{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA266092641",
  "communityStandardTitle": [
    "NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1428713[alleleid]",
        "alleleId": 1428713,
        "preferredName": "NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1453431",
        "RCV": [
          "RCV002563635",
          "RCV003387539"
        ],
        "variationId": 1453431
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.97342422G>A?assembly=hg19",
        "id": "chr14:g.97342422G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.96876085G>A?assembly=hg38",
        "id": "chr14:g.96876085G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/184887106",
        "rs": 184887106
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-97342422-G-A?dataset=gnomad_r2_1",
        "id": "14-97342422-G-A",
        "variant": "14:97342422 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-96876085-G-A?dataset=gnomad_r3",
        "id": "14-96876085-G-A",
        "variant": "14:96876085 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-96876085-G-A?dataset=gnomad_r4",
        "id": "14-96876085-G-A",
        "variant": "14:96876085 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 96876085,
          "referenceAllele": "G",
          "start": 96876084
        }
      ],
      "hgvs": [
        "NC_000014.9:g.96876085G>A",
        "CM000676.2:g.96876085G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 97342422,
          "referenceAllele": "G",
          "start": 97342421
        }
      ],
      "hgvs": [
        "NC_000014.8:g.97342422G>A",
        "CM000676.1:g.97342422G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 96412175,
          "referenceAllele": "G",
          "start": 96412174
        }
      ],
      "hgvs": [
        "NC_000014.7:g.96412175G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 83739,
          "referenceAllele": "G",
          "start": 83738
        }
      ],
      "hgvs": [
        "NG_016293.1:g.83739G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003083"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000216639.8:c.1124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216639.3:p.Trp375Ter",
        "hgvsWellDefined": "ENSP00000216639.3:p.Trp375_Lys396delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740327",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216639.8:c.1124G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003384.3:c.1124G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216639.3:p.Trp375Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003375.1:p.Trp375Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1273,
          "referenceAllele": "G",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000553683.2:c.1124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451412.2:p.Trp375Ter",
        "hgvsWellDefined": "ENSP00000451412.2:p.Trp375_Lys420delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerGluGluSerGlnGlyAlaIleHisArgSerMetSerGlnProGluAlaSerSerSerSerTyrAspSerSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11178,
          "referenceAllele": "G",
          "start": 11177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000555067.2:n.11178G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1120,
          "referenceAllele": "G",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000679365.1:c.1115G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505882.1:p.Trp372Ter",
        "hgvsWellDefined": "ENSP00000505882.1:p.Trp372_Leu442delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgGlyProHisGluArgCysGlyValLeuIleThrGlyLeuProGlyAspTyrGlyIleSerSerGlyLeuThrAspThrGlnArgProGlyAlaProGlyHisHisIleProAspMetSerThrCysAlaLysCysIleHisSerSerIleLeuAspGluPheThrGluHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1164,
          "referenceAllele": "G",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000679462.1:c.1159G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506011.1:p.Gly387Ser",
        "hgvsWellDefined": "ENSP00000506011.1:p.Gly387Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3183,
          "referenceAllele": "G",
          "start": 3182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000679506.1:n.3183G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1220,
          "referenceAllele": "G",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000679533.1:c.*897G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505873.1:n.*897G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "referenceAllele": "G",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000679650.1:c.*813G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505156.1:n.*813G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779278"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1203,
          "referenceAllele": "G",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000679727.1:c.1118G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505844.1:p.Trp373Ter",
        "hgvsWellDefined": "ENSP00000505844.1:p.Trp373_Lys394delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "endIntronDirection": "+",
          "endIntronOffset": 15350,
          "referenceAllele": "G",
          "start": 1147,
          "startIntronDirection": "+",
          "startIntronOffset": 15349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000679758.1:c.1068+15350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505539.1:n.1068+15350G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "G",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000679770.1:c.1124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505214.1:p.Trp375Ter",
        "hgvsWellDefined": "ENSP00000505214.1:p.Trp375_Leu448delinsSerAsnThrGlnThrGluGluAlaIleGlnThrLeuArgSerProLysGluGlnTyrIleGluAlaCysLeuSerGlnArgLeuAlaAlaAlaAlaMetThrValGlnGluProGluArgGluSerArgSerAsnSerAspAlaValAsnGlnIleSerPheSerLeuPheSerPheAspPhePheLeuLeuPheTyrLeuAsnCysPheIlePheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779395"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000679816.1:c.1124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506525.1:p.Trp375Ter",
        "hgvsWellDefined": "ENSP00000506525.1:p.Trp375_Lys396delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 427,
          "referenceAllele": "G",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000679843.1:c.427G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506467.1:n.427G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779465"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1180,
          "referenceAllele": "G",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000679903.1:c.1115G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506022.1:p.Trp372Ter",
        "hgvsWellDefined": "ENSP00000506022.1:p.Trp372_Lys393delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779525"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1299,
          "referenceAllele": "G",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000679918.1:c.1124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505439.1:p.Trp375Ter",
        "hgvsWellDefined": "ENSP00000505439.1:p.Trp375_Lys420delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerGluGluSerGlnGlyAlaIleHisArgSerMetSerGlnProGluAlaSerSerSerSerTyrAspSerSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "endIntronDirection": "+",
          "endIntronOffset": 15350,
          "referenceAllele": "G",
          "start": 1124,
          "startIntronDirection": "+",
          "startIntronOffset": 15349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000679941.1:c.1068+15350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506520.1:n.1068+15350G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779563"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1194,
          "referenceAllele": "G",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000679977.1:c.*370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504897.1:n.*370G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779599"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1203,
          "referenceAllele": "G",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000680007.1:c.1124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505683.1:p.Trp375Ter",
        "hgvsWellDefined": "ENSP00000505683.1:p.Trp375_Lys420delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerGluGluSerGlnGlyAlaIleHisArgSerMetSerGlnProGluAlaSerSerSerSerTyrAspSerSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1141,
          "endIntronDirection": "+",
          "endIntronOffset": 15350,
          "referenceAllele": "G",
          "start": 1141,
          "startIntronDirection": "+",
          "startIntronOffset": 15349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000680335.1:c.1068+15350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505806.1:n.1068+15350G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1194,
          "referenceAllele": "G",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000680387.1:c.1121G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504908.1:p.Trp374Ter",
        "hgvsWellDefined": "ENSP00000504908.1:p.Trp374_Leu444delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgGlyProHisGluArgCysGlyValLeuIleThrGlyLeuProGlyAspTyrGlyIleSerSerGlyLeuThrAspThrGlnArgProGlyAlaProGlyHisHisIleProAspMetSerThrCysAlaLysCysIleHisSerSerIleLeuAspGluPheThrGluHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 844,
          "endIntronDirection": "+",
          "endIntronOffset": 15421,
          "referenceAllele": "G",
          "start": 844,
          "startIntronDirection": "+",
          "startIntronOffset": 15420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000680526.1:c.*587+15421G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505595.1:n.*587+15421G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1173,
          "referenceAllele": "G",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000680538.1:c.1034G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505611.1:p.Trp345Ter",
        "hgvsWellDefined": "ENSP00000505611.1:p.Trp345_Lys366delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1197,
          "referenceAllele": "G",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000680683.1:c.1124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506334.1:p.Trp375Ter",
        "hgvsWellDefined": "ENSP00000506334.1:p.Trp375_Lys403delinsSerAsnThrGlnThrGluGluAlaIleGlnThrLeuSerLeuIlePheLeuGlnGlySerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1129,
          "referenceAllele": "G",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000680724.1:c.1124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504891.1:p.Trp375Ter",
        "hgvsWellDefined": "ENSP00000504891.1:p.Trp375_Asp395delinsSerAsnThrGlnThrGluGluAlaIleGlnThrHisLeuGluProGluThrLeuAsnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2570,
          "referenceAllele": "G",
          "start": 2569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000680756.1:c.1124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506648.1:p.Trp375Ter",
        "hgvsWellDefined": "ENSP00000506648.1:p.Trp375_Lys396delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1169,
          "referenceAllele": "G",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000680849.1:c.1121G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505602.1:p.Trp374Ter",
        "hgvsWellDefined": "ENSP00000505602.1:p.Trp374_Lys395delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1073,
          "endIntronDirection": "-",
          "endIntronOffset": 5091,
          "referenceAllele": "G",
          "start": 1073,
          "startIntronDirection": "-",
          "startIntronOffset": 5092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000680851.1:c.1069-5092G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505159.1:n.1069-5092G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780465"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1013,
          "endIntronDirection": "+",
          "endIntronOffset": 15350,
          "referenceAllele": "G",
          "start": 1013,
          "startIntronDirection": "+",
          "startIntronOffset": 15349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000680922.1:c.*212+15350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506480.1:n.*212+15350G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 991,
          "endIntronDirection": "+",
          "endIntronOffset": 15350,
          "referenceAllele": "G",
          "start": 991,
          "startIntronDirection": "+",
          "startIntronOffset": 15349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000680993.1:c.*432+15350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505511.1:n.*432+15350G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 692,
          "endIntronDirection": "+",
          "endIntronOffset": 15350,
          "referenceAllele": "G",
          "start": 692,
          "startIntronDirection": "+",
          "startIntronOffset": 15349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000681061.1:c.692+15350G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1185,
          "referenceAllele": "G",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000681101.1:c.1124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506564.1:p.Trp375Ter",
        "hgvsWellDefined": "ENSP00000506564.1:p.Trp375_Thr413delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgGlyProHisGluArgCysGlyValLeuIleThrGlyLeuProGlyAspGlnAsnCysLeuLeuAsnAlaIleMetThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1229,
          "referenceAllele": "G",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000681195.1:c.1121G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504933.1:p.Trp374Ter",
        "hgvsWellDefined": "ENSP00000504933.1:p.Trp374_Lys395delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2084,
          "referenceAllele": "G",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000681249.1:c.1121G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506013.1:p.Trp374Ter",
        "hgvsWellDefined": "ENSP00000506013.1:p.Trp374_Lys395delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1495,
          "referenceAllele": "G",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000681344.1:c.1124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506151.1:p.Trp375Ter",
        "hgvsWellDefined": "ENSP00000506151.1:p.Trp375_Lys396delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1344,
          "referenceAllele": "G",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000681355.1:c.1124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506214.1:p.Trp375Ter",
        "hgvsWellDefined": "ENSP00000506214.1:p.Trp375_Lys396delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1414,
          "referenceAllele": "G",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000681363.1:c.*224G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505564.1:n.*224G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780973"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1185,
          "referenceAllele": "G",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000681419.1:c.1124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505512.1:p.Trp375Ter",
        "hgvsWellDefined": "ENSP00000505512.1:p.Trp375_Ala393delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgLysLeuAsnSerPheAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1018,
          "referenceAllele": "G",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000681474.1:c.*36G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505569.1:n.*36G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1165,
          "referenceAllele": "G",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000681493.1:c.1118G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506429.1:p.Trp373Ter",
        "hgvsWellDefined": "ENSP00000506429.1:p.Trp373_Lys394delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1109,
          "referenceAllele": "G",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000681524.1:c.*268G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505783.1:n.*268G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1330,
          "referenceAllele": "G",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000681538.1:c.*293G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506662.1:n.*293G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 889,
          "endIntronDirection": "+",
          "endIntronOffset": 15350,
          "referenceAllele": "G",
          "start": 889,
          "startIntronDirection": "+",
          "startIntronOffset": 15349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000681598.1:c.*537+15350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506128.1:n.*537+15350G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 748,
          "referenceAllele": "G",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000681677.1:c.748G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781282"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000681695.1:c.*714G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506225.1:n.*714G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1109,
          "endIntronDirection": "+",
          "endIntronOffset": 15350,
          "referenceAllele": "G",
          "start": 1109,
          "startIntronDirection": "+",
          "startIntronOffset": 15349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000681778.1:c.1068+15350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506049.1:n.1068+15350G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1273,
          "referenceAllele": "G",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000216639.7:c.1124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216639.3:p.Trp375Ter",
        "hgvsWellDefined": "ENSP00000216639.3:p.Trp375_Lys396delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "referenceAllele": "G",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000553683.1:c.57G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000555067.1:n.354G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "endIntronDirection": "+",
          "endIntronOffset": 15350,
          "referenceAllele": "G",
          "start": 637,
          "startIntronDirection": "+",
          "startIntronOffset": 15349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "ENST00000557222.5:c.637+15350G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372847"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573229543",
      "coordinates": [
        {
          "allele": "A",
          "end": 1230,
          "referenceAllele": "G",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "NM_003384.2:c.1124G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003375.1:p.Trp375Ter",
        "hgvsWellDefined": "NP_003375.1:p.Trp375_Lys396delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1192,
          "referenceAllele": "G",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "XM_006720247.2:c.1124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720310.1:p.Trp375Ter",
        "hgvsWellDefined": "XP_006720310.1:p.Trp375_Lys420delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerGluGluSerGlnGlyAlaIleHisArgSerMetSerGlnProGluAlaSerSerSerSerTyrAspSerSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1126,
          "referenceAllele": "G",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "XM_011537132.1:c.1121G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535434.1:p.Trp374Ter",
        "hgvsWellDefined": "XP_011535434.1:p.Trp374_Lys419delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerGluGluSerGlnGlyAlaIleHisArgSerMetSerGlnProGluAlaSerSerSerSerTyrAspSerSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1192,
          "referenceAllele": "G",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "XM_006720247.4:c.1124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720310.1:p.Trp375Ter",
        "hgvsWellDefined": "XP_006720310.1:p.Trp375_Lys420delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerGluGluSerGlnGlyAlaIleHisArgSerMetSerGlnProGluAlaSerSerSerSerTyrAspSerSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1189,
          "referenceAllele": "G",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "XM_017021624.2:c.1121G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877113.1:p.Trp374Ter",
        "hgvsWellDefined": "XP_016877113.1:p.Trp374_Lys395delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1309,
          "referenceAllele": "G",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "XM_017021625.1:c.1130G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877114.1:p.Trp377Ter",
        "hgvsWellDefined": "XP_016877114.1:p.Trp377_Lys398delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572775"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "G",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "XR_001750539.2:n.1071G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597768"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573229543",
      "coordinates": [
        {
          "allele": "A",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012718",
      "geneNCBI_id": 7443,
      "geneSymbol": "VRK1",
      "hgvs": [
        "NM_003384.3:c.1124G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003375.1:p.Trp375Ter",
        "hgvsWellDefined": "NP_003375.1:p.Trp375_Lys396delinsSerAsnThrGlnThrGluGluAlaIleGlnThrArgSerArgThrArgLysArgValGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666018",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216639.8:c.1124G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003384.3:c.1124G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216639.3:p.Trp375Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003375.1:p.Trp375Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}