
          "referenceAllele": "",
          "start": 4012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "NM_173636.4:c.3921dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_775907.4:p.Val1308ArgfsTer18",
        "hgvsWellDefined": "NP_775907.4:p.[Val1308_Pro1312delinsArg;Val1314_Val1316delinsTyr;Val1319_Pro1324delinsTrpArgHisArgProCys;Pro1326_Val1327del;Glu1329_Ala1331del;Arg1333_Ser1337delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3916,
          "referenceAllele": "",
          "start": 3916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_005258809.2:c.3825dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258866.1:p.Val1276ArgfsTer18",
        "hgvsWellDefined": "XP_005258866.1:p.[Val1276_Pro1280delinsArg;Val1282_Val1284delinsTyr;Val1287_Pro1292delinsTrpArgHisArgProCys;Pro1294_Val1295del;Glu1297_Ala1299del;Arg1301_Ser1305delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062186"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4012,
          "referenceAllele": "",
          "start": 4012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526837.1:c.3921dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525139.1:p.Val1308ArgfsTer18",
        "hgvsWellDefined": "XP_011525139.1:p.[Val1308_Pro1312delinsArg;Val1314_Val1316delinsTyr;Val1319_Pro1324delinsTrpArgHisArgProCys;Pro1326_Val1327del;Glu1329_Ala1331del;Arg1333_Ser1337delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3778,
          "referenceAllele": "",
          "start": 3778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526838.1:c.3687dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525140.1:p.Val1230ArgfsTer18",
        "hgvsWellDefined": "XP_011525140.1:p.[Val1230_Pro1234delinsArg;Val1236_Val1238delinsTyr;Val1241_Pro1246delinsTrpArgHisArgProCys;Pro1248_Val1249del;Glu1251_Ala1253del;Arg1255_Ser1259delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3676,
          "referenceAllele": "",
          "start": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526839.1:c.3585dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525141.1:p.Val1196ArgfsTer18",
        "hgvsWellDefined": "XP_011525141.1:p.[Val1196_Pro1200delinsArg;Val1202_Val1204delinsTyr;Val1207_Pro1212delinsTrpArgHisArgProCys;Pro1214_Val1215del;Glu1217_Ala1219del;Arg1221_Ser1225delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093938"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3016,
          "referenceAllele": "",
          "start": 3016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526840.1:c.2928dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525142.1:p.Val977ArgfsTer18",
        "hgvsWellDefined": "XP_011525142.1:p.[Val977_Pro981delinsArg;Val983_Val985delinsTyr;Val988_Pro993delinsTrpArgHisArgProCys;Pro995_Val996del;Glu998_Ala1000del;Arg1002_Ser1006delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093939"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2637,
          "referenceAllele": "",
          "start": 2637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526841.1:c.2514dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525143.1:p.Val839ArgfsTer18",
        "hgvsWellDefined": "XP_011525143.1:p.[Val839_Pro843delinsArg;Val845_Val847delinsTyr;Val850_Pro855delinsTrpArgHisArgProCys;Pro857_Val858del;Glu860_Ala862del;Arg864_Ser868delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2475,
          "referenceAllele": "",
          "start": 2475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526842.1:c.2367dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525144.1:p.Val790ArgfsTer18",
        "hgvsWellDefined": "XP_011525144.1:p.[Val790_Pro794delinsArg;Val796_Val798delinsTyr;Val801_Pro806delinsTrpArgHisArgProCys;Pro808_Val809del;Glu811_Ala813del;Arg815_Ser819delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1802,
          "referenceAllele": "",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526843.1:c.1683dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525145.1:p.Val562ArgfsTer18",
        "hgvsWellDefined": "XP_011525145.1:p.[Val562_Pro566delinsArg;Val568_Val570delinsTyr;Val573_Pro578delinsTrpArgHisArgProCys;Pro580_Val581del;Glu583_Ala585del;Arg587_Ser591delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093942"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1811,
          "referenceAllele": "",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526844.1:c.1683dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525146.1:p.Val562ArgfsTer18",
        "hgvsWellDefined": "XP_011525146.1:p.[Val562_Pro566delinsArg;Val568_Val570delinsTyr;Val573_Pro578delinsTrpArgHisArgProCys;Pro580_Val581del;Glu583_Ala585del;Arg587_Ser591delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093943"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3022,
          "referenceAllele": "",
          "start": 3022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526840.2:c.2928dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525142.1:p.Val977ArgfsTer18",
        "hgvsWellDefined": "XP_011525142.1:p.[Val977_Pro981delinsArg;Val983_Val985delinsTyr;Val988_Pro993delinsTrpArgHisArgProCys;Pro995_Val996del;Glu998_Ala1000del;Arg1002_Ser1006delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548429"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2643,
          "referenceAllele": "",
          "start": 2643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526841.2:c.2514dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525143.1:p.Val839ArgfsTer18",
        "hgvsWellDefined": "XP_011525143.1:p.[Val839_Pro843delinsArg;Val845_Val847delinsTyr;Val850_Pro855delinsTrpArgHisArgProCys;Pro857_Val858del;Glu860_Ala862del;Arg864_Ser868delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548430"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1799,
          "referenceAllele": "",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526844.2:c.1683dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525146.1:p.Val562ArgfsTer18",
        "hgvsWellDefined": "XP_011525146.1:p.[Val562_Pro566delinsArg;Val568_Val570delinsTyr;Val573_Pro578delinsTrpArgHisArgProCys;Pro580_Val581del;Glu583_Ala585del;Arg587_Ser591delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548431"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4027,
          "referenceAllele": "",
          "start": 4027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_017026665.1:c.3936dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882154.1:p.Val1313ArgfsTer18",
        "hgvsWellDefined": "XP_016882154.1:p.[Val1313_Pro1317delinsArg;Val1319_Val1321delinsTyr;Val1324_Pro1329delinsTrpArgHisArgProCys;Pro1331_Val1332del;Glu1334_Ala1336del;Arg1338_Ser1342delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576763"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4011,
          "referenceAllele": "",
          "start": 4011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "NM_001083961.2:c.3936dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077430.1:p.Val1313ArgfsTer18",
        "hgvsWellDefined": "NP_001077430.1:p.[Val1313_Pro1317delinsArg;Val1319_Val1321delinsTyr;Val1324_Pro1329delinsTrpArgHisArgProCys;Pro1331_Val1332del;Glu1334_Ala1336del;Arg1338_Ser1342delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663340",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000401500.7:c.3936dup"
          },
          "RefSeq": {
            "hgvs": "NM_001083961.2:c.3936dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384792.1:p.Val1313ArgfsTer18"
          },
          "RefSeq": {
            "hgvs": "NP_001077430.1:p.Val1313ArgfsTer18"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3996,
          "referenceAllele": "",
          "start": 3996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "NM_173636.5:c.3921dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_775907.4:p.Val1308ArgfsTer18",
        "hgvsWellDefined": "NP_775907.4:p.[Val1308_Pro1312delinsArg;Val1314_Val1316delinsTyr;Val1319_Pro1324delinsTrpArgHisArgProCys;Pro1326_Val1327del;Glu1329_Ala1331del;Arg1333_Ser1337delinsProSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700622"
    }
  ],
  "type": "nucleotide"
}