{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA173992",
  "communityStandardTitle": [
    "NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=170953[alleleid]",
        "alleleId": 170953,
        "preferredName": "NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/161109",
        "RCV": [
          "RCV000148290",
          "RCV000788671",
          "RCV002515995"
        ],
        "variationId": 161109
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.204735350C>T?assembly=hg19",
        "id": "chr2:g.204735350C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.203870627C>T?assembly=hg38",
        "id": "chr2:g.203870627C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/606231417",
        "rs": 606231417
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 203870627,
          "referenceAllele": "C",
          "start": 203870626
        }
      ],
      "hgvs": [
        "NC_000002.12:g.203870627C>T",
        "CM000664.2:g.203870627C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 204735350,
          "referenceAllele": "C",
          "start": 204735349
        }
      ],
      "hgvs": [
        "NC_000002.11:g.204735350C>T",
        "CM000664.1:g.204735350C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 204443595,
          "referenceAllele": "C",
          "start": 204443594
        }
      ],
      "hgvs": [
        "NC_000002.10:g.204443595C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7842,
          "referenceAllele": "C",
          "start": 7841
        }
      ],
      "hgvs": [
        "NG_011502.1:g.7842C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001770"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "C",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002505",
      "geneNCBI_id": 1493,
      "geneSymbol": "CTLA4",
      "hgvs": [
        "ENST00000696049.1:c.151C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512353.1:p.Arg51Ter",
        "hgvsWellDefined": "ENSP00000512353.1:p.Arg51_Asn203delinsGlyIleAlaSerPheValCysGluTyrAlaSerProGlyLysAlaThrGluValArgValThrValLeuArgGlnAlaAspSerGlnValThrGluValCysAlaAlaThrTyrMetMetGlyAsnGluLeuThrPheLeuAspAspSerIleCysThrGlyThrSerSerGlyAsnGlnValAsnLeuThrIleGlnGlyLeuArgAlaMetAspThrGlyLeuTyrIleCysLysValGluLeuMetTyrProProProTyrTyrLeuGlyIleGlyAsnGlyThrGlnIleTyrValIleAspProGluProCysProAspSerAspPheLeuLeuTrpIleLeuAlaAlaLeuLysLysArgSerProLeuThrThrGlyValTyrValLysMetProProThrGluProGluCysGluLysGlnPheGlnProTyrPheIleProIleAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002505",
      "geneNCBI_id": 1493,
      "geneSymbol": "CTLA4",
      "hgvs": [
        "ENST00000696479.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512655.1:p.Arg75Ter",
        "hgvsWellDefined": "ENSP00000512655.1:p.Arg75_Asn247delinsGlyIleAlaSerPheValCysGluTyrAlaSerProGlyLysAlaThrGluValArgValThrValLeuArgGlnAlaAspSerGlnValThrGluValCysAlaAlaThrTyrMetMetGlyAsnGluLeuThrPheLeuAspAspSerIleCysThrGlyThrSerSerGlyAsnGlnValAsnLeuThrIleGlnGlyLeuArgAlaMetAspThrGlyLeuTyrIleCysLysValGluLeuMetTyrProProProTyrTyrLeuGlyIleGlyAsnGlyThrGlnIleTyrValIleAspProGluProCysProAspSerAspPheLeuLeuTrpIleLeuAlaAlaValSerSerGlyLeuPhePheTyrSerPheLeuLeuThrAlaValSerLeuSerLysMetLeuLysLysArgSerProLeuThrThrGlyValTyrValLysMetProProThrGluProGluCysGluLysGlnPheGlnProTyrPheIleProIleAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 185,
          "referenceAllele": "C",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002505",
      "geneNCBI_id": 1493,
      "geneSymbol": "CTLA4",
      "hgvs": [
        "ENST00000427473.3:n.185C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "C",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002505",
      "geneNCBI_id": 1493,
      "geneSymbol": "CTLA4",
      "hgvs": [
        "ENST00000648405.2:c.151C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497102.1:p.Arg51Ter",
        "hgvsWellDefined": "ENSP00000497102.1:p.Arg51_Asn223delinsGlyIleAlaSerPheValCysGluTyrAlaSerProGlyLysAlaThrGluValArgValThrValLeuArgGlnAlaAspSerGlnValThrGluValCysAlaAlaThrTyrMetMetGlyAsnGluLeuThrPheLeuAspAspSerIleCysThrGlyThrSerSerGlyAsnGlnValAsnLeuThrIleGlnGlyLeuArgAlaMetAspThrGlyLeuTyrIleCysLysValGluLeuMetTyrProProProTyrTyrLeuGlyIleGlyAsnGlyThrGlnIleTyrValIleAspProGluProCysProAspSerAspPheLeuLeuTrpIleLeuAlaAlaValSerSerGlyLeuPhePheTyrSerPheLeuLeuThrAlaValSerLeuSerLysMetLeuLysLysArgSerProLeuThrThrGlyValTyrValLysMetProProThrGluProGluCysGluLysGlnPheGlnProTyrPheIleProIleAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769961",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648405.2:c.151C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005214.5:c.151C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497102.1:p.Arg51Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005205.2:p.Arg51Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "referenceAllele": "C",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002505",
      "geneNCBI_id": 1493,
      "geneSymbol": "CTLA4",
      "hgvs": [
        "ENST00000650075.1:n.175C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 151,
          "referenceAllele": "C",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002505",
      "geneNCBI_id": 1493,
      "geneSymbol": "CTLA4",
      "hgvs": [
        "ENST00000295854.10:c.151C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295854.6:p.Arg51Ter",
        "hgvsWellDefined": "ENSP00000295854.6:p.Arg51_Met174delinsGlyIleAlaSerPheValCysGluTyrAlaSerProGlyLysAlaThrGluValArgValThrValLeuArgGlnAlaAspSerGlnValThrGluValCysAlaAlaThrTyrMetMetGlyAsnGluLeuThrPheLeuAspAspSerIleCysThrGlyThrSerSerGlyAsnGlnValAsnLeuThrIleGlnGlyLeuArgAlaMetAspThrGlyLeuTyrIleCysLysValGluLeuMetTyrProProProTyrTyrLeuGlyIleGlyAsnGlyThrGlnIleTyrValIleAlaLysGluLysLysProSerTyrAsnArgGlyLeuCysGluAsnAlaProAsnArgAlaArgMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 308,
          "referenceAllele": "C",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002505",
      "geneNCBI_id": 1493,
      "geneSymbol": "CTLA4",
      "hgvs": [
        "ENST00000302823.7:c.151C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303939.3:p.Arg51Ter",
        "hgvsWellDefined": "ENSP00000303939.3:p.Arg51_Asn223delinsGlyIleAlaSerPheValCysGluTyrAlaSerProGlyLysAlaThrGluValArgValThrValLeuArgGlnAlaAspSerGlnValThrGluValCysAlaAlaThrTyrMetMetGlyAsnGluLeuThrPheLeuAspAspSerIleCysThrGlyThrSerSerGlyAsnGlnValAsnLeuThrIleGlnGlyLeuArgAlaMetAspThrGlyLeuTyrIleCysLysValGluLeuMetTyrProProProTyrTyrLeuGlyIleGlyAsnGlyThrGlnIleTyrValIleAspProGluProCysProAspSerAspPheLeuLeuTrpIleLeuAlaAlaValSerSerGlyLeuPhePheTyrSerPheLeuLeuThrAlaValSerLeuSerLysMetLeuLysLysArgSerProLeuThrThrGlyValTyrValLysMetProProThrGluProGluCysGluLysGlnPheGlnProTyrPheIleProIleAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255239"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 185,
          "referenceAllele": "C",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002505",
      "geneNCBI_id": 1493,
      "geneSymbol": "CTLA4",
      "hgvs": [
        "ENST00000427473.2:c.40C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409707.2:p.Arg14Ter",
        "hgvsWellDefined": "ENSP00000409707.2:p.Arg14_Met137delinsGlyIleAlaSerPheValCysGluTyrAlaSerProGlyLysAlaThrGluValArgValThrValLeuArgGlnAlaAspSerGlnValThrGluValCysAlaAlaThrTyrMetMetGlyAsnGluLeuThrPheLeuAspAspSerIleCysThrGlyThrSerSerGlyAsnGlnValAsnLeuThrIleGlnGlyLeuArgAlaMetAspThrGlyLeuTyrIleCysLysValGluLeuMetTyrProProProTyrTyrLeuGlyIleGlyAsnGlyThrGlnIleTyrValIleAlaLysGluLysLysProSerTyrAsnArgGlyLeuCysGluAsnAlaProAsnArgAlaArgMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289715"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 151,
          "referenceAllele": "C",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002505",
      "geneNCBI_id": 1493,
      "geneSymbol": "CTLA4",
      "hgvs": [
        "ENST00000472206.1:c.151C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417779.1:p.Arg51Ter",
        "hgvsWellDefined": "ENSP00000417779.1:p.Arg51_Met79delinsGlyIleAlaSerPheValSerLysGluLysLysProSerTyrAsnArgGlyLeuCysGluAsnAlaProAsnArgAlaArgMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314239"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 109,
          "endIntronDirection": "-",
          "endIntronOffset": 2080,
          "referenceAllele": "C",
          "start": 109,
          "startIntronDirection": "-",
          "startIntronOffset": 2081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002505",
      "geneNCBI_id": 1493,
      "geneSymbol": "CTLA4",
      "hgvs": [
        "ENST00000487393.1:n.110-2081C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825380969",
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "referenceAllele": "C",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002505",
      "geneNCBI_id": 1493,
      "geneSymbol": "CTLA4",
      "hgvs": [
        "NM_001037631.2:c.151C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032720.1:p.Arg51Ter",
        "hgvsWellDefined": "NP_001032720.1:p.Arg51_Met174delinsGlyIleAlaSerPheValCysGluTyrAlaSerProGlyLysAlaThrGluValArgValThrValLeuArgGlnAlaAspSerGlnValThrGluValCysAlaAlaThrTyrMetMetGlyAsnGluLeuThrPheLeuAspAspSerIleCysThrGlyThrSerSerGlyAsnGlnValAsnLeuThrIleGlnGlyLeuArgAlaMetAspThrGlyLeuTyrIleCysLysValGluLeuMetTyrProProProTyrTyrLeuGlyIleGlyAsnGlyThrGlnIleTyrValIleAlaLysGluLysLysProSerTyrAsnArgGlyLeuCysGluAsnAlaProAsnArgAlaArgMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009285"
    },
    {
      "@id": "http://reg.genome.network/allele/PA173993",
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "referenceAllele": "C",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002505",
      "geneNCBI_id": 1493,
      "geneSymbol": "CTLA4",
      "hgvs": [
        "NM_005214.4:c.151C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005205.2:p.Arg51Ter",
        "hgvsWellDefined": "NP_005205.2:p.Arg51_Asn223delinsGlyIleAlaSerPheValCysGluTyrAlaSerProGlyLysAlaThrGluValArgValThrValLeuArgGlnAlaAspSerGlnValThrGluValCysAlaAlaThrTyrMetMetGlyAsnGluLeuThrPheLeuAspAspSerIleCysThrGlyThrSerSerGlyAsnGlnValAsnLeuThrIleGlnGlyLeuArgAlaMetAspThrGlyLeuTyrIleCysLysValGluLeuMetTyrProProProTyrTyrLeuGlyIleGlyAsnGlyThrGlnIleTyrValIleAspProGluProCysProAspSerAspPheLeuLeuTrpIleLeuAlaAlaValSerSerGlyLeuPhePheTyrSerPheLeuLeuThrAlaValSerLeuSerLysMetLeuLysLysArgSerProLeuThrThrGlyValTyrValLysMetProProThrGluProGluCysGluLysGlnPheGlnProTyrPheIleProIleAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 291,
          "referenceAllele": "C",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002505",
      "geneNCBI_id": 1493,
      "geneSymbol": "CTLA4",
      "hgvs": [
        "XR_241294.1:n.291C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116017"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825380969",
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "C",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002505",
      "geneNCBI_id": 1493,
      "geneSymbol": "CTLA4",
      "hgvs": [
        "NM_001037631.3:c.151C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032720.1:p.Arg51Ter",
        "hgvsWellDefined": "NP_001032720.1:p.Arg51_Met174delinsGlyIleAlaSerPheValCysGluTyrAlaSerProGlyLysAlaThrGluValArgValThrValLeuArgGlnAlaAspSerGlnValThrGluValCysAlaAlaThrTyrMetMetGlyAsnGluLeuThrPheLeuAspAspSerIleCysThrGlyThrSerSerGlyAsnGlnValAsnLeuThrIleGlnGlyLeuArgAlaMetAspThrGlyLeuTyrIleCysLysValGluLeuMetTyrProProProTyrTyrLeuGlyIleGlyAsnGlyThrGlnIleTyrValIleAlaLysGluLysLysProSerTyrAsnArgGlyLeuCysGluAsnAlaProAsnArgAlaArgMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA173993",
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "C",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002505",
      "geneNCBI_id": 1493,
      "geneSymbol": "CTLA4",
      "hgvs": [
        "NM_005214.5:c.151C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005205.2:p.Arg51Ter",
        "hgvsWellDefined": "NP_005205.2:p.Arg51_Asn223delinsGlyIleAlaSerPheValCysGluTyrAlaSerProGlyLysAlaThrGluValArgValThrValLeuArgGlnAlaAspSerGlnValThrGluValCysAlaAlaThrTyrMetMetGlyAsnGluLeuThrPheLeuAspAspSerIleCysThrGlyThrSerSerGlyAsnGlnValAsnLeuThrIleGlnGlyLeuArgAlaMetAspThrGlyLeuTyrIleCysLysValGluLeuMetTyrProProProTyrTyrLeuGlyIleGlyAsnGlyThrGlnIleTyrValIleAspProGluProCysProAspSerAspPheLeuLeuTrpIleLeuAlaAlaValSerSerGlyLeuPhePheTyrSerPheLeuLeuThrAlaValSerLeuSerLysMetLeuLysLysArgSerProLeuThrThrGlyValTyrValLysMetProProThrGluProGluCysGluLysGlnPheGlnProTyrPheIleProIleAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648405.2:c.151C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005214.5:c.151C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497102.1:p.Arg51Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005205.2:p.Arg51Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}