{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA259978",
  "communityStandardTitle": [
    "NM_001083961.2(WDR62):c.363del (p.Asp122MetfsTer5)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39996[alleleid]",
        "alleleId": 39996,
        "preferredName": "NM_001083961.2(WDR62):c.363del (p.Asp122fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31039",
        "RCV": [
          "RCV000024033"
        ],
        "variationId": 31039
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-36556889-CT-C",
        "id": "19-36556889-CT-C",
        "variant": "19:36556889 CT / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.36556890del?assembly=hg19",
        "id": "chr19:g.36556890del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.36065988del?assembly=hg38",
        "id": "chr19:g.36065988del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587776901",
        "rs": 587776901
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-36556889-CT-C?dataset=gnomad_r2_1",
        "id": "19-36556889-CT-C",
        "variant": "19:36556889 CT / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-36065987-CT-C?dataset=gnomad_r4",
        "id": "19-36065987-CT-C",
        "variant": "19:36065987 CT / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 36065988,
          "referenceAllele": "T",
          "start": 36065987
        }
      ],
      "hgvs": [
        "NC_000019.10:g.36065988del",
        "CM000681.2:g.36065988del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 36556890,
          "referenceAllele": "T",
          "start": 36556889
        }
      ],
      "hgvs": [
        "NC_000019.9:g.36556890del",
        "CM000681.1:g.36556890del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 41248730,
          "referenceAllele": "T",
          "start": 41248729
        }
      ],
      "hgvs": [
        "NC_000019.8:g.41248730del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 16108,
          "referenceAllele": "T",
          "start": 16107
        }
      ],
      "hgvs": [
        "NG_028101.1:g.16108del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 363,
          "referenceAllele": "T",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000270301.12:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270301.6:p.Asp122MetfsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743154"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000401500.7:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384792.1:p.Asp122MetfsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753966",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000401500.7:c.363del"
          },
          "RefSeq": {
            "hgvs": "NM_001083961.2:c.363del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384792.1:p.Asp122MetfsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_001077430.1:p.Asp122MetfsTer5"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 522,
          "referenceAllele": "T",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000427823.3:c.447del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413475.4:p.Asp150MetfsTer5",
        "hgvsWellDefined": "ENSP00000413475.4:p.[Asp150Met;Lys152_Val155delinsSer;Gly157_Met179del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755196"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 372,
          "referenceAllele": "T",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000587391.6:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465525.1:p.Asp122MetfsTer5",
        "hgvsWellDefined": "ENSP00000465525.1:p.[Asp122Met;Lys124_Val127delinsSer;Gly129_Met151del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761080"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 427,
          "referenceAllele": "T",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000589953.2:n.427del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761177"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000644764.2:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494253.2:p.Asp122MetfsTer5",
        "hgvsWellDefined": "ENSP00000494253.2:p.[Asp122Met;Lys124_Val127delinsSer;Gly129_Met151del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767983"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000679682.1:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506226.1:p.Asp122MetfsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779309"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000679714.1:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506627.1:p.Asp122MetfsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779341"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 405,
          "referenceAllele": "T",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000679757.1:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505158.1:p.Asp122MetfsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779382"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 389,
          "referenceAllele": "T",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000679858.1:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505655.1:p.Asp122MetfsTer5",
        "hgvsWellDefined": "ENSP00000505655.1:p.[Asp122Met;Lys124_Val127delinsSer;Gly129_Met151del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779480"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680321.1:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505525.1:p.Asp122MetfsTer5",
        "hgvsWellDefined": "ENSP00000505525.1:p.[Asp122Met;Lys124_Val127delinsSer;Gly129_Met151del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779939"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680359.1:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506079.1:p.Asp122MetfsTer5",
        "hgvsWellDefined": "ENSP00000506079.1:p.[Asp122Met;Lys124_Val127delinsSer;Gly129_Met151del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779977"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680403.1:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505677.1:p.Asp122MetfsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780021"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 686,
          "referenceAllele": "T",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680489.1:n.686del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780105"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680564.1:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505582.1:p.Asp122MetfsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780179"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680590.1:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505350.1:p.Asp122MetfsTer5",
        "hgvsWellDefined": "ENSP00000505350.1:p.[Asp122Met;Lys124_Val127delinsSer;Gly129_Met151del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780205"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 395,
          "referenceAllele": "T",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000680806.1:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506418.1:p.Asp122MetfsTer5",
        "hgvsWellDefined": "ENSP00000506418.1:p.[Asp122Met;Lys124_Val127delinsSer;Gly129_Met151del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780421"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000681542.1:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505251.1:p.Asp122MetfsTer5",
        "hgvsWellDefined": "ENSP00000505251.1:p.[Asp122Met;Lys124_Val127delinsSer;Gly129_Met151del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781148"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 373,
          "referenceAllele": "T",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000681625.1:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505555.1:p.Asp122MetfsTer5",
        "hgvsWellDefined": "ENSP00000505555.1:p.[Asp122Met;Lys124_Val127delinsSer;Gly129_Met151del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781231"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 414,
          "referenceAllele": "T",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000681809.1:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505740.1:p.Asp122MetfsTer5",
        "hgvsWellDefined": "ENSP00000505740.1:p.[Asp122Met;Lys124_Gln135del;Pro137_Val140del;Thr142Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781411"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 363,
          "referenceAllele": "T",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000270301.11:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270301.6:p.Asp122MetfsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252237"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 454,
          "referenceAllele": "T",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000378860.8:n.454del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS272232"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 398,
          "referenceAllele": "T",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000401500.6:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384792.1:p.Asp122MetfsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279248"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 429,
          "referenceAllele": "T",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000427823.2:c.429del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413475.3:p.Asp144MetfsTer5",
        "hgvsWellDefined": "ENSP00000413475.3:p.[Asp144Met;Lys146_Val149delinsSer;Gly151_Met173del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289895"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 372,
          "referenceAllele": "T",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "ENST00000587391.5:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465525.1:p.Asp122MetfsTer5",
        "hgvsWellDefined": "ENSP00000465525.1:p.[Asp122Met;Lys124_Val127delinsSer;Gly129_Met151del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390046"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 454,
          "referenceAllele": "T",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "NM_001083961.1:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077430.1:p.Asp122MetfsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010430"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 454,
          "referenceAllele": "T",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "NM_173636.4:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "NP_775907.4:p.Asp122MetfsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042964"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 454,
          "referenceAllele": "T",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_005258809.2:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258866.1:p.Asp122MetfsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062186"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 454,
          "referenceAllele": "T",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526837.1:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525139.1:p.Asp122MetfsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093936"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 454,
          "referenceAllele": "T",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526838.1:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525140.1:p.Asp122MetfsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093937"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 454,
          "referenceAllele": "T",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_011526839.1:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525141.1:p.Asp122MetfsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093938"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 454,
          "referenceAllele": "T",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XM_017026665.1:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882154.1:p.Asp122MetfsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576763"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 454,
          "referenceAllele": "T",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XR_001753671.1:n.454del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600143"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 454,
          "referenceAllele": "T",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "XR_001753672.1:n.454del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600144"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "NM_001083961.2:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077430.1:p.Asp122MetfsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663340",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000401500.7:c.363del"
          },
          "RefSeq": {
            "hgvs": "NM_001083961.2:c.363del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384792.1:p.Asp122MetfsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_001077430.1:p.Asp122MetfsTer5"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024502",
      "geneNCBI_id": 284403,
      "geneSymbol": "WDR62",
      "hgvs": [
        "NM_173636.5:c.363del"
      ],
      "proteinEffect": {
        "hgvs": "NP_775907.4:p.Asp122MetfsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700622"
    }
  ],
  "type": "nucleotide"
}