{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394564056",
  "communityStandardTitle": [
    "NM_004380.3(CREBBP):c.4395-2A>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1667688[alleleid]",
        "alleleId": 1667688,
        "preferredName": "NM_004380.3(CREBBP):c.4395-2A>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1676278",
        "RCV": [
          "RCV002221434"
        ],
        "variationId": 1676278
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3786818T>A?assembly=hg19",
        "id": "chr16:g.3786818T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3736817T>A?assembly=hg38",
        "id": "chr16:g.3736817T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2151330226",
        "rs": 2151330226
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3736817,
          "referenceAllele": "T",
          "start": 3736816
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3736817T>A",
        "CM000678.2:g.3736817T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3786818,
          "referenceAllele": "T",
          "start": 3786817
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3786818T>A",
        "CM000678.1:g.3786818T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3726819,
          "referenceAllele": "T",
          "start": 3726818
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3726819T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148304,
          "referenceAllele": "A",
          "start": 148303
        }
      ],
      "hgvs": [
        "NG_009873.1:g.148304A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148897,
          "referenceAllele": "A",
          "start": 148896
        }
      ],
      "hgvs": [
        "NG_009873.2:g.148897A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706099"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5191,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5191,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.10:c.4395-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:n.4395-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742326",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.4395-2A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.4395-2A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:n.4395-2A>T"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:n.4395-2A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5204,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5204,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.9:c.4395-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:n.4395-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4484,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4484,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000382070.7:c.4281-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371502.3:n.4281-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273605"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3029,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3029,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000570939.2:c.3030-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461002.2:n.3030-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 183,
          "referenceAllele": "A",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000571763.5:n.183A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 215,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 215,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000574740.1:n.216-2A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3217,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3217,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000576720.1:n.3218-2A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4484,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4484,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_001079846.1:c.4281-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073315.1:n.4281-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4598,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4598,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.2:c.4395-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:n.4395-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4422,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4422,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.3:c.4350-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:n.4350-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4050,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4050,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.3:c.3978-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:n.3978-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4206,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4206,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.2:c.4134-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:n.4134-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4355,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4355,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522380.1:c.4341-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520682.1:n.4341-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3656,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3656,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.1:c.3642-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:n.3642-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5160,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5160,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.4:c.4350-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:n.4350-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4788,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4788,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.4:c.3978-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:n.3978-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4944,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4944,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.3:c.4134-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:n.4134-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4087,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4087,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.2:c.3642-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:n.3642-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5199,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5199,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_017022944.1:c.4389-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878433.1:n.4389-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5191,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5191,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.3:c.4395-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:n.4395-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.4395-2A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.4395-2A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:n.4395-2A>T"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:n.4395-2A>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}