{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16608189",
  "communityStandardTitle": [
    "NM_004380.3(CREBBP):c.2302C>T (p.Arg768Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5622421",
        "active": true,
        "id": "COSM5622421"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=377560[alleleid]",
        "alleleId": 377560,
        "preferredName": "NM_004380.3(CREBBP):c.2302C>T (p.Arg768Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379578",
        "RCV": [
          "RCV000431043",
          "RCV001851047"
        ],
        "variationId": 379578
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3823913G>A?assembly=hg19",
        "id": "chr16:g.3823913G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3773912G>A?assembly=hg38",
        "id": "chr16:g.3773912G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520652",
        "rs": 1057520652
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3823913-G-A?dataset=gnomad_r2_1",
        "id": "16-3823913-G-A",
        "variant": "16:3823913 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3773912-G-A?dataset=gnomad_r4",
        "id": "16-3773912-G-A",
        "variant": "16:3773912 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3773912,
          "referenceAllele": "G",
          "start": 3773911
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3773912G>A",
        "CM000678.2:g.3773912G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3823913,
          "referenceAllele": "G",
          "start": 3823912
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3823913G>A",
        "CM000678.1:g.3823913G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3763914,
          "referenceAllele": "G",
          "start": 3763913
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3763914G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111209,
          "referenceAllele": "C",
          "start": 111208
        }
      ],
      "hgvs": [
        "NG_009873.1:g.111209C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111802,
          "referenceAllele": "C",
          "start": 111801
        }
      ],
      "hgvs": [
        "NG_009873.2:g.111802C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706099"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3099,
          "referenceAllele": "C",
          "start": 3098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.10:c.2302C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Arg768Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742326",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.2302C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.2302C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Arg768Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Arg768Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3112,
          "referenceAllele": "C",
          "start": 3111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.9:c.2302C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Arg768Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2392,
          "referenceAllele": "C",
          "start": 2391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000382070.7:c.2188C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371502.3:p.Arg730Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273605"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 907,
          "referenceAllele": "C",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000570939.2:c.907C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461002.2:p.Arg303Ter",
        "hgvsWellDefined": "ENSP00000461002.2:p.Arg303Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 351,
          "referenceAllele": "C",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000571826.5:c.351C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000572134.1:c.570C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000575237.2:n.197C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2392,
          "referenceAllele": "C",
          "start": 2391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_001079846.1:c.2188C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073315.1:p.Arg730Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2506,
          "referenceAllele": "C",
          "start": 2505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.2:c.2302C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Arg768Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2330,
          "referenceAllele": "C",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.3:c.2257C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Arg753Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2375,
          "referenceAllele": "C",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.3:c.2302C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.Arg768Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2375,
          "referenceAllele": "C",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.2:c.2302C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Arg768Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2263,
          "referenceAllele": "C",
          "start": 2262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522380.1:c.2248C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520682.1:p.Arg750Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1564,
          "referenceAllele": "C",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.1:c.1549C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Arg517Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2375,
          "referenceAllele": "C",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522382.1:c.2302C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520684.1:p.Arg768Ter",
        "hgvsWellDefined": "XP_011520684.1:p.Arg768_Glu1286delinsMetProGlnProProAsnMetMetGlyAlaHisThrAsnAsnMetMetAlaGlnAlaProAlaGlnSerGlnPheLeuProGlnAsnGlnPheProSerSerSerGlyAlaMetSerValGlyMetGlyGlnProProAlaGlnThrGlyValSerGlnGlyGlnValProGlyAlaAlaLeuProAsnProLeuAsnMetLeuGlyProGlnAlaSerGlnLeuProCysProProValThrGlnSerProLeuHisProThrProProProAlaSerThrAlaAlaGlyMetProSerLeuGlnHisThrThrProProGlyMetThrProProGlnProAlaAlaProThrGlnProSerThrProValSerSerSerGlyGlnThrProThrProThrProGlySerValProSerAlaThrGlnThrGlnSerThrProThrValGlnAlaAlaAlaGlnAlaGlnValThrProGlnProGlnThrProValGlnProProSerValAlaThrProGlnSerSerGlnGlnGlnProThrProValHisAlaGlnProProGlyThrProLeuSerGlnAlaAlaAlaSerIleAspAsnArgValProThrProSerSerValAlaSerAlaGluThrAsnSerGlnGlnProGlyProAspValProValLeuGluMetLysThrGluThrGlnAlaGluAspThrGluProAspProGlyGluSerLysGlyGluProArgSerGluMetMetGluGluAspLeuGlnGlyAlaSerGlnValLysGluGluThrAspIleAlaGluGlnLysSerGluProMetGluValAspGluLysLysProGluValLysValGluValLysGluGluGluGluSerSerSerAsnGlyThrAlaSerGlnSerThrSerProSerGlnProArgLysLysIlePheLysProGluGluLeuArgGlnAlaLeuMetProThrLeuGluAlaLeuTyrArgGlnAspProGluSerLeuProPheArgGlnProValAspProGlnLeuLeuGlyIleProAspTyrPheAspIleValLysAsnProMetAspLeuSerThrIleLysArgLysLeuAspThrGlyGlnTyrGlnGluProTrpGlnTyrValAspAspValTrpLeuMetPheAsnAsnAlaTrpLeuTyrAsnArgLysThrSerArgValTyrLysPheCysSerLysLeuAlaGluValPheGluGlnGluIleAspProValMetGlnSerLeuGlyTyrCysCysGlyArgLysTyrGluPheSerProGlnThrLeuCysCysTyrGlyLysGlnLeuCysThrIleProArgAspAlaAlaTyrTyrSerTyrGlnAsnArgTyrHisPheCysGluLysCysPheThrGluIleGlnGlyGluAsnValThrLeuGlyAspAspProSerGlnProGlnThrThrIleSerLysAspGlnPheGluLysLysLysAsnAspThrLeuAspProGluProGluIleGlyArgLysGluGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3068,
          "referenceAllele": "C",
          "start": 3067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.4:c.2257C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Arg753Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3113,
          "referenceAllele": "C",
          "start": 3112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.4:c.2302C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.Arg768Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3113,
          "referenceAllele": "C",
          "start": 3112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.3:c.2302C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Arg768Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1995,
          "referenceAllele": "C",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.2:c.1549C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Arg517Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3113,
          "referenceAllele": "C",
          "start": 3112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522382.3:c.2302C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520684.1:p.Arg768Ter",
        "hgvsWellDefined": "XP_011520684.1:p.Arg768_Glu1286delinsMetProGlnProProAsnMetMetGlyAlaHisThrAsnAsnMetMetAlaGlnAlaProAlaGlnSerGlnPheLeuProGlnAsnGlnPheProSerSerSerGlyAlaMetSerValGlyMetGlyGlnProProAlaGlnThrGlyValSerGlnGlyGlnValProGlyAlaAlaLeuProAsnProLeuAsnMetLeuGlyProGlnAlaSerGlnLeuProCysProProValThrGlnSerProLeuHisProThrProProProAlaSerThrAlaAlaGlyMetProSerLeuGlnHisThrThrProProGlyMetThrProProGlnProAlaAlaProThrGlnProSerThrProValSerSerSerGlyGlnThrProThrProThrProGlySerValProSerAlaThrGlnThrGlnSerThrProThrValGlnAlaAlaAlaGlnAlaGlnValThrProGlnProGlnThrProValGlnProProSerValAlaThrProGlnSerSerGlnGlnGlnProThrProValHisAlaGlnProProGlyThrProLeuSerGlnAlaAlaAlaSerIleAspAsnArgValProThrProSerSerValAlaSerAlaGluThrAsnSerGlnGlnProGlyProAspValProValLeuGluMetLysThrGluThrGlnAlaGluAspThrGluProAspProGlyGluSerLysGlyGluProArgSerGluMetMetGluGluAspLeuGlnGlyAlaSerGlnValLysGluGluThrAspIleAlaGluGlnLysSerGluProMetGluValAspGluLysLysProGluValLysValGluValLysGluGluGluGluSerSerSerAsnGlyThrAlaSerGlnSerThrSerProSerGlnProArgLysLysIlePheLysProGluGluLeuArgGlnAlaLeuMetProThrLeuGluAlaLeuTyrArgGlnAspProGluSerLeuProPheArgGlnProValAspProGlnLeuLeuGlyIleProAspTyrPheAspIleValLysAsnProMetAspLeuSerThrIleLysArgLysLeuAspThrGlyGlnTyrGlnGluProTrpGlnTyrValAspAspValTrpLeuMetPheAsnAsnAlaTrpLeuTyrAsnArgLysThrSerArgValTyrLysPheCysSerLysLeuAlaGluValPheGluGlnGluIleAspProValMetGlnSerLeuGlyTyrCysCysGlyArgLysTyrGluPheSerProGlnThrLeuCysCysTyrGlyLysGlnLeuCysThrIleProArgAspAlaAlaTyrTyrSerTyrGlnAsnArgTyrHisPheCysGluLysCysPheThrGluIleGlnGlyGluAsnValThrLeuGlyAspAspProSerGlnProGlnThrThrIleSerLysAspGlnPheGluLysLysLysAsnAspThrLeuAspProGluProGluIleGlyArgLysGluGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3113,
          "referenceAllele": "C",
          "start": 3112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_017022944.1:c.2302C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878433.1:p.Arg768Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3099,
          "referenceAllele": "C",
          "start": 3098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.3:c.2302C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Arg768Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.2302C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.2302C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Arg768Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Arg768Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}