{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2695197165",
  "communityStandardTitle": [
    "NM_000307.5(POU3F4):c.607_610dup (p.Arg204ThrfsTer23)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2670264[alleleid]",
        "alleleId": 2670264,
        "preferredName": "NM_000307.5(POU3F4):c.607_610dup (p.Arg204fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2505306",
        "RCV": [
          "RCV003445223"
        ],
        "variationId": 2505306
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/876657719",
        "rs": 876657719
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "CAAA",
          "end": 83508934,
          "referenceAllele": "",
          "start": 83508934
        }
      ],
      "hgvs": [
        "NC_000023.11:g.83508931_83508934dup",
        "CM000685.2:g.83508931_83508934dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "CAAA",
          "end": 82763942,
          "referenceAllele": "",
          "start": 82763942
        }
      ],
      "hgvs": [
        "NC_000023.10:g.82763939_82763942dup",
        "CM000685.1:g.82763939_82763942dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "CAAA",
          "end": 82650598,
          "referenceAllele": "",
          "start": 82650598
        }
      ],
      "hgvs": [
        "NC_000023.9:g.82650595_82650598dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "CAAA",
          "end": 5674,
          "referenceAllele": "",
          "start": 5674
        }
      ],
      "hgvs": [
        "NG_009936.2:g.5671_5674dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001702"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CAAA",
          "end": 645,
          "referenceAllele": "",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009217",
      "geneNCBI_id": 5456,
      "geneSymbol": "POU3F4",
      "hgvs": [
        "ENST00000644024.2:c.607_610dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495996.1:p.Arg204ThrfsTer23",
        "hgvsWellDefined": "ENSP00000495996.1:p.[Arg204_Ile206delinsThrLys;Leu208_Thr211delinsAsn;Ala213_Asp214del;Ala218_Leu219delinsHisAla;Thr221_Tyr223delinsArgArg;Asn225del;Phe227_Thr230delinsGlyAlaGlyHis;Ile232_Cys233delinsValTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767594",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644024.2:c.607_610dup"
          },
          "RefSeq": {
            "hgvs": "NM_000307.5:c.607_610dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495996.1:p.Arg204ThrfsTer23"
          },
          "RefSeq": {
            "hgvs": "NP_000298.3:p.Arg204ThrfsTer23"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CAAA",
          "end": 685,
          "referenceAllele": "",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009217",
      "geneNCBI_id": 5456,
      "geneSymbol": "POU3F4",
      "hgvs": [
        "ENST00000373200.4:c.607_610dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362296.2:p.Arg204ThrfsTer23",
        "hgvsWellDefined": "ENSP00000362296.2:p.[Arg204_Ile206delinsThrLys;Leu208_Thr211delinsAsn;Ala213_Asp214del;Ala218_Leu219delinsHisAla;Thr221_Tyr223delinsArgArg;Asn225del;Phe227_Thr230delinsGlyAlaGlyHis;Ile232_Cys233delinsValTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269557"
    },
    {
      "coordinates": [
        {
          "allele": "CAAA",
          "end": 674,
          "referenceAllele": "",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009217",
      "geneNCBI_id": 5456,
      "geneSymbol": "POU3F4",
      "hgvs": [
        "NM_000307.4:c.607_610dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000298.3:p.Arg204ThrfsTer23",
        "hgvsWellDefined": "NP_000298.3:p.[Arg204_Ile206delinsThrLys;Leu208_Thr211delinsAsn;Ala213_Asp214del;Ala218_Leu219delinsHisAla;Thr221_Tyr223delinsArgArg;Asn225del;Phe227_Thr230delinsGlyAlaGlyHis;Ile232_Cys233delinsValTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006368"
    },
    {
      "coordinates": [
        {
          "allele": "CAAA",
          "end": 645,
          "referenceAllele": "",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009217",
      "geneNCBI_id": 5456,
      "geneSymbol": "POU3F4",
      "hgvs": [
        "NM_000307.5:c.607_610dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000298.3:p.Arg204ThrfsTer23",
        "hgvsWellDefined": "NP_000298.3:p.[Arg204_Ile206delinsThrLys;Leu208_Thr211delinsAsn;Ala213_Asp214del;Ala218_Leu219delinsHisAla;Thr221_Tyr223delinsArgArg;Asn225del;Phe227_Thr230delinsGlyAlaGlyHis;Ile232_Cys233delinsValTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674781",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644024.2:c.607_610dup"
          },
          "RefSeq": {
            "hgvs": "NM_000307.5:c.607_610dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495996.1:p.Arg204ThrfsTer23"
          },
          "RefSeq": {
            "hgvs": "NP_000298.3:p.Arg204ThrfsTer23"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}