{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA130362",
  "communityStandardTitle": [
    "NM_018706.7(DHTKD1):c.1228C>T (p.Arg410Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48164[alleleid]",
        "alleleId": 48164,
        "preferredName": "NM_018706.7(DHTKD1):c.1228C>T (p.Arg410Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39565",
        "RCV": [
          "RCV000032765",
          "RCV003447100"
        ],
        "variationId": 39565
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-12136140-C-T",
        "id": "10-12136140-C-T",
        "variant": "10:12136140 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.12136140C>T?assembly=hg19",
        "id": "chr10:g.12136140C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.12094141C>T?assembly=hg38",
        "id": "chr10:g.12094141C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397514534",
        "rs": 397514534
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-12136140-C-T?dataset=gnomad_r2_1",
        "id": "10-12136140-C-T",
        "variant": "10:12136140 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-12094141-C-T?dataset=gnomad_r3",
        "id": "10-12094141-C-T",
        "variant": "10:12094141 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-12094141-C-T?dataset=gnomad_r4",
        "id": "10-12094141-C-T",
        "variant": "10:12094141 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 12094141,
          "referenceAllele": "C",
          "start": 12094140
        }
      ],
      "hgvs": [
        "NC_000010.11:g.12094141C>T",
        "CM000672.2:g.12094141C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 12136140,
          "referenceAllele": "C",
          "start": 12136139
        }
      ],
      "hgvs": [
        "NC_000010.10:g.12136140C>T",
        "CM000672.1:g.12136140C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 12176146,
          "referenceAllele": "C",
          "start": 12176145
        }
      ],
      "hgvs": [
        "NC_000010.9:g.12176146C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30225,
          "referenceAllele": "C",
          "start": 30224
        }
      ],
      "hgvs": [
        "NG_033248.1:g.30225C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005490"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1308,
          "referenceAllele": "C",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023537",
      "geneNCBI_id": 55526,
      "geneSymbol": "DHTKD1",
      "hgvs": [
        "ENST00000263035.9:c.1228C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000263035.4:p.Arg410_Ala919delinsLeuAlaPheGluTyrGlnArgGlnPheArgLysAspValIleIleAspLeuLeuCysTyrArgGlnTrpGlyHisAsnGluLeuAspGluProPheTyrThrAsnProIleMetTyrLysIleIleArgAlaArgLysSerIleProAspThrTyrAlaGluHisLeuIleAlaGlyGlyLeuMetThrGlnGluGluValSerGluIleLysSerSerTyrTyrAlaLysLeuAsnAspHisLeuAsnAsnMetAlaHisTyrArgProProAlaLeuAsnLeuGlnAlaHisTrpGlnGlyLeuAlaGlnProGluAlaGlnIleThrThrTrpSerThrGlyValProLeuAspLeuLeuArgPheValGlyMetLysSerValGluValProArgGluLeuGlnMetHisSerHisLeuLeuLysThrHisValGlnSerArgMetGluLysMetMetAspGlyIleLysLeuAspTrpAlaThrAlaGluAlaLeuAlaLeuGlySerLeuLeuAlaGlnGlyPheAsnValArgLeuSerGlyGlnAspValGlyArgGlyThrPheSerGlnArgHisAlaIleValValCysGlnGluThrAspAspThrTyrIleProLeuAsnHisMetAspProAsnGlnLysGlyPheLeuGluValSerAsnSerProLeuSerGluGluAlaValLeuGlyPheGluTyrGlyMetSerIleGluSerProLysLeuLeuProLeuTrpGluAlaGlnPheGlyAspPhePheAsnGlyAlaGlnIleIlePheAspThrPheIleSerGlyGlyGluAlaLysTrpLeuLeuGlnSerGlyIleValIleLeuLeuProHisGlyTyrAspGlyAlaGlyProAspHisSerSerCysArgIleGluArgPheLeuGlnMetCysAspSerAlaGluGluGlyValAspGlyAspThrValAsnMetPheValValHisProThrThrProAlaGlnTyrPheHisLeuLeuArgArgGlnMetValArgAsnPheArgLysProLeuIleValAlaSerProLysMetLeuLeuArgLeuProAlaAlaValSerThrLeuGlnGluMetAlaProGlyThrThrPheAsnProValIleGlyAspSerSerValAspProLysLysValLysThrLeuValPheCysSerGlyLysHisPheTyrSerLeuValLysGlnArgGluSerLeuGlyAlaLysLysHisAspPheAlaIleIleArgValGluGluLeuCysProPheProLeuAspSerLeuGlnGlnGluMetSerLysTyrLysHisValLysAspHisIleTrpSerGlnGluGluProGlnAsnMetGlyProTrpSerPheValSerProArgPheGluLysGlnLeuAlaCysLysLeuArgLeuValGlyArgProProLeuProValProAlaValGlyIleGlyThrValHisLeuHisGlnHisGluAspIleLeuAlaLysThrPheAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263035.9:c.1228C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018706.7:c.1228C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263035.4:p.Arg410Ter"
          },
          "RefSeq": {
            "hgvs": "NP_061176.4:p.Arg410Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1290,
          "referenceAllele": "C",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023537",
      "geneNCBI_id": 55526,
      "geneSymbol": "DHTKD1",
      "hgvs": [
        "ENST00000263035.8:c.1228C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000263035.4:p.Arg410_Ala919delinsLeuAlaPheGluTyrGlnArgGlnPheArgLysAspValIleIleAspLeuLeuCysTyrArgGlnTrpGlyHisAsnGluLeuAspGluProPheTyrThrAsnProIleMetTyrLysIleIleArgAlaArgLysSerIleProAspThrTyrAlaGluHisLeuIleAlaGlyGlyLeuMetThrGlnGluGluValSerGluIleLysSerSerTyrTyrAlaLysLeuAsnAspHisLeuAsnAsnMetAlaHisTyrArgProProAlaLeuAsnLeuGlnAlaHisTrpGlnGlyLeuAlaGlnProGluAlaGlnIleThrThrTrpSerThrGlyValProLeuAspLeuLeuArgPheValGlyMetLysSerValGluValProArgGluLeuGlnMetHisSerHisLeuLeuLysThrHisValGlnSerArgMetGluLysMetMetAspGlyIleLysLeuAspTrpAlaThrAlaGluAlaLeuAlaLeuGlySerLeuLeuAlaGlnGlyPheAsnValArgLeuSerGlyGlnAspValGlyArgGlyThrPheSerGlnArgHisAlaIleValValCysGlnGluThrAspAspThrTyrIleProLeuAsnHisMetAspProAsnGlnLysGlyPheLeuGluValSerAsnSerProLeuSerGluGluAlaValLeuGlyPheGluTyrGlyMetSerIleGluSerProLysLeuLeuProLeuTrpGluAlaGlnPheGlyAspPhePheAsnGlyAlaGlnIleIlePheAspThrPheIleSerGlyGlyGluAlaLysTrpLeuLeuGlnSerGlyIleValIleLeuLeuProHisGlyTyrAspGlyAlaGlyProAspHisSerSerCysArgIleGluArgPheLeuGlnMetCysAspSerAlaGluGluGlyValAspGlyAspThrValAsnMetPheValValHisProThrThrProAlaGlnTyrPheHisLeuLeuArgArgGlnMetValArgAsnPheArgLysProLeuIleValAlaSerProLysMetLeuLeuArgLeuProAlaAlaValSerThrLeuGlnGluMetAlaProGlyThrThrPheAsnProValIleGlyAspSerSerValAspProLysLysValLysThrLeuValPheCysSerGlyLysHisPheTyrSerLeuValLysGlnArgGluSerLeuGlyAlaLysLysHisAspPheAlaIleIleArgValGluGluLeuCysProPheProLeuAspSerLeuGlnGlnGluMetSerLysTyrLysHisValLysAspHisIleTrpSerGlnGluGluProGlnAsnMetGlyProTrpSerPheValSerProArgPheGluLysGlnLeuAlaCysLysLeuArgLeuValGlyArgProProLeuProValProAlaValGlyIleGlyThrValHisLeuHisGlnHisGluAspIleLeuAlaLysThrPheAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 322,
          "referenceAllele": "C",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023537",
      "geneNCBI_id": 55526,
      "geneSymbol": "DHTKD1",
      "hgvs": [
        "ENST00000415935.1:c.322C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400625.1:p.Arg108Ter",
        "hgvsWellDefined": "ENSP00000400625.1:p.Arg108_Pro161del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023537",
      "geneNCBI_id": 55526,
      "geneSymbol": "DHTKD1",
      "hgvs": [
        "ENST00000465617.1:n.368C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA130363",
      "coordinates": [
        {
          "allele": "T",
          "end": 1345,
          "referenceAllele": "C",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023537",
      "geneNCBI_id": 55526,
      "geneSymbol": "DHTKD1",
      "hgvs": [
        "NM_018706.6:c.1228C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061176.3:p.Arg410Ter",
        "hgvsWellDefined": "NP_061176.3:p.Arg410_Ala919delinsLeuAlaPheGluTyrGlnArgGlnPheArgLysAspValIleIleAspLeuLeuCysTyrArgGlnTrpGlyHisAsnGluLeuAspGluProPheTyrThrAsnProIleMetTyrLysIleIleArgAlaArgLysSerIleProAspThrTyrAlaGluHisLeuIleAlaGlyGlyLeuMetThrGlnGluGluValSerGluIleLysSerSerTyrTyrAlaLysLeuAsnAspHisLeuAsnAsnMetAlaHisTyrArgProProAlaLeuAsnLeuGlnAlaHisTrpGlnGlyLeuAlaGlnProGluAlaGlnIleThrThrTrpSerThrGlyValProLeuAspLeuLeuArgPheValGlyMetLysSerValGluValProArgGluLeuGlnMetHisSerHisLeuLeuLysThrHisValGlnSerArgMetGluLysMetMetAspGlyIleLysLeuAspTrpAlaThrAlaGluAlaLeuAlaLeuGlySerLeuLeuAlaGlnGlyPheAsnValArgLeuSerGlyGlnAspValGlyArgGlyThrPheSerGlnArgHisAlaIleValValCysGlnGluThrAspAspThrTyrIleProLeuAsnHisMetAspProAsnGlnLysGlyPheLeuGluValSerAsnSerProLeuSerGluGluAlaValLeuGlyPheGluTyrGlyMetSerIleGluSerProLysLeuLeuProLeuTrpGluAlaGlnPheGlyAspPhePheAsnGlyAlaGlnIleIlePheAspThrPheIleSerGlyGlyGluAlaLysTrpLeuLeuGlnSerGlyIleValIleLeuLeuProHisGlyTyrAspGlyAlaGlyProAspHisSerSerCysArgIleGluArgPheLeuGlnMetCysAspSerAlaGluGluGlyValAspGlyAspThrValAsnMetPheValValHisProThrThrProAlaGlnTyrPheHisLeuLeuArgArgGlnMetValArgAsnPheArgLysProLeuIleValAlaSerProLysMetLeuLeuArgLeuProAlaAlaValSerThrLeuGlnGluMetAlaProGlyThrThrPheAsnProValIleGlyAspSerSerValAspProLysLysValLysThrLeuValPheCysSerGlyLysHisPheTyrSerLeuValLysGlnArgGluSerLeuGlyAlaLysLysHisAspPheAlaIleIleArgValGluGluLeuCysProPheProLeuAspSerLeuGlnGlnGluMetSerLysTyrLysHisValLysAspHisIleTrpSerGlnGluGluProGlnAsnMetGlyProTrpSerPheValSerProArgPheGluLysGlnLeuAlaCysLysLeuArgLeuValGlyArgProProLeuProValProAlaValGlyIleGlyThrValHisLeuHisGlnHisGluAspIleLeuAlaLysThrPheAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035872"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916067528",
      "coordinates": [
        {
          "allele": "T",
          "end": 1308,
          "referenceAllele": "C",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023537",
      "geneNCBI_id": 55526,
      "geneSymbol": "DHTKD1",
      "hgvs": [
        "NM_018706.7:c.1228C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061176.4:p.Arg410Ter",
        "hgvsWellDefined": "NP_061176.4:p.Arg410_Ala919delinsLeuAlaPheGluTyrGlnArgGlnPheArgLysAspValIleIleAspLeuLeuCysTyrArgGlnTrpGlyHisAsnGluLeuAspGluProPheTyrThrAsnProIleMetTyrLysIleIleArgAlaArgLysSerIleProAspThrTyrAlaGluHisLeuIleAlaGlyGlyLeuMetThrGlnGluGluValSerGluIleLysSerSerTyrTyrAlaLysLeuAsnAspHisLeuAsnAsnMetAlaHisTyrArgProProAlaLeuAsnLeuGlnAlaHisTrpGlnGlyLeuAlaGlnProGluAlaGlnIleThrThrTrpSerThrGlyValProLeuAspLeuLeuArgPheValGlyMetLysSerValGluValProArgGluLeuGlnMetHisSerHisLeuLeuLysThrHisValGlnSerArgMetGluLysMetMetAspGlyIleLysLeuAspTrpAlaThrAlaGluAlaLeuAlaLeuGlySerLeuLeuAlaGlnGlyPheAsnValArgLeuSerGlyGlnAspValGlyArgGlyThrPheSerGlnArgHisAlaIleValValCysGlnGluThrAspAspThrTyrIleProLeuAsnHisMetAspProAsnGlnLysGlyPheLeuGluValSerAsnSerProLeuSerGluGluAlaValLeuGlyPheGluTyrGlyMetSerIleGluSerProLysLeuLeuProLeuTrpGluAlaGlnPheGlyAspPhePheAsnGlyAlaGlnIleIlePheAspThrPheIleSerGlyGlyGluAlaLysTrpLeuLeuGlnSerGlyIleValIleLeuLeuProHisGlyTyrAspGlyAlaGlyProAspHisSerSerCysArgIleGluArgPheLeuGlnMetCysAspSerAlaGluGluGlyValAspGlyAspThrValAsnMetPheValValHisProThrThrProAlaGlnTyrPheHisLeuLeuArgArgGlnMetValArgAsnPheArgLysProLeuIleValAlaSerProLysMetLeuLeuArgLeuProAlaAlaValSerThrLeuGlnGluMetAlaProGlyThrThrPheAsnProValIleGlyAspSerSerValAspProLysLysValLysThrLeuValPheCysSerGlyLysHisPheTyrSerLeuValLysGlnArgGluSerLeuGlyAlaLysLysHisAspPheAlaIleIleArgValGluGluLeuCysProPheProLeuAspSerLeuGlnGlnGluMetSerLysTyrLysHisValLysAspHisIleTrpSerGlnGluGluProGlnAsnMetGlyProTrpSerPheValSerProArgPheGluLysGlnLeuAlaCysLysLeuArgLeuValGlyArgProProLeuProValProAlaValGlyIleGlyThrValHisLeuHisGlnHisGluAspIleLeuAlaLysThrPheAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263035.9:c.1228C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018706.7:c.1228C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263035.4:p.Arg410Ter"
          },
          "RefSeq": {
            "hgvs": "NP_061176.4:p.Arg410Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}