{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA271422",
  "communityStandardTitle": [
    "NM_004380.3(CREBBP):c.4792del (p.Ser1598AlafsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=169221[alleleid]",
        "alleleId": 169221,
        "preferredName": "NM_004380.3(CREBBP):c.4792del (p.Ser1598fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158382",
        "RCV": [
          "RCV000145762"
        ],
        "variationId": 158382
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3781875del?assembly=hg19",
        "id": "chr16:g.3781875del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3731874del?assembly=hg38",
        "id": "chr16:g.3731874del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587783500",
        "rs": 587783500
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 3731877,
          "referenceAllele": "T",
          "start": 3731876
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3731877del",
        "CM000678.2:g.3731877del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 3781878,
          "referenceAllele": "T",
          "start": 3781877
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3781878del",
        "CM000678.1:g.3781878del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 3721879,
          "referenceAllele": "T",
          "start": 3721878
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3721879del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 153247,
          "referenceAllele": "A",
          "start": 153246
        }
      ],
      "hgvs": [
        "NG_009873.1:g.153247del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001679"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 153840,
          "referenceAllele": "A",
          "start": 153839
        }
      ],
      "hgvs": [
        "NG_009873.2:g.153840del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706099"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5589,
          "referenceAllele": "A",
          "start": 5588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.10:c.4792del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Ser1598AlafsTer?",
        "hgvsWellDefined": "ENSP00000262367.5:p.[Ser1598_Ile1600delinsAlaAla;Arg1602Ala;Asn1604_Lys1607delinsProThrArgArgSer;Ser1609_Met1610delinsAlaCys;Asn1612_Lys1627delinsThrCysProMetThrCysProArgSerCysMetProProTrpArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742326",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.4792del"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.4792del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Ser1598AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Ser1598AlafsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5602,
          "referenceAllele": "A",
          "start": 5601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.9:c.4792del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Ser1598AlafsTer?",
        "hgvsWellDefined": "ENSP00000262367.5:p.[Ser1598_Ile1600delinsAlaAla;Arg1602Ala;Asn1604_Lys1607delinsProThrArgArgSer;Ser1609_Met1610delinsAlaCys;Asn1612_Lys1627delinsThrCysProMetThrCysProArgSerCysMetProProTrpArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250998"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4882,
          "referenceAllele": "A",
          "start": 4881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000382070.7:c.4678del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371502.3:p.Ser1560AlafsTer?",
        "hgvsWellDefined": "ENSP00000371502.3:p.[Ser1560_Ile1562delinsAlaAla;Arg1564Ala;Asn1566_Lys1569delinsProThrArgArgSer;Ser1571_Met1572delinsAlaCys;Asn1574_Lys1589delinsThrCysProMetThrCysProArgSerCysMetProProTrpArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273605"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4882,
          "referenceAllele": "A",
          "start": 4881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_001079846.1:c.4678del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073315.1:p.Ser1560AlafsTer?",
        "hgvsWellDefined": "NP_001073315.1:p.[Ser1560_Ile1562delinsAlaAla;Arg1564Ala;Asn1566_Lys1569delinsProThrArgArgSer;Ser1571_Met1572delinsAlaCys;Asn1574_Lys1589delinsThrCysProMetThrCysProArgSerCysMetProProTrpArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010110"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4996,
          "referenceAllele": "A",
          "start": 4995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.2:c.4792del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Ser1598AlafsTer?",
        "hgvsWellDefined": "NP_004371.2:p.[Ser1598_Ile1600delinsAlaAla;Arg1602Ala;Asn1604_Lys1607delinsProThrArgArgSer;Ser1609_Met1610delinsAlaCys;Asn1612_Lys1627delinsThrCysProMetThrCysProArgSerCysMetProProTrpArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029543"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4820,
          "referenceAllele": "A",
          "start": 4819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.3:c.4747del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Ser1583AlafsTer?",
        "hgvsWellDefined": "XP_005255181.1:p.[Ser1583_Ile1585delinsAlaAla;Arg1587Ala;Asn1589_Lys1592delinsProThrArgArgSer;Ser1594_Met1595delinsAlaCys;Asn1597_Lys1612delinsThrCysProMetThrCysProArgSerCysMetProProTrpArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060845"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4448,
          "referenceAllele": "A",
          "start": 4447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.3:c.4375del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.Ser1459AlafsTer?",
        "hgvsWellDefined": "XP_005255182.1:p.[Ser1459_Ile1461delinsAlaAla;Arg1463Ala;Asn1465_Lys1468delinsProThrArgArgSer;Ser1470_Met1471delinsAlaCys;Asn1473_Lys1488delinsThrCysProMetThrCysProArgSerCysMetProProTrpArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060846"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4604,
          "referenceAllele": "A",
          "start": 4603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.2:c.4531del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Ser1511AlafsTer?",
        "hgvsWellDefined": "XP_006720911.1:p.[Ser1511_Ile1513delinsAlaAla;Arg1515Ala;Asn1517_Lys1520delinsProThrArgArgSer;Ser1522_Met1523delinsAlaCys;Asn1525_Lys1540delinsThrCysProMetThrCysProArgSerCysMetProProTrpArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073834"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4753,
          "referenceAllele": "A",
          "start": 4752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522380.1:c.4738del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520682.1:p.Ser1580AlafsTer?",
        "hgvsWellDefined": "XP_011520682.1:p.[Ser1580_Ile1582delinsAlaAla;Arg1584Ala;Asn1586_Lys1589delinsProThrArgArgSer;Ser1591_Met1592delinsAlaCys;Asn1594_Lys1609delinsThrCysProMetThrCysProArgSerCysMetProProTrpArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089532"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4054,
          "referenceAllele": "A",
          "start": 4053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.1:c.4039del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Ser1347AlafsTer?",
        "hgvsWellDefined": "XP_011520683.1:p.[Ser1347_Ile1349delinsAlaAla;Arg1351Ala;Asn1353_Lys1356delinsProThrArgArgSer;Ser1358_Met1359delinsAlaCys;Asn1361_Lys1376delinsThrCysProMetThrCysProArgSerCysMetProProTrpArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089533"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5558,
          "referenceAllele": "A",
          "start": 5557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.4:c.4747del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Ser1583AlafsTer?",
        "hgvsWellDefined": "XP_005255181.1:p.[Ser1583_Ile1585delinsAlaAla;Arg1587Ala;Asn1589_Lys1592delinsProThrArgArgSer;Ser1594_Met1595delinsAlaCys;Asn1597_Lys1612delinsThrCysProMetThrCysProArgSerCysMetProProTrpArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534225"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5186,
          "referenceAllele": "A",
          "start": 5185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.4:c.4375del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.Ser1459AlafsTer?",
        "hgvsWellDefined": "XP_005255182.1:p.[Ser1459_Ile1461delinsAlaAla;Arg1463Ala;Asn1465_Lys1468delinsProThrArgArgSer;Ser1470_Met1471delinsAlaCys;Asn1473_Lys1488delinsThrCysProMetThrCysProArgSerCysMetProProTrpArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534226"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5342,
          "referenceAllele": "A",
          "start": 5341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.3:c.4531del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Ser1511AlafsTer?",
        "hgvsWellDefined": "XP_006720911.1:p.[Ser1511_Ile1513delinsAlaAla;Arg1515Ala;Asn1517_Lys1520delinsProThrArgArgSer;Ser1522_Met1523delinsAlaCys;Asn1525_Lys1540delinsThrCysProMetThrCysProArgSerCysMetProProTrpArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540179"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4485,
          "referenceAllele": "A",
          "start": 4484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.2:c.4039del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Ser1347AlafsTer?",
        "hgvsWellDefined": "XP_011520683.1:p.[Ser1347_Ile1349delinsAlaAla;Arg1351Ala;Asn1353_Lys1356delinsProThrArgArgSer;Ser1358_Met1359delinsAlaCys;Asn1361_Lys1376delinsThrCysProMetThrCysProArgSerCysMetProProTrpArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546568"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5597,
          "referenceAllele": "A",
          "start": 5596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_017022944.1:c.4786del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878433.1:p.Ser1596AlafsTer?",
        "hgvsWellDefined": "XP_016878433.1:p.[Ser1596_Ile1598delinsAlaAla;Arg1600Ala;Asn1602_Lys1605delinsProThrArgArgSer;Ser1607_Met1608delinsAlaCys;Asn1610_Lys1625delinsThrCysProMetThrCysProArgSerCysMetProProTrpArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573784"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5589,
          "referenceAllele": "A",
          "start": 5588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.3:c.4792del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Ser1598AlafsTer?",
        "hgvsWellDefined": "NP_004371.2:p.[Ser1598_Ile1600delinsAlaAla;Arg1602Ala;Asn1604_Lys1607delinsProThrArgArgSer;Ser1609_Met1610delinsAlaCys;Asn1612_Lys1627delinsThrCysProMetThrCysProArgSerCysMetProProTrpArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.4792del"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.4792del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Ser1598AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Ser1598AlafsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}