{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA148123",
  "communityStandardTitle": [
    "NM_004380.3(CREBBP):c.3837-8C>T"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM148009"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=100945[alleleid]",
        "alleleId": 100945,
        "preferredName": "NM_004380.3(CREBBP):c.3837-8C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/95045",
        "RCV": [
          "RCV000081050",
          "RCV001711192",
          "RCV001515137"
        ],
        "variationId": 95045
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-3795363-G-A",
        "id": "16-3795363-G-A",
        "variant": "16:3795363 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3795363G>A?assembly=hg19",
        "id": "chr16:g.3795363G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3745362G>A?assembly=hg38",
        "id": "chr16:g.3745362G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3025684",
        "rs": 3025684
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3795363-G-A?dataset=gnomad_r2_1",
        "id": "16-3795363-G-A",
        "variant": "16:3795363 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3745362-G-A?dataset=gnomad_r3",
        "id": "16-3745362-G-A",
        "variant": "16:3745362 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3745362-G-A?dataset=gnomad_r4",
        "id": "16-3745362-G-A",
        "variant": "16:3745362 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3745362,
          "referenceAllele": "G",
          "start": 3745361
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3745362G>A",
        "CM000678.2:g.3745362G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3795363,
          "referenceAllele": "G",
          "start": 3795362
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3795363G>A",
        "CM000678.1:g.3795363G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3735364,
          "referenceAllele": "G",
          "start": 3735363
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3735364G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 139759,
          "referenceAllele": "C",
          "start": 139758
        }
      ],
      "hgvs": [
        "NG_009873.1:g.139759C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 140352,
          "referenceAllele": "C",
          "start": 140351
        }
      ],
      "hgvs": [
        "NG_009873.2:g.140352C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706099"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4633,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 4633,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.10:c.3837-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:n.3837-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742326",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.3837-8C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.3837-8C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:n.3837-8C>T"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:n.3837-8C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4646,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 4646,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.9:c.3837-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:n.3837-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3926,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 3926,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000382070.7:c.3723-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371502.3:n.3723-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273605"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2471,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 2471,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000570939.2:c.2472-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461002.2:n.2472-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 293,
          "referenceAllele": "C",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000572569.1:n.293C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 142,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 142,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000573517.6:c.143-8C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3926,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 3926,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_001079846.1:c.3723-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073315.1:n.3723-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4040,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 4040,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.2:c.3837-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:n.3837-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3864,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 3864,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.3:c.3792-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:n.3792-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3492,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 3492,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.3:c.3420-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:n.3420-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3909,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 3909,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.2:c.3837-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:n.3837-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3797,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 3797,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522380.1:c.3783-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520682.1:n.3783-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3098,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 3098,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.1:c.3084-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:n.3084-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4602,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 4602,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.4:c.3792-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:n.3792-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4230,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 4230,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.4:c.3420-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:n.3420-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4647,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 4647,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.3:c.3837-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:n.3837-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3529,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 3529,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.2:c.3084-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:n.3084-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4641,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 4641,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_017022944.1:c.3831-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878433.1:n.3831-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4633,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 4633,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.3:c.3837-8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:n.3837-8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.3837-8C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.3837-8C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:n.3837-8C>T"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:n.3837-8C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}