{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16616765",
  "communityStandardTitle": [
    "NM_002700.3(POU4F3):c.662_675del (p.Gly221GlufsTer?)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=107268[alleleid]",
        "alleleId": 107268,
        "preferredName": "NM_002700.3(POU4F3):c.662_675del (p.Gly221fs)"
      }
    ],
    "ClinVarVariations": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/101525",
        "RCV": [
          "RCV000087754"
        ],
        "variationId": 101525
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.145719652_145719665del?assembly=hg19",
        "id": "chr5:g.145719652_145719665del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.146340089_146340102del?assembly=hg38",
        "id": "chr5:g.146340089_146340102del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064792854",
        "rs": 1064792854
      }
    ]
  },
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    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 146340102,
          "referenceAllele": "GCTCGCTGAGCCAA",
          "start": 146340088
        }
      ],
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        "CM000667.2:g.146340089_146340102del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 145719665,
          "referenceAllele": "GCTCGCTGAGCCAA",
          "start": 145719651
        }
      ],
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        "CM000667.1:g.145719652_145719665del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 145699858,
          "referenceAllele": "GCTCGCTGAGCCAA",
          "start": 145699844
        }
      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6079,
          "referenceAllele": "GCTCGCTGAGCCAA",
          "start": 6065
        }
      ],
      "hgvs": [
        "NG_011885.1:g.6066_6079del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS002048"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 949,
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        }
      ],
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      "geneNCBI_id": 5459,
      "geneSymbol": "POU4F3",
      "hgvs": [
        "ENST00000646991.2:c.662_675del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495718.1:p.Gly221GlufsTer?",
        "hgvsWellDefined": "ENSP00000495718.1:p.[Gly221_Ser224delinsGluHisHisLeu;Ser226_Glu232delinsValArgValSerHis;Thr235_Ser237delinsAlaGlnGln;Asn239_Ile242delinsAspArgSerGln;Leu244_Lys245delinsGlyAla;Val247Gly;Gln249_Ala255delinsValGlyGlyGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769178",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          },
          "RefSeq": {
            "hgvs": "NM_002700.3:c.662_675del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495718.1:p.Gly221GlufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_002691.1:p.Gly221GlufsTer?"
          }
        }
      }
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    {
      "coordinates": [
        {
          "allele": "",
          "end": 764,
          "referenceAllele": "GCTCGCTGAGCCAA",
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      "geneNCBI_id": 5459,
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      "hgvs": [
        "ENST00000230732.4:c.662_675del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000230732.4:p.Gly221GlufsTer?",
        "hgvsWellDefined": "ENSP00000230732.4:p.[Gly221_Ser224delinsGluHisHisLeu;Ser226_Glu232delinsValArgValSerHis;Thr235_Ser237delinsAlaGlnGln;Asn239_Ile242delinsAspArgSerGln;Leu244_Lys245delinsGlyAla;Val247Gly;Gln249_Ala255delinsValGlyGlyGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248762"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 764,
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          "start": 750
        }
      ],
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      "geneNCBI_id": 5459,
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      "hgvs": [
        "NM_002700.2:c.662_675del"
      ],
      "proteinEffect": {
        "hgvs": "NP_002691.1:p.Gly221GlufsTer?",
        "hgvsWellDefined": "NP_002691.1:p.[Gly221_Ser224delinsGluHisHisLeu;Ser226_Glu232delinsValArgValSerHis;Thr235_Ser237delinsAlaGlnGln;Asn239_Ile242delinsAspArgSerGln;Leu244_Lys245delinsGlyAla;Val247Gly;Gln249_Ala255delinsValGlyGlyGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027988"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 949,
          "referenceAllele": "GCTCGCTGAGCCAA",
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      "geneNCBI_id": 5459,
      "geneSymbol": "POU4F3",
      "hgvs": [
        "NM_002700.3:c.662_675del"
      ],
      "proteinEffect": {
        "hgvs": "NP_002691.1:p.Gly221GlufsTer?",
        "hgvsWellDefined": "NP_002691.1:p.[Gly221_Ser224delinsGluHisHisLeu;Ser226_Glu232delinsValArgValSerHis;Thr235_Ser237delinsAlaGlnGln;Asn239_Ile242delinsAspArgSerGln;Leu244_Lys245delinsGlyAla;Val247Gly;Gln249_Ala255delinsValGlyGlyGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665664",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646991.2:c.662_675del"
          },
          "RefSeq": {
            "hgvs": "NM_002700.3:c.662_675del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495718.1:p.Gly221GlufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_002691.1:p.Gly221GlufsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}