{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16618592",
  "communityStandardTitle": [
    "NM_000127.3(EXT1):c.250C>T (p.Gln84Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407301[alleleid]",
        "alleleId": 407301,
        "preferredName": "NM_000127.3(EXT1):c.250C>T (p.Gln84Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419258",
        "RCV": [
          "RCV000483829",
          "RCV003497851"
        ],
        "variationId": 419258
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.119123036G>A?assembly=hg19",
        "id": "chr8:g.119123036G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.118110797G>A?assembly=hg38",
        "id": "chr8:g.118110797G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793753",
        "rs": 1064793753
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 118110797,
          "referenceAllele": "G",
          "start": 118110796
        }
      ],
      "hgvs": [
        "NC_000008.11:g.118110797G>A",
        "CM000670.2:g.118110797G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 119123036,
          "referenceAllele": "G",
          "start": 119123035
        }
      ],
      "hgvs": [
        "NC_000008.10:g.119123036G>A",
        "CM000670.1:g.119123036G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 119192217,
          "referenceAllele": "G",
          "start": 119192216
        }
      ],
      "hgvs": [
        "NC_000008.9:g.119192217G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6023,
          "referenceAllele": "C",
          "start": 6022
        }
      ],
      "hgvs": [
        "NG_007455.2:g.6023C>T",
        "LRG_493:g.6023C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000581"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "referenceAllele": "C",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000378204.7:c.250C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367446.3:p.Gln84Ter",
        "hgvsWellDefined": "ENSP00000367446.3:p.Gln84_Leu746delinsLysArgAspAlaAsnSerSerIleTyrLysGlyLysLysCysArgMetGluSerCysPheAspPheThrLeuCysLysLysAsnGlyPheLysValTyrValTyrProGlnGlnLysGlyGluLysIleAlaGluSerTyrGlnAsnIleLeuAlaAlaIleGluGlySerArgPheTyrThrSerAspProSerGlnAlaCysLeuPheValLeuSerLeuAspThrLeuAspArgAspGlnLeuSerProGlnTyrValHisAsnLeuArgSerLysValGlnSerLeuHisLeuTrpAsnAsnGlyArgAsnHisLeuIlePheAsnLeuTyrSerGlyThrTrpProAspTyrThrGluAspValGlyPheAspIleGlyGlnAlaMetLeuAlaLysAlaSerIleSerThrGluAsnPheArgProAsnPheAspValSerIleProLeuPheSerLysAspHisProArgThrGlyGlyGluArgGlyPheLeuLysPheAsnThrIleProProLeuArgLysTyrMetLeuValPheLysGlyLysArgTyrLeuThrGlyIleGlySerAspThrArgAsnAlaLeuTyrHisValHisAsnGlyGluAspValValLeuLeuThrThrCysLysHisGlyLysAspTrpGlnLysHisLysAspSerArgCysAspArgAspAsnThrGluTyrGluLysTyrAspTyrArgGluMetLeuHisAsnAlaThrPheCysLeuValProArgGlyArgArgLeuGlySerPheArgPheLeuGluAlaLeuGlnAlaAlaCysValProValMetLeuSerAsnGlyTrpGluLeuProPheSerGluValIleAsnTrpAsnGlnAlaAlaValIleGlyAspGluArgLeuLeuLeuGlnIleProSerThrIleArgSerIleHisGlnAspLysIleLeuAlaLeuArgGlnGlnThrGlnPheLeuTrpGluAlaTyrPheSerSerValGluLysIleValLeuThrThrLeuGluIleIleGlnAspArgIlePheLysHisIleSerArgAsnSerLeuIleTrpAsnLysHisProGlyGlyLeuPheValLeuProGlnTyrSerSerTyrLeuGlyAspPheProTyrTyrTyrAlaAsnLeuGlyLeuLysProProSerLysPheThrAlaValIleHisAlaValThrProLeuValSerGlnSerGlnProValLeuLysLeuLeuValAlaAlaAlaLysSerGlnTyrCysAlaGlnIleIleValLeuTrpAsnCysAspLysProLeuProAlaLysHisArgTrpProAlaThrAlaValProValValValIleGluGlyGluSerLysValMetSerSerArgPheLeuProTyrAspAsnIleIleThrAspAlaValLeuSerLeuAspGluAspThrValLeuSerThrThrGluValAspPheAlaPheThrValTrpGlnSerPheProGluArgIleValGlyTyrProAlaArgSerHisPheTrpAspAsnSerLysGluArgTrpGlyTyrThrSerLysTrpThrAsnAspTyrSerMetValLeuThrGlyAlaAlaIleTyrHisLysTyrTyrHisTyrLeuTyrSerHisTyrLeuProAlaSerLeuLysAsnMetValAspGlnLeuAlaAsnCysGluAspIleLeuMetAsnPheLeuValSerAlaValThrLysLeuProProIleLysValThrGlnLysLysGlnTyrLysGluThrMetMetGlyGlnThrSerArgAlaSerArgTrpAlaAspProAspHisPheAlaGlnArgGlnSerCysMetAsnThrPheAlaSerTrpPheGlyTyrMetProLeuIleHisSerGlnMetArgLeuAspProValLeuPheLysAspGlnValSerIleLeuArgLysLysTyrArgAspIleGluArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752050",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378204.7:c.250C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000127.3:c.250C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367446.3:p.Gln84Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000118.2:p.Gln84Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000378204.6:c.250C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367446.2:p.Gln84Ter",
        "hgvsWellDefined": "ENSP00000367446.2:p.Gln84_Leu746delinsLysArgAspAlaAsnSerSerIleTyrLysGlyLysLysCysArgMetGluSerCysPheAspPheThrLeuCysLysLysAsnGlyPheLysValTyrValTyrProGlnGlnLysGlyGluLysIleAlaGluSerTyrGlnAsnIleLeuAlaAlaIleGluGlySerArgPheTyrThrSerAspProSerGlnAlaCysLeuPheValLeuSerLeuAspThrLeuAspArgAspGlnLeuSerProGlnTyrValHisAsnLeuArgSerLysValGlnSerLeuHisLeuTrpAsnAsnGlyArgAsnHisLeuIlePheAsnLeuTyrSerGlyThrTrpProAspTyrThrGluAspValGlyPheAspIleGlyGlnAlaMetLeuAlaLysAlaSerIleSerThrGluAsnPheArgProAsnPheAspValSerIleProLeuPheSerLysAspHisProArgThrGlyGlyGluArgGlyPheLeuLysPheAsnThrIleProProLeuArgLysTyrMetLeuValPheLysGlyLysArgTyrLeuThrGlyIleGlySerAspThrArgAsnAlaLeuTyrHisValHisAsnGlyGluAspValValLeuLeuThrThrCysLysHisGlyLysAspTrpGlnLysHisLysAspSerArgCysAspArgAspAsnThrGluTyrGluLysTyrAspTyrArgGluMetLeuHisAsnAlaThrPheCysLeuValProArgGlyArgArgLeuGlySerPheArgPheLeuGluAlaLeuGlnAlaAlaCysValProValMetLeuSerAsnGlyTrpGluLeuProPheSerGluValIleAsnTrpAsnGlnAlaAlaValIleGlyAspGluArgLeuLeuLeuGlnIleProSerThrIleArgSerIleHisGlnAspLysIleLeuAlaLeuArgGlnGlnThrGlnPheLeuTrpGluAlaTyrPheSerSerValGluLysIleValLeuThrThrLeuGluIleIleGlnAspArgIlePheLysHisIleSerArgAsnSerLeuIleTrpAsnLysHisProGlyGlyLeuPheValLeuProGlnTyrSerSerTyrLeuGlyAspPheProTyrTyrTyrAlaAsnLeuGlyLeuLysProProSerLysPheThrAlaValIleHisAlaValThrProLeuValSerGlnSerGlnProValLeuLysLeuLeuValAlaAlaAlaLysSerGlnTyrCysAlaGlnIleIleValLeuTrpAsnCysAspLysProLeuProAlaLysHisArgTrpProAlaThrAlaValProValValValIleGluGlyGluSerLysValMetSerSerArgPheLeuProTyrAspAsnIleIleThrAspAlaValLeuSerLeuAspGluAspThrValLeuSerThrThrGluValAspPheAlaPheThrValTrpGlnSerPheProGluArgIleValGlyTyrProAlaArgSerHisPheTrpAspAsnSerLysGluArgTrpGlyTyrThrSerLysTrpThrAsnAspTyrSerMetValLeuThrGlyAlaAlaIleTyrHisLysTyrTyrHisTyrLeuTyrSerHisTyrLeuProAlaSerLeuLysAsnMetValAspGlnLeuAlaAsnCysGluAspIleLeuMetAsnPheLeuValSerAlaValThrLysLeuProProIleLysValThrGlnLysLysGlnTyrLysGluThrMetMetGlyGlnThrSerArgAlaSerArgTrpAlaAspProAspHisPheAlaGlnArgGlnSerCysMetAsnThrPheAlaSerTrpPheGlyTyrMetProLeuIleHisSerGlnMetArgLeuAspProValLeuPheLysAspGlnValSerIleLeuArgLysLysTyrArgAspIleGluArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "endIntronDirection": "+",
          "endIntronOffset": 177,
          "referenceAllele": "C",
          "start": 369,
          "startIntronDirection": "+",
          "startIntronOffset": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000437196.1:c.73+177C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407299.1:n.73+177C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645478121",
      "coordinates": [
        {
          "allele": "T",
          "end": 1023,
          "referenceAllele": "C",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "NM_000127.2:c.250C>T",
        "LRG_493t1:c.250C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000118.2:p.Gln84Ter",
        "hgvsWellDefined": "NP_000118.2:p.Gln84_Leu746delinsLysArgAspAlaAsnSerSerIleTyrLysGlyLysLysCysArgMetGluSerCysPheAspPheThrLeuCysLysLysAsnGlyPheLysValTyrValTyrProGlnGlnLysGlyGluLysIleAlaGluSerTyrGlnAsnIleLeuAlaAlaIleGluGlySerArgPheTyrThrSerAspProSerGlnAlaCysLeuPheValLeuSerLeuAspThrLeuAspArgAspGlnLeuSerProGlnTyrValHisAsnLeuArgSerLysValGlnSerLeuHisLeuTrpAsnAsnGlyArgAsnHisLeuIlePheAsnLeuTyrSerGlyThrTrpProAspTyrThrGluAspValGlyPheAspIleGlyGlnAlaMetLeuAlaLysAlaSerIleSerThrGluAsnPheArgProAsnPheAspValSerIleProLeuPheSerLysAspHisProArgThrGlyGlyGluArgGlyPheLeuLysPheAsnThrIleProProLeuArgLysTyrMetLeuValPheLysGlyLysArgTyrLeuThrGlyIleGlySerAspThrArgAsnAlaLeuTyrHisValHisAsnGlyGluAspValValLeuLeuThrThrCysLysHisGlyLysAspTrpGlnLysHisLysAspSerArgCysAspArgAspAsnThrGluTyrGluLysTyrAspTyrArgGluMetLeuHisAsnAlaThrPheCysLeuValProArgGlyArgArgLeuGlySerPheArgPheLeuGluAlaLeuGlnAlaAlaCysValProValMetLeuSerAsnGlyTrpGluLeuProPheSerGluValIleAsnTrpAsnGlnAlaAlaValIleGlyAspGluArgLeuLeuLeuGlnIleProSerThrIleArgSerIleHisGlnAspLysIleLeuAlaLeuArgGlnGlnThrGlnPheLeuTrpGluAlaTyrPheSerSerValGluLysIleValLeuThrThrLeuGluIleIleGlnAspArgIlePheLysHisIleSerArgAsnSerLeuIleTrpAsnLysHisProGlyGlyLeuPheValLeuProGlnTyrSerSerTyrLeuGlyAspPheProTyrTyrTyrAlaAsnLeuGlyLeuLysProProSerLysPheThrAlaValIleHisAlaValThrProLeuValSerGlnSerGlnProValLeuLysLeuLeuValAlaAlaAlaLysSerGlnTyrCysAlaGlnIleIleValLeuTrpAsnCysAspLysProLeuProAlaLysHisArgTrpProAlaThrAlaValProValValValIleGluGlyGluSerLysValMetSerSerArgPheLeuProTyrAspAsnIleIleThrAspAlaValLeuSerLeuAspGluAspThrValLeuSerThrThrGluValAspPheAlaPheThrValTrpGlnSerPheProGluArgIleValGlyTyrProAlaArgSerHisPheTrpAspAsnSerLysGluArgTrpGlyTyrThrSerLysTrpThrAsnAspTyrSerMetValLeuThrGlyAlaAlaIleTyrHisLysTyrTyrHisTyrLeuTyrSerHisTyrLeuProAlaSerLeuLysAsnMetValAspGlnLeuAlaAsnCysGluAspIleLeuMetAsnPheLeuValSerAlaValThrLysLeuProProIleLysValThrGlnLysLysGlnTyrLysGluThrMetMetGlyGlnThrSerArgAlaSerArgTrpAlaAspProAspHisPheAlaGlnArgGlnSerCysMetAsnThrPheAlaSerTrpPheGlyTyrMetProLeuIleHisSerGlnMetArgLeuAspProValLeuPheLysAspGlnValSerIleLeuArgLysLysTyrArgAspIleGluArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006189"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645478121",
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "referenceAllele": "C",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "NM_000127.3:c.250C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000118.2:p.Gln84Ter",
        "hgvsWellDefined": "NP_000118.2:p.Gln84_Leu746delinsLysArgAspAlaAsnSerSerIleTyrLysGlyLysLysCysArgMetGluSerCysPheAspPheThrLeuCysLysLysAsnGlyPheLysValTyrValTyrProGlnGlnLysGlyGluLysIleAlaGluSerTyrGlnAsnIleLeuAlaAlaIleGluGlySerArgPheTyrThrSerAspProSerGlnAlaCysLeuPheValLeuSerLeuAspThrLeuAspArgAspGlnLeuSerProGlnTyrValHisAsnLeuArgSerLysValGlnSerLeuHisLeuTrpAsnAsnGlyArgAsnHisLeuIlePheAsnLeuTyrSerGlyThrTrpProAspTyrThrGluAspValGlyPheAspIleGlyGlnAlaMetLeuAlaLysAlaSerIleSerThrGluAsnPheArgProAsnPheAspValSerIleProLeuPheSerLysAspHisProArgThrGlyGlyGluArgGlyPheLeuLysPheAsnThrIleProProLeuArgLysTyrMetLeuValPheLysGlyLysArgTyrLeuThrGlyIleGlySerAspThrArgAsnAlaLeuTyrHisValHisAsnGlyGluAspValValLeuLeuThrThrCysLysHisGlyLysAspTrpGlnLysHisLysAspSerArgCysAspArgAspAsnThrGluTyrGluLysTyrAspTyrArgGluMetLeuHisAsnAlaThrPheCysLeuValProArgGlyArgArgLeuGlySerPheArgPheLeuGluAlaLeuGlnAlaAlaCysValProValMetLeuSerAsnGlyTrpGluLeuProPheSerGluValIleAsnTrpAsnGlnAlaAlaValIleGlyAspGluArgLeuLeuLeuGlnIleProSerThrIleArgSerIleHisGlnAspLysIleLeuAlaLeuArgGlnGlnThrGlnPheLeuTrpGluAlaTyrPheSerSerValGluLysIleValLeuThrThrLeuGluIleIleGlnAspArgIlePheLysHisIleSerArgAsnSerLeuIleTrpAsnLysHisProGlyGlyLeuPheValLeuProGlnTyrSerSerTyrLeuGlyAspPheProTyrTyrTyrAlaAsnLeuGlyLeuLysProProSerLysPheThrAlaValIleHisAlaValThrProLeuValSerGlnSerGlnProValLeuLysLeuLeuValAlaAlaAlaLysSerGlnTyrCysAlaGlnIleIleValLeuTrpAsnCysAspLysProLeuProAlaLysHisArgTrpProAlaThrAlaValProValValValIleGluGlyGluSerLysValMetSerSerArgPheLeuProTyrAspAsnIleIleThrAspAlaValLeuSerLeuAspGluAspThrValLeuSerThrThrGluValAspPheAlaPheThrValTrpGlnSerPheProGluArgIleValGlyTyrProAlaArgSerHisPheTrpAspAsnSerLysGluArgTrpGlyTyrThrSerLysTrpThrAsnAspTyrSerMetValLeuThrGlyAlaAlaIleTyrHisLysTyrTyrHisTyrLeuTyrSerHisTyrLeuProAlaSerLeuLysAsnMetValAspGlnLeuAlaAsnCysGluAspIleLeuMetAsnPheLeuValSerAlaValThrLysLeuProProIleLysValThrGlnLysLysGlnTyrLysGluThrMetMetGlyGlnThrSerArgAlaSerArgTrpAlaAspProAspHisPheAlaGlnArgGlnSerCysMetAsnThrPheAlaSerTrpPheGlyTyrMetProLeuIleHisSerGlnMetArgLeuAspProValLeuPheLysAspGlnValSerIleLeuArgLysLysTyrArgAspIleGluArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674714",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378204.7:c.250C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000127.3:c.250C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367446.3:p.Gln84Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000118.2:p.Gln84Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}