{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA271371",
  "communityStandardTitle": [
    "NM_004380.3(CREBBP):c.2122_2123del (p.Leu708ValfsTer17)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=169254[alleleid]",
        "alleleId": 169254,
        "preferredName": "NM_004380.3(CREBBP):c.2122_2123del (p.Leu708fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158345",
        "RCV": [
          "RCV000145723"
        ],
        "variationId": 158345
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3827649_3827650del?assembly=hg19",
        "id": "chr16:g.3827649_3827650del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3777648_3777649del?assembly=hg38",
        "id": "chr16:g.3777648_3777649del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587783470",
        "rs": 587783470
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 3777649,
          "referenceAllele": "AG",
          "start": 3777647
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3777648_3777649del",
        "CM000678.2:g.3777648_3777649del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 3827650,
          "referenceAllele": "AG",
          "start": 3827648
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3827649_3827650del",
        "CM000678.1:g.3827649_3827650del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 3767651,
          "referenceAllele": "AG",
          "start": 3767649
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3767650_3767651del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 107473,
          "referenceAllele": "CT",
          "start": 107471
        }
      ],
      "hgvs": [
        "NG_009873.1:g.107472_107473del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001679"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 108066,
          "referenceAllele": "CT",
          "start": 108064
        }
      ],
      "hgvs": [
        "NG_009873.2:g.108065_108066del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706099"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2920,
          "referenceAllele": "CT",
          "start": 2918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.10:c.2122_2123del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Leu708ValfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742326",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.2122_2123del"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.2122_2123del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Leu708ValfsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Leu708ValfsTer17"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2933,
          "referenceAllele": "CT",
          "start": 2931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.9:c.2122_2123del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Leu708ValfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250998"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2213,
          "referenceAllele": "CT",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000382070.7:c.2008_2009del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371502.3:p.Leu670ValfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273605"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 728,
          "referenceAllele": "CT",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000570939.2:c.727_728del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461002.2:p.Leu243ValfsTer17",
        "hgvsWellDefined": "ENSP00000461002.2:p.[Leu243_Leu245delinsVal;Val247_Val252delinsAlaSerGlu;Gln254_Asn257delinsHisAla;Asn260_Met262del;Leu264_Ala272delinsArgAspGluPheIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382300"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 172,
          "referenceAllele": "CT",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000571826.5:c.171_172del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382665"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 426,
          "endIntronDirection": "+",
          "endIntronOffset": 363,
          "referenceAllele": "CT",
          "start": 426,
          "startIntronDirection": "+",
          "startIntronOffset": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000572134.1:c.426+362_426+363del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382794"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2213,
          "referenceAllele": "CT",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_001079846.1:c.2008_2009del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073315.1:p.Leu670ValfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010110"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2327,
          "referenceAllele": "CT",
          "start": 2325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.2:c.2122_2123del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Leu708ValfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029543"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2186,
          "endIntronDirection": "+",
          "endIntronOffset": 363,
          "referenceAllele": "CT",
          "start": 2186,
          "startIntronDirection": "+",
          "startIntronOffset": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.3:c.2113+362_2113+363del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:n.2113+362_2113+363del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060845"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2196,
          "referenceAllele": "CT",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.3:c.2122_2123del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.Leu708ValfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060846"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2196,
          "referenceAllele": "CT",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.2:c.2122_2123del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Leu708ValfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073834"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2084,
          "referenceAllele": "CT",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522380.1:c.2068_2069del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520682.1:p.Leu690ValfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089532"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1385,
          "referenceAllele": "CT",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.1:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Leu457ValfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089533"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2196,
          "referenceAllele": "CT",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522382.1:c.2122_2123del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520684.1:p.Leu708ValfsTer17",
        "hgvsWellDefined": "XP_011520684.1:p.[Leu708_Leu710delinsVal;Val712_Val717delinsAlaSerGlu;Gln719_Asn722delinsHisAla;Asn725_Met727del;Leu729_Ala737delinsArgAspGluPheIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089534"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2924,
          "endIntronDirection": "+",
          "endIntronOffset": 363,
          "referenceAllele": "CT",
          "start": 2924,
          "startIntronDirection": "+",
          "startIntronOffset": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.4:c.2113+362_2113+363del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:n.2113+362_2113+363del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534225"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2934,
          "referenceAllele": "CT",
          "start": 2932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.4:c.2122_2123del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.Leu708ValfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534226"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2934,
          "referenceAllele": "CT",
          "start": 2932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.3:c.2122_2123del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Leu708ValfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540179"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1816,
          "referenceAllele": "CT",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.2:c.1369_1370del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Leu457ValfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546568"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2934,
          "referenceAllele": "CT",
          "start": 2932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522382.3:c.2122_2123del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520684.1:p.Leu708ValfsTer17",
        "hgvsWellDefined": "XP_011520684.1:p.[Leu708_Leu710delinsVal;Val712_Val717delinsAlaSerGlu;Gln719_Asn722delinsHisAla;Asn725_Met727del;Leu729_Ala737delinsArgAspGluPheIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546569"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2934,
          "referenceAllele": "CT",
          "start": 2932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_017022944.1:c.2122_2123del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878433.1:p.Leu708ValfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573784"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2920,
          "referenceAllele": "CT",
          "start": 2918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.3:c.2122_2123del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Leu708ValfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.2122_2123del"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.2122_2123del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Leu708ValfsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Leu708ValfsTer17"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}