{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253975",
  "communityStandardTitle": [
    "NM_203486.3(DLL3):c.712C>T (p.Arg238Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21872[alleleid]",
        "alleleId": 21872,
        "preferredName": "NM_203486.3(DLL3):c.712C>T (p.Arg238Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6833",
        "RCV": [
          "RCV000007235",
          "RCV001558657"
        ],
        "variationId": 6833
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-39994770-C-T",
        "id": "19-39994770-C-T",
        "variant": "19:39994770 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.39994770C>T?assembly=hg19",
        "id": "chr19:g.39994770C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.39504130C>T?assembly=hg38",
        "id": "chr19:g.39504130C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894675",
        "rs": 104894675
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-39994770-C-T?dataset=gnomad_r2_1",
        "id": "19-39994770-C-T",
        "variant": "19:39994770 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-39504130-C-T?dataset=gnomad_r3",
        "id": "19-39504130-C-T",
        "variant": "19:39504130 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-39504130-C-T?dataset=gnomad_r4",
        "id": "19-39504130-C-T",
        "variant": "19:39504130 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 39504130,
          "referenceAllele": "C",
          "start": 39504129
        }
      ],
      "hgvs": [
        "NC_000019.10:g.39504130C>T",
        "CM000681.2:g.39504130C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 39994770,
          "referenceAllele": "C",
          "start": 39994769
        }
      ],
      "hgvs": [
        "NC_000019.9:g.39994770C>T",
        "CM000681.1:g.39994770C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 44686610,
          "referenceAllele": "C",
          "start": 44686609
        }
      ],
      "hgvs": [
        "NC_000019.8:g.44686610C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10214,
          "referenceAllele": "C",
          "start": 10213
        }
      ],
      "hgvs": [
        "NG_008256.1:g.10214C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000982"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "referenceAllele": "C",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002909",
      "geneNCBI_id": 10683,
      "geneSymbol": "DLL3",
      "hgvs": [
        "ENST00000356433.10:c.712C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000348810.4:p.Arg238_Ala587delinsCysLeuGluGlyTrpThrGlyProLeuCysThrValProValSerThrSerSerCysLeuSerProArgGlyProSerSerAlaThrThrGlyCysLeuValProGlyProGlyProCysAspGlyAsnProCysAlaAsnGlyGlySerCysSerGluThrProArgSerPheGluCysThrCysProArgGlyPheTyrGlyLeuArgCysGluValSerGlyValThrCysAlaAspGlyProCysPheAsnGlyGlyLeuCysValGlyGlyAlaAspProAspSerAlaTyrIleCysHisCysProProGlyPheGlnGlySerAsnCysGluLysArgValAspArgCysSerLeuGlnProCysArgAsnGlyGlyLeuCysLeuAspLeuGlyHisAlaLeuArgCysArgCysArgAlaGlyPheAlaGlyProArgCysGluHisAspLeuAspAspCysAlaGlyArgAlaCysAlaAsnGlyGlyThrCysValGluGlyGlyGlyAlaHisArgCysSerCysAlaLeuGlyPheGlyGlyArgAspCysArgGluArgAlaAspProCysAlaAlaArgProCysAlaHisGlyGlyArgCysTyrAlaHisPheSerGlyLeuValCysAlaCysAlaProGlyTyrMetGlyAlaArgCysGluPheProValHisProAspGlyAlaSerAlaLeuProAlaAlaProProGlyLeuArgProGlyAspProGlnArgTyrLeuLeuProProAlaLeuGlyLeuLeuValAlaAlaGlyValAlaGlyAlaAlaLeuLeuLeuValHisValArgArgArgGlyHisSerGlnAspAlaGlySerArgLeuLeuAlaGlyThrProGluProSerValHisAlaLeuProAspAlaLeuAsnAsnLeuArgThrGlnGluGlySerGlyAspGlyProSerSerSerValAspTrpAsnArgProGluAspValAspProGlnGlyIleTyrValIleSerAlaProSerIleTyrAlaArgGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748795",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356433.10:c.712C>T"
          },
          "RefSeq": {
            "hgvs": "NM_203486.3:c.712C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348810.4:p.Arg238Ter"
          },
          "RefSeq": {
            "hgvs": "NP_982353.1:p.Arg238Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002909",
      "geneNCBI_id": 10683,
      "geneSymbol": "DLL3",
      "hgvs": [
        "ENST00000205143.4:c.712C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205143.3:p.Arg238Ter",
        "hgvsWellDefined": "ENSP00000205143.3:p.Arg238_Lys618delinsCysLeuGluGlyTrpThrGlyProLeuCysThrValProValSerThrSerSerCysLeuSerProArgGlyProSerSerAlaThrThrGlyCysLeuValProGlyProGlyProCysAspGlyAsnProCysAlaAsnGlyGlySerCysSerGluThrProArgSerPheGluCysThrCysProArgGlyPheTyrGlyLeuArgCysGluValSerGlyValThrCysAlaAspGlyProCysPheAsnGlyGlyLeuCysValGlyGlyAlaAspProAspSerAlaTyrIleCysHisCysProProGlyPheGlnGlySerAsnCysGluLysArgValAspArgCysSerLeuGlnProCysArgAsnGlyGlyLeuCysLeuAspLeuGlyHisAlaLeuArgCysArgCysArgAlaGlyPheAlaGlyProArgCysGluHisAspLeuAspAspCysAlaGlyArgAlaCysAlaAsnGlyGlyThrCysValGluGlyGlyGlyAlaHisArgCysSerCysAlaLeuGlyPheGlyGlyArgAspCysArgGluArgAlaAspProCysAlaAlaArgProCysAlaHisGlyGlyArgCysTyrAlaHisPheSerGlyLeuValCysAlaCysAlaProGlyTyrMetGlyAlaArgCysGluPheProValHisProAspGlyAlaSerAlaLeuProAlaAlaProProGlyLeuArgProGlyAspProGlnArgTyrLeuLeuProProAlaLeuGlyLeuLeuValAlaAlaGlyValAlaGlyAlaAlaLeuLeuLeuValHisValArgArgArgGlyHisSerGlnAspAlaGlySerArgLeuLeuAlaGlyThrProGluProSerValHisAlaLeuProAspAlaLeuAsnAsnLeuArgThrGlnGluGlySerGlyAspGlyProSerSerSerValAspTrpAsnArgProGluAspValAspProGlnGlyIleTyrValIleSerAlaProSerIleTyrAlaArgGluValAlaThrProLeuPheProProLeuHisThrGlyArgAlaGlyGlnArgGlnHisLeuLeuPheProTyrProSerSerIleLeuSerValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "C",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002909",
      "geneNCBI_id": 10683,
      "geneSymbol": "DLL3",
      "hgvs": [
        "ENST00000356433.9:c.712C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348810.4:p.Arg238Ter",
        "hgvsWellDefined": "ENSP00000348810.4:p.Arg238_Ala587delinsCysLeuGluGlyTrpThrGlyProLeuCysThrValProValSerThrSerSerCysLeuSerProArgGlyProSerSerAlaThrThrGlyCysLeuValProGlyProGlyProCysAspGlyAsnProCysAlaAsnGlyGlySerCysSerGluThrProArgSerPheGluCysThrCysProArgGlyPheTyrGlyLeuArgCysGluValSerGlyValThrCysAlaAspGlyProCysPheAsnGlyGlyLeuCysValGlyGlyAlaAspProAspSerAlaTyrIleCysHisCysProProGlyPheGlnGlySerAsnCysGluLysArgValAspArgCysSerLeuGlnProCysArgAsnGlyGlyLeuCysLeuAspLeuGlyHisAlaLeuArgCysArgCysArgAlaGlyPheAlaGlyProArgCysGluHisAspLeuAspAspCysAlaGlyArgAlaCysAlaAsnGlyGlyThrCysValGluGlyGlyGlyAlaHisArgCysSerCysAlaLeuGlyPheGlyGlyArgAspCysArgGluArgAlaAspProCysAlaAlaArgProCysAlaHisGlyGlyArgCysTyrAlaHisPheSerGlyLeuValCysAlaCysAlaProGlyTyrMetGlyAlaArgCysGluPheProValHisProAspGlyAlaSerAlaLeuProAlaAlaProProGlyLeuArgProGlyAspProGlnArgTyrLeuLeuProProAlaLeuGlyLeuLeuValAlaAlaGlyValAlaGlyAlaAlaLeuLeuLeuValHisValArgArgArgGlyHisSerGlnAspAlaGlySerArgLeuLeuAlaGlyThrProGluProSerValHisAlaLeuProAspAlaLeuAsnAsnLeuArgThrGlnGluGlySerGlyAspGlyProSerSerSerValAspTrpAsnArgProGluAspValAspProGlnGlyIleTyrValIleSerAlaProSerIleTyrAlaArgGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 417,
          "endIntronDirection": "-",
          "endIntronOffset": 2908,
          "referenceAllele": "C",
          "start": 417,
          "startIntronDirection": "-",
          "startIntronOffset": 2909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002909",
      "geneNCBI_id": 10683,
      "geneSymbol": "DLL3",
      "hgvs": [
        "ENST00000596614.5:c.410-2909C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471688.1:n.410-2909C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395599"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "C",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002909",
      "geneNCBI_id": 10683,
      "geneSymbol": "DLL3",
      "hgvs": [
        "ENST00000600437.1:n.792C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253976",
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "C",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002909",
      "geneNCBI_id": 10683,
      "geneSymbol": "DLL3",
      "hgvs": [
        "NM_016941.3:c.712C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_058637.1:p.Arg238Ter",
        "hgvsWellDefined": "NP_058637.1:p.Arg238_Lys618delinsCysLeuGluGlyTrpThrGlyProLeuCysThrValProValSerThrSerSerCysLeuSerProArgGlyProSerSerAlaThrThrGlyCysLeuValProGlyProGlyProCysAspGlyAsnProCysAlaAsnGlyGlySerCysSerGluThrProArgSerPheGluCysThrCysProArgGlyPheTyrGlyLeuArgCysGluValSerGlyValThrCysAlaAspGlyProCysPheAsnGlyGlyLeuCysValGlyGlyAlaAspProAspSerAlaTyrIleCysHisCysProProGlyPheGlnGlySerAsnCysGluLysArgValAspArgCysSerLeuGlnProCysArgAsnGlyGlyLeuCysLeuAspLeuGlyHisAlaLeuArgCysArgCysArgAlaGlyPheAlaGlyProArgCysGluHisAspLeuAspAspCysAlaGlyArgAlaCysAlaAsnGlyGlyThrCysValGluGlyGlyGlyAlaHisArgCysSerCysAlaLeuGlyPheGlyGlyArgAspCysArgGluArgAlaAspProCysAlaAlaArgProCysAlaHisGlyGlyArgCysTyrAlaHisPheSerGlyLeuValCysAlaCysAlaProGlyTyrMetGlyAlaArgCysGluPheProValHisProAspGlyAlaSerAlaLeuProAlaAlaProProGlyLeuArgProGlyAspProGlnArgTyrLeuLeuProProAlaLeuGlyLeuLeuValAlaAlaGlyValAlaGlyAlaAlaLeuLeuLeuValHisValArgArgArgGlyHisSerGlnAspAlaGlySerArgLeuLeuAlaGlyThrProGluProSerValHisAlaLeuProAspAlaLeuAsnAsnLeuArgThrGlnGluGlySerGlyAspGlyProSerSerSerValAspTrpAsnArgProGluAspValAspProGlnGlyIleTyrValIleSerAlaProSerIleTyrAlaArgGluValAlaThrProLeuPheProProLeuHisThrGlyArgAlaGlyGlnArgGlnHisLeuLeuPheProTyrProSerSerIleLeuSerValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034898"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916070419",
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "C",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002909",
      "geneNCBI_id": 10683,
      "geneSymbol": "DLL3",
      "hgvs": [
        "NM_203486.2:c.712C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_982353.1:p.Arg238Ter",
        "hgvsWellDefined": "NP_982353.1:p.Arg238_Ala587delinsCysLeuGluGlyTrpThrGlyProLeuCysThrValProValSerThrSerSerCysLeuSerProArgGlyProSerSerAlaThrThrGlyCysLeuValProGlyProGlyProCysAspGlyAsnProCysAlaAsnGlyGlySerCysSerGluThrProArgSerPheGluCysThrCysProArgGlyPheTyrGlyLeuArgCysGluValSerGlyValThrCysAlaAspGlyProCysPheAsnGlyGlyLeuCysValGlyGlyAlaAspProAspSerAlaTyrIleCysHisCysProProGlyPheGlnGlySerAsnCysGluLysArgValAspArgCysSerLeuGlnProCysArgAsnGlyGlyLeuCysLeuAspLeuGlyHisAlaLeuArgCysArgCysArgAlaGlyPheAlaGlyProArgCysGluHisAspLeuAspAspCysAlaGlyArgAlaCysAlaAsnGlyGlyThrCysValGluGlyGlyGlyAlaHisArgCysSerCysAlaLeuGlyPheGlyGlyArgAspCysArgGluArgAlaAspProCysAlaAlaArgProCysAlaHisGlyGlyArgCysTyrAlaHisPheSerGlyLeuValCysAlaCysAlaProGlyTyrMetGlyAlaArgCysGluPheProValHisProAspGlyAlaSerAlaLeuProAlaAlaProProGlyLeuArgProGlyAspProGlnArgTyrLeuLeuProProAlaLeuGlyLeuLeuValAlaAlaGlyValAlaGlyAlaAlaLeuLeuLeuValHisValArgArgArgGlyHisSerGlnAspAlaGlySerArgLeuLeuAlaGlyThrProGluProSerValHisAlaLeuProAspAlaLeuAsnAsnLeuArgThrGlnGluGlySerGlyAspGlyProSerSerSerValAspTrpAsnArgProGluAspValAspProGlnGlyIleTyrValIleSerAlaProSerIleTyrAlaArgGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045230"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253976",
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "referenceAllele": "C",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002909",
      "geneNCBI_id": 10683,
      "geneSymbol": "DLL3",
      "hgvs": [
        "NM_016941.4:c.712C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_058637.1:p.Arg238Ter",
        "hgvsWellDefined": "NP_058637.1:p.Arg238_Lys618delinsCysLeuGluGlyTrpThrGlyProLeuCysThrValProValSerThrSerSerCysLeuSerProArgGlyProSerSerAlaThrThrGlyCysLeuValProGlyProGlyProCysAspGlyAsnProCysAlaAsnGlyGlySerCysSerGluThrProArgSerPheGluCysThrCysProArgGlyPheTyrGlyLeuArgCysGluValSerGlyValThrCysAlaAspGlyProCysPheAsnGlyGlyLeuCysValGlyGlyAlaAspProAspSerAlaTyrIleCysHisCysProProGlyPheGlnGlySerAsnCysGluLysArgValAspArgCysSerLeuGlnProCysArgAsnGlyGlyLeuCysLeuAspLeuGlyHisAlaLeuArgCysArgCysArgAlaGlyPheAlaGlyProArgCysGluHisAspLeuAspAspCysAlaGlyArgAlaCysAlaAsnGlyGlyThrCysValGluGlyGlyGlyAlaHisArgCysSerCysAlaLeuGlyPheGlyGlyArgAspCysArgGluArgAlaAspProCysAlaAlaArgProCysAlaHisGlyGlyArgCysTyrAlaHisPheSerGlyLeuValCysAlaCysAlaProGlyTyrMetGlyAlaArgCysGluPheProValHisProAspGlyAlaSerAlaLeuProAlaAlaProProGlyLeuArgProGlyAspProGlnArgTyrLeuLeuProProAlaLeuGlyLeuLeuValAlaAlaGlyValAlaGlyAlaAlaLeuLeuLeuValHisValArgArgArgGlyHisSerGlnAspAlaGlySerArgLeuLeuAlaGlyThrProGluProSerValHisAlaLeuProAspAlaLeuAsnAsnLeuArgThrGlnGluGlySerGlyAspGlyProSerSerSerValAspTrpAsnArgProGluAspValAspProGlnGlyIleTyrValIleSerAlaProSerIleTyrAlaArgGluValAlaThrProLeuPheProProLeuHisThrGlyArgAlaGlyGlnArgGlnHisLeuLeuPheProTyrProSerSerIleLeuSerValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916070419",
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "referenceAllele": "C",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002909",
      "geneNCBI_id": 10683,
      "geneSymbol": "DLL3",
      "hgvs": [
        "NM_203486.3:c.712C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_982353.1:p.Arg238Ter",
        "hgvsWellDefined": "NP_982353.1:p.Arg238_Ala587delinsCysLeuGluGlyTrpThrGlyProLeuCysThrValProValSerThrSerSerCysLeuSerProArgGlyProSerSerAlaThrThrGlyCysLeuValProGlyProGlyProCysAspGlyAsnProCysAlaAsnGlyGlySerCysSerGluThrProArgSerPheGluCysThrCysProArgGlyPheTyrGlyLeuArgCysGluValSerGlyValThrCysAlaAspGlyProCysPheAsnGlyGlyLeuCysValGlyGlyAlaAspProAspSerAlaTyrIleCysHisCysProProGlyPheGlnGlySerAsnCysGluLysArgValAspArgCysSerLeuGlnProCysArgAsnGlyGlyLeuCysLeuAspLeuGlyHisAlaLeuArgCysArgCysArgAlaGlyPheAlaGlyProArgCysGluHisAspLeuAspAspCysAlaGlyArgAlaCysAlaAsnGlyGlyThrCysValGluGlyGlyGlyAlaHisArgCysSerCysAlaLeuGlyPheGlyGlyArgAspCysArgGluArgAlaAspProCysAlaAlaArgProCysAlaHisGlyGlyArgCysTyrAlaHisPheSerGlyLeuValCysAlaCysAlaProGlyTyrMetGlyAlaArgCysGluPheProValHisProAspGlyAlaSerAlaLeuProAlaAlaProProGlyLeuArgProGlyAspProGlnArgTyrLeuLeuProProAlaLeuGlyLeuLeuValAlaAlaGlyValAlaGlyAlaAlaLeuLeuLeuValHisValArgArgArgGlyHisSerGlnAspAlaGlySerArgLeuLeuAlaGlyThrProGluProSerValHisAlaLeuProAspAlaLeuAsnAsnLeuArgThrGlnGluGlySerGlyAspGlyProSerSerSerValAspTrpAsnArgProGluAspValAspProGlnGlyIleTyrValIleSerAlaProSerIleTyrAlaArgGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701652",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356433.10:c.712C>T"
          },
          "RefSeq": {
            "hgvs": "NM_203486.3:c.712C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348810.4:p.Arg238Ter"
          },
          "RefSeq": {
            "hgvs": "NP_982353.1:p.Arg238Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}