{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344397914",
  "communityStandardTitle": [
    "NM_015375.3(DSTYK):c.1384C>T (p.Arg462Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1019272[alleleid]",
        "alleleId": 1019272,
        "preferredName": "NM_015375.3(DSTYK):c.1384C>T (p.Arg462Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1031910",
        "RCV": [
          "RCV001333861",
          "RCV003147620"
        ],
        "variationId": 1031910
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.205133024G>A?assembly=hg19",
        "id": "chr1:g.205133024G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.205163896G>A?assembly=hg38",
        "id": "chr1:g.205163896G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/77626160",
        "rs": 77626160
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-205163896-G-A?dataset=gnomad_r3",
        "id": "1-205163896-G-A",
        "variant": "1:205163896 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-205163896-G-A?dataset=gnomad_r4",
        "id": "1-205163896-G-A",
        "variant": "1:205163896 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 205163896,
          "referenceAllele": "G",
          "start": 205163895
        }
      ],
      "hgvs": [
        "NC_000001.11:g.205163896G>A",
        "CM000663.2:g.205163896G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 205133024,
          "referenceAllele": "G",
          "start": 205133023
        }
      ],
      "hgvs": [
        "NC_000001.10:g.205133024G>A",
        "CM000663.1:g.205133024G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 203399647,
          "referenceAllele": "G",
          "start": 203399646
        }
      ],
      "hgvs": [
        "NC_000001.9:g.203399647G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 52704,
          "referenceAllele": "C",
          "start": 52703
        }
      ],
      "hgvs": [
        "NG_033904.1:g.52704C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005590"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1551,
          "referenceAllele": "C",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029043",
      "geneNCBI_id": 25778,
      "geneSymbol": "DSTYK",
      "hgvs": [
        "ENST00000367162.8:c.1384C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356130.3:p.Arg462Ter",
        "hgvsWellDefined": "ENSP00000356130.3:p.Arg462_Thr929delinsGlnIleGlnGluLeuIleIleSerArgLeuAsnGlnAlaValAlaAsnLysLeuIleSerSerValAspTyrLeuArgGluSerPheValGlyThrLeuGluArgCysLeuGlnSerLeuGluLysSerGlnAspValSerValHisIleThrSerAsnTyrLeuLysGlnIleLeuAsnAlaAlaTyrHisValGluValThrPheHisSerGlySerSerValThrArgMetLeuTrpGluGlnIleLysGlnIleIleGlnArgIleThrTrpValSerProProAlaIleThrLeuGluTrpLysArgLysValAlaGlnGluAlaIleGluSerLeuSerAlaSerLysLeuAlaLysSerIleCysSerGlnPheArgThrArgLeuAsnSerSerHisGluAlaPheAlaAlaSerLeuArgGlnLeuGluAlaGlyHisSerGlyArgLeuGluLysThrGluAspLeuTrpLeuArgValArgLysAspHisAlaProArgLeuAlaArgLeuSerLeuGluSerCysSerLeuGlnAspValLeuLeuHisArgLysProLysLeuGlyGlnGluLeuGlyArgGlyGlnTyrGlyValValTyrLeuCysAspAsnTrpGlyGlyHisPheProCysAlaLeuLysSerValValProProAspGluLysHisTrpAsnAspLeuAlaLeuGluPheHisTyrMetArgSerLeuProLysHisGluArgLeuValAspLeuHisGlySerValIleAspTyrAsnTyrGlyGlyGlySerSerIleAlaValLeuLeuIleMetGluArgLeuHisArgAspLeuTyrThrGlyLeuLysAlaGlyLeuThrLeuGluThrArgLeuGlnIleAlaLeuAspValValGluGlyIleArgPheLeuHisSerGlnGlyLeuValHisArgAspIleLysLeuLysAsnValLeuLeuAspLysGlnAsnArgAlaLysIleThrAspLeuGlyPheCysLysProGluAlaMetMetSerGlySerIleValGlyThrProIleHisMetAlaProGluLeuPheThrGlyLysTyrAspAsnSerValAspValTyrAlaPheGlyIleLeuPheTrpTyrIleCysSerGlySerValLysLeuProGluAlaPheGluArgCysAlaSerLysAspHisLeuTrpAsnAsnValArgArgGlyAlaArgProGluArgLeuProValPheAspGluGluCysTrpGlnLeuMetGluAlaCysTrpAspGlyAspProLeuLysArgProLeuLeuGlyIleValGlnProMetLeuGlnGlyIleMetAsnArgLeuCysLysSerAsnSerGluGlnProAsnArgGlyLeuAspAspSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749948",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367162.8:c.1384C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015375.3:c.1384C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356130.3:p.Arg462Ter"
          },
          "RefSeq": {
            "hgvs": "NP_056190.1:p.Arg462Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1415,
          "referenceAllele": "C",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029043",
      "geneNCBI_id": 25778,
      "geneSymbol": "DSTYK",
      "hgvs": [
        "ENST00000367161.7:c.1384C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356129.3:p.Arg462Ter",
        "hgvsWellDefined": "ENSP00000356129.3:p.Arg462_Thr884delinsGlnIleGlnGluLeuIleIleSerArgLeuAsnGlnAlaValAlaAsnLysLeuIleSerSerValAspTyrLeuArgGluSerPheValGlyThrLeuGluArgCysLeuGlnSerLeuGluLysSerGlnAspValSerValHisIleThrSerAsnTyrLeuLysGlnIleLeuAsnAlaAlaTyrHisValGluValThrPheHisSerGlySerSerValThrArgMetLeuTrpGluGlnIleLysGlnIleIleGlnArgIleThrTrpValSerProProAlaIleThrLeuGluTrpLysArgLysValAlaGlnGluAlaIleGluSerLeuSerAlaSerLysLeuAlaLysSerIleCysSerGlnPheArgThrArgLeuAsnSerSerHisGluAlaPheAlaAlaSerLeuArgGlnLeuGluAlaGlyHisSerGlyArgLeuGluLysThrGluAspLeuTrpLeuArgValArgLysAspHisAlaProArgLeuAlaArgLeuSerLeuGluSerCysSerLeuGlnAspValLeuLeuHisArgLysProLysLeuGlyGlnGluLeuGlyArgGlyGlnTyrGlyValValTyrLeuCysAspAsnTrpGlyGlyHisPheProCysAlaLeuLysSerValValProProAspGluLysHisTrpAsnAspLeuAlaLeuGluPheHisTyrMetArgSerLeuProLysHisGluArgLeuValAspLeuHisGlySerValIleAspTyrAsnTyrGlyGlyGlySerSerIleAlaValLeuLeuIleMetGluArgLeuHisArgAspLeuTyrThrGlyLeuLysAlaGlyLeuThrLeuGluThrArgLeuGlnIleAlaLeuAspValValGluGlyIleArgPheLeuHisSerGlnGlyLeuValHisArgAspIleLysLeuLysAsnValLeuLeuAspLysGlnAsnArgAlaLysIleThrAspLeuGlyPheCysLysProGluAlaMetMetSerGlySerIleValGlyThrProIleHisMetAlaProGluLeuPheThrGlyAlaArgProGluArgLeuProValPheAspGluGluCysTrpGlnLeuMetGluAlaCysTrpAspGlyAspProLeuLysArgProLeuLeuGlyIleValGlnProMetLeuGlnGlyIleMetAsnArgLeuCysLysSerAsnSerGluGlnProAsnArgGlyLeuAspAspSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1415,
          "referenceAllele": "C",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029043",
      "geneNCBI_id": 25778,
      "geneSymbol": "DSTYK",
      "hgvs": [
        "ENST00000367162.7:c.1384C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356130.3:p.Arg462Ter",
        "hgvsWellDefined": "ENSP00000356130.3:p.Arg462_Thr929delinsGlnIleGlnGluLeuIleIleSerArgLeuAsnGlnAlaValAlaAsnLysLeuIleSerSerValAspTyrLeuArgGluSerPheValGlyThrLeuGluArgCysLeuGlnSerLeuGluLysSerGlnAspValSerValHisIleThrSerAsnTyrLeuLysGlnIleLeuAsnAlaAlaTyrHisValGluValThrPheHisSerGlySerSerValThrArgMetLeuTrpGluGlnIleLysGlnIleIleGlnArgIleThrTrpValSerProProAlaIleThrLeuGluTrpLysArgLysValAlaGlnGluAlaIleGluSerLeuSerAlaSerLysLeuAlaLysSerIleCysSerGlnPheArgThrArgLeuAsnSerSerHisGluAlaPheAlaAlaSerLeuArgGlnLeuGluAlaGlyHisSerGlyArgLeuGluLysThrGluAspLeuTrpLeuArgValArgLysAspHisAlaProArgLeuAlaArgLeuSerLeuGluSerCysSerLeuGlnAspValLeuLeuHisArgLysProLysLeuGlyGlnGluLeuGlyArgGlyGlnTyrGlyValValTyrLeuCysAspAsnTrpGlyGlyHisPheProCysAlaLeuLysSerValValProProAspGluLysHisTrpAsnAspLeuAlaLeuGluPheHisTyrMetArgSerLeuProLysHisGluArgLeuValAspLeuHisGlySerValIleAspTyrAsnTyrGlyGlyGlySerSerIleAlaValLeuLeuIleMetGluArgLeuHisArgAspLeuTyrThrGlyLeuLysAlaGlyLeuThrLeuGluThrArgLeuGlnIleAlaLeuAspValValGluGlyIleArgPheLeuHisSerGlnGlyLeuValHisArgAspIleLysLeuLysAsnValLeuLeuAspLysGlnAsnArgAlaLysIleThrAspLeuGlyPheCysLysProGluAlaMetMetSerGlySerIleValGlyThrProIleHisMetAlaProGluLeuPheThrGlyLysTyrAspAsnSerValAspValTyrAlaPheGlyIleLeuPheTrpTyrIleCysSerGlySerValLysLeuProGluAlaPheGluArgCysAlaSerLysAspHisLeuTrpAsnAsnValArgArgGlyAlaArgProGluArgLeuProValPheAspGluGluCysTrpGlnLeuMetGluAlaCysTrpAspGlyAspProLeuLysArgProLeuLeuGlyIleValGlnProMetLeuGlnGlyIleMetAsnArgLeuCysLysSerAsnSerGluGlnProAsnArgGlyLeuAspAspSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 357,
          "endIntronDirection": "-",
          "endIntronOffset": 144,
          "referenceAllele": "C",
          "start": 357,
          "startIntronDirection": "-",
          "startIntronOffset": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029043",
      "geneNCBI_id": 25778,
      "geneSymbol": "DSTYK",
      "hgvs": [
        "ENST00000615388.1:c.-89-145C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478016.1:n.-89-145C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402600"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829819446",
      "coordinates": [
        {
          "allele": "T",
          "end": 1448,
          "referenceAllele": "C",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029043",
      "geneNCBI_id": 25778,
      "geneSymbol": "DSTYK",
      "hgvs": [
        "NM_015375.2:c.1384C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056190.1:p.Arg462Ter",
        "hgvsWellDefined": "NP_056190.1:p.Arg462_Thr929delinsGlnIleGlnGluLeuIleIleSerArgLeuAsnGlnAlaValAlaAsnLysLeuIleSerSerValAspTyrLeuArgGluSerPheValGlyThrLeuGluArgCysLeuGlnSerLeuGluLysSerGlnAspValSerValHisIleThrSerAsnTyrLeuLysGlnIleLeuAsnAlaAlaTyrHisValGluValThrPheHisSerGlySerSerValThrArgMetLeuTrpGluGlnIleLysGlnIleIleGlnArgIleThrTrpValSerProProAlaIleThrLeuGluTrpLysArgLysValAlaGlnGluAlaIleGluSerLeuSerAlaSerLysLeuAlaLysSerIleCysSerGlnPheArgThrArgLeuAsnSerSerHisGluAlaPheAlaAlaSerLeuArgGlnLeuGluAlaGlyHisSerGlyArgLeuGluLysThrGluAspLeuTrpLeuArgValArgLysAspHisAlaProArgLeuAlaArgLeuSerLeuGluSerCysSerLeuGlnAspValLeuLeuHisArgLysProLysLeuGlyGlnGluLeuGlyArgGlyGlnTyrGlyValValTyrLeuCysAspAsnTrpGlyGlyHisPheProCysAlaLeuLysSerValValProProAspGluLysHisTrpAsnAspLeuAlaLeuGluPheHisTyrMetArgSerLeuProLysHisGluArgLeuValAspLeuHisGlySerValIleAspTyrAsnTyrGlyGlyGlySerSerIleAlaValLeuLeuIleMetGluArgLeuHisArgAspLeuTyrThrGlyLeuLysAlaGlyLeuThrLeuGluThrArgLeuGlnIleAlaLeuAspValValGluGlyIleArgPheLeuHisSerGlnGlyLeuValHisArgAspIleLysLeuLysAsnValLeuLeuAspLysGlnAsnArgAlaLysIleThrAspLeuGlyPheCysLysProGluAlaMetMetSerGlySerIleValGlyThrProIleHisMetAlaProGluLeuPheThrGlyLysTyrAspAsnSerValAspValTyrAlaPheGlyIleLeuPheTrpTyrIleCysSerGlySerValLysLeuProGluAlaPheGluArgCysAlaSerLysAspHisLeuTrpAsnAsnValArgArgGlyAlaArgProGluArgLeuProValPheAspGluGluCysTrpGlnLeuMetGluAlaCysTrpAspGlyAspProLeuLysArgProLeuLeuGlyIleValGlnProMetLeuGlnGlyIleMetAsnArgLeuCysLysSerAsnSerGluGlnProAsnArgGlyLeuAspAspSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033972"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499304566",
      "coordinates": [
        {
          "allele": "T",
          "end": 1448,
          "referenceAllele": "C",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029043",
      "geneNCBI_id": 25778,
      "geneSymbol": "DSTYK",
      "hgvs": [
        "NM_199462.2:c.1384C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_955749.1:p.Arg462Ter",
        "hgvsWellDefined": "NP_955749.1:p.Arg462_Thr884delinsGlnIleGlnGluLeuIleIleSerArgLeuAsnGlnAlaValAlaAsnLysLeuIleSerSerValAspTyrLeuArgGluSerPheValGlyThrLeuGluArgCysLeuGlnSerLeuGluLysSerGlnAspValSerValHisIleThrSerAsnTyrLeuLysGlnIleLeuAsnAlaAlaTyrHisValGluValThrPheHisSerGlySerSerValThrArgMetLeuTrpGluGlnIleLysGlnIleIleGlnArgIleThrTrpValSerProProAlaIleThrLeuGluTrpLysArgLysValAlaGlnGluAlaIleGluSerLeuSerAlaSerLysLeuAlaLysSerIleCysSerGlnPheArgThrArgLeuAsnSerSerHisGluAlaPheAlaAlaSerLeuArgGlnLeuGluAlaGlyHisSerGlyArgLeuGluLysThrGluAspLeuTrpLeuArgValArgLysAspHisAlaProArgLeuAlaArgLeuSerLeuGluSerCysSerLeuGlnAspValLeuLeuHisArgLysProLysLeuGlyGlnGluLeuGlyArgGlyGlnTyrGlyValValTyrLeuCysAspAsnTrpGlyGlyHisPheProCysAlaLeuLysSerValValProProAspGluLysHisTrpAsnAspLeuAlaLeuGluPheHisTyrMetArgSerLeuProLysHisGluArgLeuValAspLeuHisGlySerValIleAspTyrAsnTyrGlyGlyGlySerSerIleAlaValLeuLeuIleMetGluArgLeuHisArgAspLeuTyrThrGlyLeuLysAlaGlyLeuThrLeuGluThrArgLeuGlnIleAlaLeuAspValValGluGlyIleArgPheLeuHisSerGlnGlyLeuValHisArgAspIleLysLeuLysAsnValLeuLeuAspLysGlnAsnArgAlaLysIleThrAspLeuGlyPheCysLysProGluAlaMetMetSerGlySerIleValGlyThrProIleHisMetAlaProGluLeuPheThrGlyAlaArgProGluArgLeuProValPheAspGluGluCysTrpGlnLeuMetGluAlaCysTrpAspGlyAspProLeuLysArgProLeuLeuGlyIleValGlnProMetLeuGlnGlyIleMetAsnArgLeuCysLysSerAsnSerGluGlnProAsnArgGlyLeuAspAspSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1379,
          "referenceAllele": "C",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029043",
      "geneNCBI_id": 25778,
      "geneSymbol": "DSTYK",
      "hgvs": [
        "XM_011509392.1:c.1357C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507694.1:p.Arg453Ter",
        "hgvsWellDefined": "XP_011507694.1:p.Arg453_Thr920delinsGlnIleGlnGluLeuIleIleSerArgLeuAsnGlnAlaValAlaAsnLysLeuIleSerSerValAspTyrLeuArgGluSerPheValGlyThrLeuGluArgCysLeuGlnSerLeuGluLysSerGlnAspValSerValHisIleThrSerAsnTyrLeuLysGlnIleLeuAsnAlaAlaTyrHisValGluValThrPheHisSerGlySerSerValThrArgMetLeuTrpGluGlnIleLysGlnIleIleGlnArgIleThrTrpValSerProProAlaIleThrLeuGluTrpLysArgLysValAlaGlnGluAlaIleGluSerLeuSerAlaSerLysLeuAlaLysSerIleCysSerGlnPheArgThrArgLeuAsnSerSerHisGluAlaPheAlaAlaSerLeuArgGlnLeuGluAlaGlyHisSerGlyArgLeuGluLysThrGluAspLeuTrpLeuArgValArgLysAspHisAlaProArgLeuAlaArgLeuSerLeuGluSerCysSerLeuGlnAspValLeuLeuHisArgLysProLysLeuGlyGlnGluLeuGlyArgGlyGlnTyrGlyValValTyrLeuCysAspAsnTrpGlyGlyHisPheProCysAlaLeuLysSerValValProProAspGluLysHisTrpAsnAspLeuAlaLeuGluPheHisTyrMetArgSerLeuProLysHisGluArgLeuValAspLeuHisGlySerValIleAspTyrAsnTyrGlyGlyGlySerSerIleAlaValLeuLeuIleMetGluArgLeuHisArgAspLeuTyrThrGlyLeuLysAlaGlyLeuThrLeuGluThrArgLeuGlnIleAlaLeuAspValValGluGlyIleArgPheLeuHisSerGlnGlyLeuValHisArgAspIleLysLeuLysAsnValLeuLeuAspLysGlnAsnArgAlaLysIleThrAspLeuGlyPheCysLysProGluAlaMetMetSerGlySerIleValGlyThrProIleHisMetAlaProGluLeuPheThrGlyLysTyrAspAsnSerValAspValTyrAlaPheGlyIleLeuPheTrpTyrIleCysSerGlySerValLysLeuProGluAlaPheGluArgCysAlaSerLysAspHisLeuTrpAsnAsnValArgArgGlyAlaArgProGluArgLeuProValPheAspGluGluCysTrpGlnLeuMetGluAlaCysTrpAspGlyAspProLeuLysArgProLeuLeuGlyIleValGlnProMetLeuGlnGlyIleMetAsnArgLeuCysLysSerAsnSerGluGlnProAsnArgGlyLeuAspAspSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1342,
          "referenceAllele": "C",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029043",
      "geneNCBI_id": 25778,
      "geneSymbol": "DSTYK",
      "hgvs": [
        "XM_011509393.1:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507695.1:p.Arg267Ter",
        "hgvsWellDefined": "XP_011507695.1:p.Arg267_Thr734delinsGlnIleGlnGluLeuIleIleSerArgLeuAsnGlnAlaValAlaAsnLysLeuIleSerSerValAspTyrLeuArgGluSerPheValGlyThrLeuGluArgCysLeuGlnSerLeuGluLysSerGlnAspValSerValHisIleThrSerAsnTyrLeuLysGlnIleLeuAsnAlaAlaTyrHisValGluValThrPheHisSerGlySerSerValThrArgMetLeuTrpGluGlnIleLysGlnIleIleGlnArgIleThrTrpValSerProProAlaIleThrLeuGluTrpLysArgLysValAlaGlnGluAlaIleGluSerLeuSerAlaSerLysLeuAlaLysSerIleCysSerGlnPheArgThrArgLeuAsnSerSerHisGluAlaPheAlaAlaSerLeuArgGlnLeuGluAlaGlyHisSerGlyArgLeuGluLysThrGluAspLeuTrpLeuArgValArgLysAspHisAlaProArgLeuAlaArgLeuSerLeuGluSerCysSerLeuGlnAspValLeuLeuHisArgLysProLysLeuGlyGlnGluLeuGlyArgGlyGlnTyrGlyValValTyrLeuCysAspAsnTrpGlyGlyHisPheProCysAlaLeuLysSerValValProProAspGluLysHisTrpAsnAspLeuAlaLeuGluPheHisTyrMetArgSerLeuProLysHisGluArgLeuValAspLeuHisGlySerValIleAspTyrAsnTyrGlyGlyGlySerSerIleAlaValLeuLeuIleMetGluArgLeuHisArgAspLeuTyrThrGlyLeuLysAlaGlyLeuThrLeuGluThrArgLeuGlnIleAlaLeuAspValValGluGlyIleArgPheLeuHisSerGlnGlyLeuValHisArgAspIleLysLeuLysAsnValLeuLeuAspLysGlnAsnArgAlaLysIleThrAspLeuGlyPheCysLysProGluAlaMetMetSerGlySerIleValGlyThrProIleHisMetAlaProGluLeuPheThrGlyLysTyrAspAsnSerValAspValTyrAlaPheGlyIleLeuPheTrpTyrIleCysSerGlySerValLysLeuProGluAlaPheGluArgCysAlaSerLysAspHisLeuTrpAsnAsnValArgArgGlyAlaArgProGluArgLeuProValPheAspGluGluCysTrpGlnLeuMetGluAlaCysTrpAspGlyAspProLeuLysArgProLeuLeuGlyIleValGlnProMetLeuGlnGlyIleMetAsnArgLeuCysLysSerAsnSerGluGlnProAsnArgGlyLeuAspAspSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 852,
          "referenceAllele": "C",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029043",
      "geneNCBI_id": 25778,
      "geneSymbol": "DSTYK",
      "hgvs": [
        "XM_011509394.1:c.757C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507696.1:p.Arg253Ter",
        "hgvsWellDefined": "XP_011507696.1:p.Arg253_Thr720delinsGlnIleGlnGluLeuIleIleSerArgLeuAsnGlnAlaValAlaAsnLysLeuIleSerSerValAspTyrLeuArgGluSerPheValGlyThrLeuGluArgCysLeuGlnSerLeuGluLysSerGlnAspValSerValHisIleThrSerAsnTyrLeuLysGlnIleLeuAsnAlaAlaTyrHisValGluValThrPheHisSerGlySerSerValThrArgMetLeuTrpGluGlnIleLysGlnIleIleGlnArgIleThrTrpValSerProProAlaIleThrLeuGluTrpLysArgLysValAlaGlnGluAlaIleGluSerLeuSerAlaSerLysLeuAlaLysSerIleCysSerGlnPheArgThrArgLeuAsnSerSerHisGluAlaPheAlaAlaSerLeuArgGlnLeuGluAlaGlyHisSerGlyArgLeuGluLysThrGluAspLeuTrpLeuArgValArgLysAspHisAlaProArgLeuAlaArgLeuSerLeuGluSerCysSerLeuGlnAspValLeuLeuHisArgLysProLysLeuGlyGlnGluLeuGlyArgGlyGlnTyrGlyValValTyrLeuCysAspAsnTrpGlyGlyHisPheProCysAlaLeuLysSerValValProProAspGluLysHisTrpAsnAspLeuAlaLeuGluPheHisTyrMetArgSerLeuProLysHisGluArgLeuValAspLeuHisGlySerValIleAspTyrAsnTyrGlyGlyGlySerSerIleAlaValLeuLeuIleMetGluArgLeuHisArgAspLeuTyrThrGlyLeuLysAlaGlyLeuThrLeuGluThrArgLeuGlnIleAlaLeuAspValValGluGlyIleArgPheLeuHisSerGlnGlyLeuValHisArgAspIleLysLeuLysAsnValLeuLeuAspLysGlnAsnArgAlaLysIleThrAspLeuGlyPheCysLysProGluAlaMetMetSerGlySerIleValGlyThrProIleHisMetAlaProGluLeuPheThrGlyLysTyrAspAsnSerValAspValTyrAlaPheGlyIleLeuPheTrpTyrIleCysSerGlySerValLysLeuProGluAlaPheGluArgCysAlaSerLysAspHisLeuTrpAsnAsnValArgArgGlyAlaArgProGluArgLeuProValPheAspGluGluCysTrpGlnLeuMetGluAlaCysTrpAspGlyAspProLeuLysArgProLeuLeuGlyIleValGlnProMetLeuGlnGlyIleMetAsnArgLeuCysLysSerAsnSerGluGlnProAsnArgGlyLeuAspAspSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1379,
          "referenceAllele": "C",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029043",
      "geneNCBI_id": 25778,
      "geneSymbol": "DSTYK",
      "hgvs": [
        "XM_011509392.2:c.1357C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507694.1:p.Arg453Ter",
        "hgvsWellDefined": "XP_011507694.1:p.Arg453_Thr920delinsGlnIleGlnGluLeuIleIleSerArgLeuAsnGlnAlaValAlaAsnLysLeuIleSerSerValAspTyrLeuArgGluSerPheValGlyThrLeuGluArgCysLeuGlnSerLeuGluLysSerGlnAspValSerValHisIleThrSerAsnTyrLeuLysGlnIleLeuAsnAlaAlaTyrHisValGluValThrPheHisSerGlySerSerValThrArgMetLeuTrpGluGlnIleLysGlnIleIleGlnArgIleThrTrpValSerProProAlaIleThrLeuGluTrpLysArgLysValAlaGlnGluAlaIleGluSerLeuSerAlaSerLysLeuAlaLysSerIleCysSerGlnPheArgThrArgLeuAsnSerSerHisGluAlaPheAlaAlaSerLeuArgGlnLeuGluAlaGlyHisSerGlyArgLeuGluLysThrGluAspLeuTrpLeuArgValArgLysAspHisAlaProArgLeuAlaArgLeuSerLeuGluSerCysSerLeuGlnAspValLeuLeuHisArgLysProLysLeuGlyGlnGluLeuGlyArgGlyGlnTyrGlyValValTyrLeuCysAspAsnTrpGlyGlyHisPheProCysAlaLeuLysSerValValProProAspGluLysHisTrpAsnAspLeuAlaLeuGluPheHisTyrMetArgSerLeuProLysHisGluArgLeuValAspLeuHisGlySerValIleAspTyrAsnTyrGlyGlyGlySerSerIleAlaValLeuLeuIleMetGluArgLeuHisArgAspLeuTyrThrGlyLeuLysAlaGlyLeuThrLeuGluThrArgLeuGlnIleAlaLeuAspValValGluGlyIleArgPheLeuHisSerGlnGlyLeuValHisArgAspIleLysLeuLysAsnValLeuLeuAspLysGlnAsnArgAlaLysIleThrAspLeuGlyPheCysLysProGluAlaMetMetSerGlySerIleValGlyThrProIleHisMetAlaProGluLeuPheThrGlyLysTyrAspAsnSerValAspValTyrAlaPheGlyIleLeuPheTrpTyrIleCysSerGlySerValLysLeuProGluAlaPheGluArgCysAlaSerLysAspHisLeuTrpAsnAsnValArgArgGlyAlaArgProGluArgLeuProValPheAspGluGluCysTrpGlnLeuMetGluAlaCysTrpAspGlyAspProLeuLysArgProLeuLeuGlyIleValGlnProMetLeuGlnGlyIleMetAsnArgLeuCysLysSerAsnSerGluGlnProAsnArgGlyLeuAspAspSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1342,
          "referenceAllele": "C",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029043",
      "geneNCBI_id": 25778,
      "geneSymbol": "DSTYK",
      "hgvs": [
        "XM_011509393.2:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507695.1:p.Arg267Ter",
        "hgvsWellDefined": "XP_011507695.1:p.Arg267_Thr734delinsGlnIleGlnGluLeuIleIleSerArgLeuAsnGlnAlaValAlaAsnLysLeuIleSerSerValAspTyrLeuArgGluSerPheValGlyThrLeuGluArgCysLeuGlnSerLeuGluLysSerGlnAspValSerValHisIleThrSerAsnTyrLeuLysGlnIleLeuAsnAlaAlaTyrHisValGluValThrPheHisSerGlySerSerValThrArgMetLeuTrpGluGlnIleLysGlnIleIleGlnArgIleThrTrpValSerProProAlaIleThrLeuGluTrpLysArgLysValAlaGlnGluAlaIleGluSerLeuSerAlaSerLysLeuAlaLysSerIleCysSerGlnPheArgThrArgLeuAsnSerSerHisGluAlaPheAlaAlaSerLeuArgGlnLeuGluAlaGlyHisSerGlyArgLeuGluLysThrGluAspLeuTrpLeuArgValArgLysAspHisAlaProArgLeuAlaArgLeuSerLeuGluSerCysSerLeuGlnAspValLeuLeuHisArgLysProLysLeuGlyGlnGluLeuGlyArgGlyGlnTyrGlyValValTyrLeuCysAspAsnTrpGlyGlyHisPheProCysAlaLeuLysSerValValProProAspGluLysHisTrpAsnAspLeuAlaLeuGluPheHisTyrMetArgSerLeuProLysHisGluArgLeuValAspLeuHisGlySerValIleAspTyrAsnTyrGlyGlyGlySerSerIleAlaValLeuLeuIleMetGluArgLeuHisArgAspLeuTyrThrGlyLeuLysAlaGlyLeuThrLeuGluThrArgLeuGlnIleAlaLeuAspValValGluGlyIleArgPheLeuHisSerGlnGlyLeuValHisArgAspIleLysLeuLysAsnValLeuLeuAspLysGlnAsnArgAlaLysIleThrAspLeuGlyPheCysLysProGluAlaMetMetSerGlySerIleValGlyThrProIleHisMetAlaProGluLeuPheThrGlyLysTyrAspAsnSerValAspValTyrAlaPheGlyIleLeuPheTrpTyrIleCysSerGlySerValLysLeuProGluAlaPheGluArgCysAlaSerLysAspHisLeuTrpAsnAsnValArgArgGlyAlaArgProGluArgLeuProValPheAspGluGluCysTrpGlnLeuMetGluAlaCysTrpAspGlyAspProLeuLysArgProLeuLeuGlyIleValGlnProMetLeuGlnGlyIleMetAsnArgLeuCysLysSerAsnSerGluGlnProAsnArgGlyLeuAspAspSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 850,
          "referenceAllele": "C",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029043",
      "geneNCBI_id": 25778,
      "geneSymbol": "DSTYK",
      "hgvs": [
        "XM_011509394.2:c.757C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507696.1:p.Arg253Ter",
        "hgvsWellDefined": "XP_011507696.1:p.Arg253_Thr720delinsGlnIleGlnGluLeuIleIleSerArgLeuAsnGlnAlaValAlaAsnLysLeuIleSerSerValAspTyrLeuArgGluSerPheValGlyThrLeuGluArgCysLeuGlnSerLeuGluLysSerGlnAspValSerValHisIleThrSerAsnTyrLeuLysGlnIleLeuAsnAlaAlaTyrHisValGluValThrPheHisSerGlySerSerValThrArgMetLeuTrpGluGlnIleLysGlnIleIleGlnArgIleThrTrpValSerProProAlaIleThrLeuGluTrpLysArgLysValAlaGlnGluAlaIleGluSerLeuSerAlaSerLysLeuAlaLysSerIleCysSerGlnPheArgThrArgLeuAsnSerSerHisGluAlaPheAlaAlaSerLeuArgGlnLeuGluAlaGlyHisSerGlyArgLeuGluLysThrGluAspLeuTrpLeuArgValArgLysAspHisAlaProArgLeuAlaArgLeuSerLeuGluSerCysSerLeuGlnAspValLeuLeuHisArgLysProLysLeuGlyGlnGluLeuGlyArgGlyGlnTyrGlyValValTyrLeuCysAspAsnTrpGlyGlyHisPheProCysAlaLeuLysSerValValProProAspGluLysHisTrpAsnAspLeuAlaLeuGluPheHisTyrMetArgSerLeuProLysHisGluArgLeuValAspLeuHisGlySerValIleAspTyrAsnTyrGlyGlyGlySerSerIleAlaValLeuLeuIleMetGluArgLeuHisArgAspLeuTyrThrGlyLeuLysAlaGlyLeuThrLeuGluThrArgLeuGlnIleAlaLeuAspValValGluGlyIleArgPheLeuHisSerGlnGlyLeuValHisArgAspIleLysLeuLysAsnValLeuLeuAspLysGlnAsnArgAlaLysIleThrAspLeuGlyPheCysLysProGluAlaMetMetSerGlySerIleValGlyThrProIleHisMetAlaProGluLeuPheThrGlyLysTyrAspAsnSerValAspValTyrAlaPheGlyIleLeuPheTrpTyrIleCysSerGlySerValLysLeuProGluAlaPheGluArgCysAlaSerLysAspHisLeuTrpAsnAsnValArgArgGlyAlaArgProGluArgLeuProValPheAspGluGluCysTrpGlnLeuMetGluAlaCysTrpAspGlyAspProLeuLysArgProLeuLeuGlyIleValGlnProMetLeuGlnGlyIleMetAsnArgLeuCysLysSerAsnSerGluGlnProAsnArgGlyLeuAspAspSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541265"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829819446",
      "coordinates": [
        {
          "allele": "T",
          "end": 1551,
          "referenceAllele": "C",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029043",
      "geneNCBI_id": 25778,
      "geneSymbol": "DSTYK",
      "hgvs": [
        "NM_015375.3:c.1384C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056190.1:p.Arg462Ter",
        "hgvsWellDefined": "NP_056190.1:p.Arg462_Thr929delinsGlnIleGlnGluLeuIleIleSerArgLeuAsnGlnAlaValAlaAsnLysLeuIleSerSerValAspTyrLeuArgGluSerPheValGlyThrLeuGluArgCysLeuGlnSerLeuGluLysSerGlnAspValSerValHisIleThrSerAsnTyrLeuLysGlnIleLeuAsnAlaAlaTyrHisValGluValThrPheHisSerGlySerSerValThrArgMetLeuTrpGluGlnIleLysGlnIleIleGlnArgIleThrTrpValSerProProAlaIleThrLeuGluTrpLysArgLysValAlaGlnGluAlaIleGluSerLeuSerAlaSerLysLeuAlaLysSerIleCysSerGlnPheArgThrArgLeuAsnSerSerHisGluAlaPheAlaAlaSerLeuArgGlnLeuGluAlaGlyHisSerGlyArgLeuGluLysThrGluAspLeuTrpLeuArgValArgLysAspHisAlaProArgLeuAlaArgLeuSerLeuGluSerCysSerLeuGlnAspValLeuLeuHisArgLysProLysLeuGlyGlnGluLeuGlyArgGlyGlnTyrGlyValValTyrLeuCysAspAsnTrpGlyGlyHisPheProCysAlaLeuLysSerValValProProAspGluLysHisTrpAsnAspLeuAlaLeuGluPheHisTyrMetArgSerLeuProLysHisGluArgLeuValAspLeuHisGlySerValIleAspTyrAsnTyrGlyGlyGlySerSerIleAlaValLeuLeuIleMetGluArgLeuHisArgAspLeuTyrThrGlyLeuLysAlaGlyLeuThrLeuGluThrArgLeuGlnIleAlaLeuAspValValGluGlyIleArgPheLeuHisSerGlnGlyLeuValHisArgAspIleLysLeuLysAsnValLeuLeuAspLysGlnAsnArgAlaLysIleThrAspLeuGlyPheCysLysProGluAlaMetMetSerGlySerIleValGlyThrProIleHisMetAlaProGluLeuPheThrGlyLysTyrAspAsnSerValAspValTyrAlaPheGlyIleLeuPheTrpTyrIleCysSerGlySerValLysLeuProGluAlaPheGluArgCysAlaSerLysAspHisLeuTrpAsnAsnValArgArgGlyAlaArgProGluArgLeuProValPheAspGluGluCysTrpGlnLeuMetGluAlaCysTrpAspGlyAspProLeuLysArgProLeuLeuGlyIleValGlnProMetLeuGlnGlyIleMetAsnArgLeuCysLysSerAsnSerGluGlnProAsnArgGlyLeuAspAspSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668736",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367162.8:c.1384C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015375.3:c.1384C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356130.3:p.Arg462Ter"
          },
          "RefSeq": {
            "hgvs": "NP_056190.1:p.Arg462Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499304566",
      "coordinates": [
        {
          "allele": "T",
          "end": 1551,
          "referenceAllele": "C",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029043",
      "geneNCBI_id": 25778,
      "geneSymbol": "DSTYK",
      "hgvs": [
        "NM_199462.3:c.1384C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_955749.1:p.Arg462Ter",
        "hgvsWellDefined": "NP_955749.1:p.Arg462_Thr884delinsGlnIleGlnGluLeuIleIleSerArgLeuAsnGlnAlaValAlaAsnLysLeuIleSerSerValAspTyrLeuArgGluSerPheValGlyThrLeuGluArgCysLeuGlnSerLeuGluLysSerGlnAspValSerValHisIleThrSerAsnTyrLeuLysGlnIleLeuAsnAlaAlaTyrHisValGluValThrPheHisSerGlySerSerValThrArgMetLeuTrpGluGlnIleLysGlnIleIleGlnArgIleThrTrpValSerProProAlaIleThrLeuGluTrpLysArgLysValAlaGlnGluAlaIleGluSerLeuSerAlaSerLysLeuAlaLysSerIleCysSerGlnPheArgThrArgLeuAsnSerSerHisGluAlaPheAlaAlaSerLeuArgGlnLeuGluAlaGlyHisSerGlyArgLeuGluLysThrGluAspLeuTrpLeuArgValArgLysAspHisAlaProArgLeuAlaArgLeuSerLeuGluSerCysSerLeuGlnAspValLeuLeuHisArgLysProLysLeuGlyGlnGluLeuGlyArgGlyGlnTyrGlyValValTyrLeuCysAspAsnTrpGlyGlyHisPheProCysAlaLeuLysSerValValProProAspGluLysHisTrpAsnAspLeuAlaLeuGluPheHisTyrMetArgSerLeuProLysHisGluArgLeuValAspLeuHisGlySerValIleAspTyrAsnTyrGlyGlyGlySerSerIleAlaValLeuLeuIleMetGluArgLeuHisArgAspLeuTyrThrGlyLeuLysAlaGlyLeuThrLeuGluThrArgLeuGlnIleAlaLeuAspValValGluGlyIleArgPheLeuHisSerGlnGlyLeuValHisArgAspIleLysLeuLysAsnValLeuLeuAspLysGlnAsnArgAlaLysIleThrAspLeuGlyPheCysLysProGluAlaMetMetSerGlySerIleValGlyThrProIleHisMetAlaProGluLeuPheThrGlyAlaArgProGluArgLeuProValPheAspGluGluCysTrpGlnLeuMetGluAlaCysTrpAspGlyAspProLeuLysArgProLeuLeuGlyIleValGlnProMetLeuGlnGlyIleMetAsnArgLeuCysLysSerAsnSerGluGlnProAsnArgGlyLeuAspAspSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701511"
    }
  ],
  "type": "nucleotide"
}