{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA270742",
  "communityStandardTitle": [
    "NM_000307.5(POU3F4):c.652del (p.Ala218ArgfsTer23)"
  ],
  "externalRecords": {
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      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.82763983del?assembly=hg19",
        "id": "chrX:g.82763983del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.83508975del?assembly=hg38",
        "id": "chrX:g.83508975del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606975",
        "rs": 267606975
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 83508976,
          "referenceAllele": "G",
          "start": 83508975
        }
      ],
      "hgvs": [
        "NC_000023.11:g.83508976del",
        "CM000685.2:g.83508976del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 82763984,
          "referenceAllele": "G",
          "start": 82763983
        }
      ],
      "hgvs": [
        "NC_000023.10:g.82763984del",
        "CM000685.1:g.82763984del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 82650640,
          "referenceAllele": "G",
          "start": 82650639
        }
      ],
      "hgvs": [
        "NC_000023.9:g.82650640del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5716,
          "referenceAllele": "G",
          "start": 5715
        }
      ],
      "hgvs": [
        "NG_009936.2:g.5716del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001702"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 687,
          "referenceAllele": "G",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009217",
      "geneNCBI_id": 5456,
      "geneSymbol": "POU3F4",
      "hgvs": [
        "ENST00000644024.2:c.652del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495996.1:p.Ala218ArgfsTer23",
        "hgvsWellDefined": "ENSP00000495996.1:p.[Ala218_Asn225delinsArgTrpAlaHisCysMet;Phe227_Gln229del;Thr231_Cys233delinsCysSerArg;Phe235_Leu240delinsProProSerAlaGly;Phe242_Met245delinsArgPro;Lys247Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767594",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644024.2:c.652del"
          },
          "RefSeq": {
            "hgvs": "NM_000307.5:c.652del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495996.1:p.Ala218ArgfsTer23"
          },
          "RefSeq": {
            "hgvs": "NP_000298.3:p.Ala218ArgfsTer23"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 727,
          "referenceAllele": "G",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009217",
      "geneNCBI_id": 5456,
      "geneSymbol": "POU3F4",
      "hgvs": [
        "ENST00000373200.4:c.652del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362296.2:p.Ala218ArgfsTer23",
        "hgvsWellDefined": "ENSP00000362296.2:p.[Ala218_Asn225delinsArgTrpAlaHisCysMet;Phe227_Gln229del;Thr231_Cys233delinsCysSerArg;Phe235_Leu240delinsProProSerAlaGly;Phe242_Met245delinsArgPro;Lys247Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269557"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 716,
          "referenceAllele": "G",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009217",
      "geneNCBI_id": 5456,
      "geneSymbol": "POU3F4",
      "hgvs": [
        "NM_000307.4:c.652del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000298.3:p.Ala218ArgfsTer23",
        "hgvsWellDefined": "NP_000298.3:p.[Ala218_Asn225delinsArgTrpAlaHisCysMet;Phe227_Gln229del;Thr231_Cys233delinsCysSerArg;Phe235_Leu240delinsProProSerAlaGly;Phe242_Met245delinsArgPro;Lys247Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 687,
          "referenceAllele": "G",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009217",
      "geneNCBI_id": 5456,
      "geneSymbol": "POU3F4",
      "hgvs": [
        "NM_000307.5:c.652del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000298.3:p.Ala218ArgfsTer23",
        "hgvsWellDefined": "NP_000298.3:p.[Ala218_Asn225delinsArgTrpAlaHisCysMet;Phe227_Gln229del;Thr231_Cys233delinsCysSerArg;Phe235_Leu240delinsProProSerAlaGly;Phe242_Met245delinsArgPro;Lys247Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674781",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644024.2:c.652del"
          },
          "RefSeq": {
            "hgvs": "NM_000307.5:c.652del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495996.1:p.Ala218ArgfsTer23"
          },
          "RefSeq": {
            "hgvs": "NP_000298.3:p.Ala218ArgfsTer23"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}