{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA256909",
  "communityStandardTitle": [
    "NM_006208.3(ENPP1):c.783C>G (p.Tyr261Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28636[alleleid]",
        "alleleId": 28636,
        "preferredName": "NM_006208.3(ENPP1):c.783C>G (p.Tyr261Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13597",
        "RCV": [
          "RCV000014567",
          "RCV001044349"
        ],
        "variationId": 13597
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.132179875C>G?assembly=hg19",
        "id": "chr6:g.132179875C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.131858735C>G?assembly=hg38",
        "id": "chr6:g.131858735C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606784",
        "rs": 267606784
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-132179875-C-G?dataset=gnomad_r2_1",
        "id": "6-132179875-C-G",
        "variant": "6:132179875 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-131858735-C-G?dataset=gnomad_r4",
        "id": "6-131858735-C-G",
        "variant": "6:131858735 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 131858735,
          "referenceAllele": "C",
          "start": 131858734
        }
      ],
      "hgvs": [
        "NC_000006.12:g.131858735C>G",
        "CM000668.2:g.131858735C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 132179875,
          "referenceAllele": "C",
          "start": 132179874
        }
      ],
      "hgvs": [
        "NC_000006.11:g.132179875C>G",
        "CM000668.1:g.132179875C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 132221568,
          "referenceAllele": "C",
          "start": 132221567
        }
      ],
      "hgvs": [
        "NC_000006.10:g.132221568C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 55720,
          "referenceAllele": "C",
          "start": 55719
        }
      ],
      "hgvs": [
        "NG_008206.1:g.55720C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000948"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 799,
          "referenceAllele": "C",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "ENST00000647893.1:c.783C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498074.1:p.Tyr261Ter",
        "hgvsWellDefined": "ENSP00000498074.1:p.Tyr261_Asp925delinsSerIleValThrGlyLeuTyrProGluSerHisGlyIleIleAspAsnLysMetTyrAspProLysMetAsnAlaSerPheSerLeuLysSerLysGluLysPheAsnProGluTrpTyrLysGlyGluProIleTrpValThrAlaLysTyrGlnGlyLeuLysSerGlyThrPhePheTrpProGlySerAspValGluIleAsnGlyIlePheProAspIleTyrLysMetTyrAsnGlySerValProPheGluGluArgIleLeuAlaValLeuGlnTrpLeuGlnLeuProLysAspGluArgProHisPheTyrThrLeuTyrLeuGluGluProAspSerSerGlyHisSerTyrGlyProValSerSerGluValIleLysAlaLeuGlnArgValAspGlyMetValGlyMetLeuMetAspGlyLeuLysGluLeuAsnLeuHisArgCysLeuAsnLeuIleLeuIleSerAspHisGlyMetGluGlnGlySerCysLysLysTyrIleTyrLeuAsnLysTyrLeuGlyAspValLysAsnIleLysValIleTyrGlyProAlaAlaArgLeuArgProSerAspValProAspLysTyrTyrSerPheAsnTyrGluGlyIleAlaArgAsnLeuSerCysArgGluProAsnGlnHisPheLysProTyrLeuLysHisPheLeuProLysArgLeuHisPheAlaLysSerAspArgIleGluProLeuThrPheTyrLeuAspProGlnTrpGlnLeuAlaLeuAsnProSerGluArgLysTyrCysGlySerGlyPheHisGlySerAspAsnValPheSerAsnMetGlnAlaLeuPheValGlyTyrGlyProGlyPheLysHisGlyIleGluAlaAspThrPheGluAsnIleGluValTyrAsnLeuMetCysAspLeuLeuAsnLeuThrProAlaProAsnAsnGlyThrHisGlySerLeuAsnHisLeuLeuLysAsnProValTyrThrProLysHisProLysGluValHisProLeuValGlnCysProPheThrArgAsnProArgAspAsnLeuGlyCysSerCysAsnProSerIleLeuProIleGluAspPheGlnThrGlnPheAsnLeuThrValAlaGluGluLysIleIleLysHisGluThrLeuProTyrGlyArgProArgValLeuGlnLysGluAsnThrIleCysLeuLeuSerGlnHisGlnPheMetSerGlyTyrSerGlnAspIleLeuMetProLeuTrpThrSerTyrThrValAspArgAsnAspSerPheSerThrGluAspPheSerAsnCysLeuTyrGlnAspPheArgIleProLeuSerProValHisLysCysSerPheTyrLysAsnAsnThrLysValSerTyrGlyPheLeuSerProProGlnLeuAsnLysAsnSerSerGlyIleTyrSerGluAlaLeuLeuThrThrAsnIleValProMetTyrGlnSerPheGlnValIleTrpArgTyrPheHisAspThrLeuLeuArgLysTyrAlaGluGluArgAsnGlyValAsnValValSerGlyProValPheAspPheAspTyrAspGlyArgCysAspSerLeuGluAsnLeuArgGlnLysArgArgValIleArgAsnGlnGluIleLeuIleProThrHisPhePheIleValLeuThrSerCysLysAspThrSerGlnThrProLeuHisCysGluAsnLeuAspThrLeuAlaPheIleLeuProHisArgThrAspAsnSerGluSerCysValHisGlyLysHisAspSerSerTrpValGluGluLeuLeuMetLeuHisArgAlaArgIleThrAspValGluHisIleThrGlyLeuSerPheTyrGlnGlnArgLysGluProValSerAspIleLeuLysLeuLysThrHisLeuProThrPheSerGlnGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769675",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647893.1:c.783C>G"
          },
          "RefSeq": {
            "hgvs": "NM_006208.3:c.783C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498074.1:p.Tyr261Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006199.2:p.Tyr261Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 400,
          "referenceAllele": "C",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "ENST00000650147.1:c.400C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "referenceAllele": "C",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "ENST00000650437.1:c.274C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "ENST00000360971.6:c.783C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354238.2:p.Tyr261Ter",
        "hgvsWellDefined": "ENSP00000354238.2:p.Tyr261_Asp925delinsSerIleValThrGlyLeuTyrProGluSerHisGlyIleIleAspAsnLysMetTyrAspProLysMetAsnAlaSerPheSerLeuLysSerLysGluLysPheAsnProGluTrpTyrLysGlyGluProIleTrpValThrAlaLysTyrGlnGlyLeuLysSerGlyThrPhePheTrpProGlySerAspValGluIleAsnGlyIlePheProAspIleTyrLysMetTyrAsnGlySerValProPheGluGluArgIleLeuAlaValLeuGlnTrpLeuGlnLeuProLysAspGluArgProHisPheTyrThrLeuTyrLeuGluGluProAspSerSerGlyHisSerTyrGlyProValSerSerGluValIleLysAlaLeuGlnArgValAspGlyMetValGlyMetLeuMetAspGlyLeuLysGluLeuAsnLeuHisArgCysLeuAsnLeuIleLeuIleSerAspHisGlyMetGluGlnGlySerCysLysLysTyrIleTyrLeuAsnLysTyrLeuGlyAspValLysAsnIleLysValIleTyrGlyProAlaAlaArgLeuArgProSerAspValProAspLysTyrTyrSerPheAsnTyrGluGlyIleAlaArgAsnLeuSerCysArgGluProAsnGlnHisPheLysProTyrLeuLysHisPheLeuProLysArgLeuHisPheAlaLysSerAspArgIleGluProLeuThrPheTyrLeuAspProGlnTrpGlnLeuAlaLeuAsnProSerGluArgLysTyrCysGlySerGlyPheHisGlySerAspAsnValPheSerAsnMetGlnAlaLeuPheValGlyTyrGlyProGlyPheLysHisGlyIleGluAlaAspThrPheGluAsnIleGluValTyrAsnLeuMetCysAspLeuLeuAsnLeuThrProAlaProAsnAsnGlyThrHisGlySerLeuAsnHisLeuLeuLysAsnProValTyrThrProLysHisProLysGluValHisProLeuValGlnCysProPheThrArgAsnProArgAspAsnLeuGlyCysSerCysAsnProSerIleLeuProIleGluAspPheGlnThrGlnPheAsnLeuThrValAlaGluGluLysIleIleLysHisGluThrLeuProTyrGlyArgProArgValLeuGlnLysGluAsnThrIleCysLeuLeuSerGlnHisGlnPheMetSerGlyTyrSerGlnAspIleLeuMetProLeuTrpThrSerTyrThrValAspArgAsnAspSerPheSerThrGluAspPheSerAsnCysLeuTyrGlnAspPheArgIleProLeuSerProValHisLysCysSerPheTyrLysAsnAsnThrLysValSerTyrGlyPheLeuSerProProGlnLeuAsnLysAsnSerSerGlyIleTyrSerGluAlaLeuLeuThrThrAsnIleValProMetTyrGlnSerPheGlnValIleTrpArgTyrPheHisAspThrLeuLeuArgLysTyrAlaGluGluArgAsnGlyValAsnValValSerGlyProValPheAspPheAspTyrAspGlyArgCysAspSerLeuGluAsnLeuArgGlnLysArgArgValIleArgAsnGlnGluIleLeuIleProThrHisPhePheIleValLeuThrSerCysLysAspThrSerGlnThrProLeuHisCysGluAsnLeuAspThrLeuAlaPheIleLeuProHisArgThrAspAsnSerGluSerCysValHisGlyLysHisAspSerSerTrpValGluGluLeuLeuMetLeuHisArgAlaArgIleThrAspValGluHisIleThrGlyLeuSerPheTyrGlnGlnArgLysGluProValSerAspIleLeuLysLeuLysThrHisLeuProThrPheSerGlnGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 785,
          "referenceAllele": "C",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "ENST00000513998.5:c.783C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422424.1:p.Tyr261Ter",
        "hgvsWellDefined": "ENSP00000422424.1:p.Tyr261_Gln378delinsSerIleValThrGlyLeuTyrProGluSerHisGlyIleIleAspAsnLysMetTyrAspProLysMetAsnAlaSerPheSerLeuLysSerLysGluLysPheAsnProGluTrpTyrLysGlyGluProIleTrpValThrAlaLysTyrGlnGlyLeuLysSerGlyThrPhePheTrpProGlySerAspValGluIleAsnGlyIlePheProAspIleTyrLysMetTyrAsnGlySerValProPheGluGluArgIleLeuAlaValLeuGlnTrpLeuGlnLeuProLysAspGluArgArgThrArgPhePheArgSerPheIleTrpThrSerGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343594"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256910",
      "coordinates": [
        {
          "allele": "G",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "NM_006208.2:c.783C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006199.2:p.Tyr261Ter",
        "hgvsWellDefined": "NP_006199.2:p.Tyr261_Asp925delinsSerIleValThrGlyLeuTyrProGluSerHisGlyIleIleAspAsnLysMetTyrAspProLysMetAsnAlaSerPheSerLeuLysSerLysGluLysPheAsnProGluTrpTyrLysGlyGluProIleTrpValThrAlaLysTyrGlnGlyLeuLysSerGlyThrPhePheTrpProGlySerAspValGluIleAsnGlyIlePheProAspIleTyrLysMetTyrAsnGlySerValProPheGluGluArgIleLeuAlaValLeuGlnTrpLeuGlnLeuProLysAspGluArgProHisPheTyrThrLeuTyrLeuGluGluProAspSerSerGlyHisSerTyrGlyProValSerSerGluValIleLysAlaLeuGlnArgValAspGlyMetValGlyMetLeuMetAspGlyLeuLysGluLeuAsnLeuHisArgCysLeuAsnLeuIleLeuIleSerAspHisGlyMetGluGlnGlySerCysLysLysTyrIleTyrLeuAsnLysTyrLeuGlyAspValLysAsnIleLysValIleTyrGlyProAlaAlaArgLeuArgProSerAspValProAspLysTyrTyrSerPheAsnTyrGluGlyIleAlaArgAsnLeuSerCysArgGluProAsnGlnHisPheLysProTyrLeuLysHisPheLeuProLysArgLeuHisPheAlaLysSerAspArgIleGluProLeuThrPheTyrLeuAspProGlnTrpGlnLeuAlaLeuAsnProSerGluArgLysTyrCysGlySerGlyPheHisGlySerAspAsnValPheSerAsnMetGlnAlaLeuPheValGlyTyrGlyProGlyPheLysHisGlyIleGluAlaAspThrPheGluAsnIleGluValTyrAsnLeuMetCysAspLeuLeuAsnLeuThrProAlaProAsnAsnGlyThrHisGlySerLeuAsnHisLeuLeuLysAsnProValTyrThrProLysHisProLysGluValHisProLeuValGlnCysProPheThrArgAsnProArgAspAsnLeuGlyCysSerCysAsnProSerIleLeuProIleGluAspPheGlnThrGlnPheAsnLeuThrValAlaGluGluLysIleIleLysHisGluThrLeuProTyrGlyArgProArgValLeuGlnLysGluAsnThrIleCysLeuLeuSerGlnHisGlnPheMetSerGlyTyrSerGlnAspIleLeuMetProLeuTrpThrSerTyrThrValAspArgAsnAspSerPheSerThrGluAspPheSerAsnCysLeuTyrGlnAspPheArgIleProLeuSerProValHisLysCysSerPheTyrLysAsnAsnThrLysValSerTyrGlyPheLeuSerProProGlnLeuAsnLysAsnSerSerGlyIleTyrSerGluAlaLeuLeuThrThrAsnIleValProMetTyrGlnSerPheGlnValIleTrpArgTyrPheHisAspThrLeuLeuArgLysTyrAlaGluGluArgAsnGlyValAsnValValSerGlyProValPheAspPheAspTyrAspGlyArgCysAspSerLeuGluAsnLeuArgGlnLysArgArgValIleArgAsnGlnGluIleLeuIleProThrHisPhePheIleValLeuThrSerCysLysAspThrSerGlnThrProLeuHisCysGluAsnLeuAspThrLeuAlaPheIleLeuProHisArgThrAspAsnSerGluSerCysValHisGlyLysHisAspSerSerTrpValGluGluLeuLeuMetLeuHisArgAlaArgIleThrAspValGluHisIleThrGlyLeuSerPheTyrGlnGlnArgLysGluProValSerAspIleLeuLysLeuLysThrHisLeuProThrPheSerGlnGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031233"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256910",
      "coordinates": [
        {
          "allele": "G",
          "end": 799,
          "referenceAllele": "C",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "NM_006208.3:c.783C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006199.2:p.Tyr261Ter",
        "hgvsWellDefined": "NP_006199.2:p.Tyr261_Asp925delinsSerIleValThrGlyLeuTyrProGluSerHisGlyIleIleAspAsnLysMetTyrAspProLysMetAsnAlaSerPheSerLeuLysSerLysGluLysPheAsnProGluTrpTyrLysGlyGluProIleTrpValThrAlaLysTyrGlnGlyLeuLysSerGlyThrPhePheTrpProGlySerAspValGluIleAsnGlyIlePheProAspIleTyrLysMetTyrAsnGlySerValProPheGluGluArgIleLeuAlaValLeuGlnTrpLeuGlnLeuProLysAspGluArgProHisPheTyrThrLeuTyrLeuGluGluProAspSerSerGlyHisSerTyrGlyProValSerSerGluValIleLysAlaLeuGlnArgValAspGlyMetValGlyMetLeuMetAspGlyLeuLysGluLeuAsnLeuHisArgCysLeuAsnLeuIleLeuIleSerAspHisGlyMetGluGlnGlySerCysLysLysTyrIleTyrLeuAsnLysTyrLeuGlyAspValLysAsnIleLysValIleTyrGlyProAlaAlaArgLeuArgProSerAspValProAspLysTyrTyrSerPheAsnTyrGluGlyIleAlaArgAsnLeuSerCysArgGluProAsnGlnHisPheLysProTyrLeuLysHisPheLeuProLysArgLeuHisPheAlaLysSerAspArgIleGluProLeuThrPheTyrLeuAspProGlnTrpGlnLeuAlaLeuAsnProSerGluArgLysTyrCysGlySerGlyPheHisGlySerAspAsnValPheSerAsnMetGlnAlaLeuPheValGlyTyrGlyProGlyPheLysHisGlyIleGluAlaAspThrPheGluAsnIleGluValTyrAsnLeuMetCysAspLeuLeuAsnLeuThrProAlaProAsnAsnGlyThrHisGlySerLeuAsnHisLeuLeuLysAsnProValTyrThrProLysHisProLysGluValHisProLeuValGlnCysProPheThrArgAsnProArgAspAsnLeuGlyCysSerCysAsnProSerIleLeuProIleGluAspPheGlnThrGlnPheAsnLeuThrValAlaGluGluLysIleIleLysHisGluThrLeuProTyrGlyArgProArgValLeuGlnLysGluAsnThrIleCysLeuLeuSerGlnHisGlnPheMetSerGlyTyrSerGlnAspIleLeuMetProLeuTrpThrSerTyrThrValAspArgAsnAspSerPheSerThrGluAspPheSerAsnCysLeuTyrGlnAspPheArgIleProLeuSerProValHisLysCysSerPheTyrLysAsnAsnThrLysValSerTyrGlyPheLeuSerProProGlnLeuAsnLysAsnSerSerGlyIleTyrSerGluAlaLeuLeuThrThrAsnIleValProMetTyrGlnSerPheGlnValIleTrpArgTyrPheHisAspThrLeuLeuArgLysTyrAlaGluGluArgAsnGlyValAsnValValSerGlyProValPheAspPheAspTyrAspGlyArgCysAspSerLeuGluAsnLeuArgGlnLysArgArgValIleArgAsnGlnGluIleLeuIleProThrHisPhePheIleValLeuThrSerCysLysAspThrSerGlnThrProLeuHisCysGluAsnLeuAspThrLeuAlaPheIleLeuProHisArgThrAspAsnSerGluSerCysValHisGlyLysHisAspSerSerTrpValGluGluLeuLeuMetLeuHisArgAlaArgIleThrAspValGluHisIleThrGlyLeuSerPheTyrGlnGlnArgLysGluProValSerAspIleLeuLysLeuLysThrHisLeuProThrPheSerGlnGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647893.1:c.783C>G"
          },
          "RefSeq": {
            "hgvs": "NM_006208.3:c.783C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498074.1:p.Tyr261Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006199.2:p.Tyr261Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}