{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA212905",
  "communityStandardTitle": [
    "NM_006204.4(PDE6C):c.256_257dup (p.Leu87GlyfsTer?)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23804[alleleid]",
        "alleleId": 23804,
        "preferredName": "NM_006204.4(PDE6C):c.256_257dup (p.Leu87fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8765",
        "RCV": [
          "RCV000009310",
          "RCV001851759"
        ],
        "variationId": 8765
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.95372738_95372739dupAG?assembly=hg19",
        "id": "chr10:g.95372738_95372739dupAG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.93612981_93612982dupAG?assembly=hg38",
        "id": "chr10:g.93612981_93612982dupAG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786200908",
        "rs": 786200908
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "AG",
          "end": 93612982,
          "referenceAllele": "",
          "start": 93612982
        }
      ],
      "hgvs": [
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        "CM000672.2:g.93612981_93612982dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "AG",
          "end": 95372739,
          "referenceAllele": "",
          "start": 95372739
        }
      ],
      "hgvs": [
        "NC_000010.10:g.95372738_95372739dup",
        "CM000672.1:g.95372738_95372739dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "AG",
          "end": 95362729,
          "referenceAllele": "",
          "start": 95362729
        }
      ],
      "hgvs": [
        "NC_000010.9:g.95362728_95362729dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 5395,
          "referenceAllele": "",
          "start": 5395
        }
      ],
      "hgvs": [
        "NG_016752.1:g.5394_5395dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003277"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 446,
          "referenceAllele": "",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008787",
      "geneNCBI_id": 5146,
      "geneSymbol": "PDE6C",
      "hgvs": [
        "ENST00000371447.4:c.256_257dup"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750793",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          },
          "RefSeq": {
            "hgvs": "NM_006204.4:c.256_257dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360502.3:p.Leu87GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_006195.3:p.Leu87GlyfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
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          "end": 395,
          "referenceAllele": "",
          "start": 395
        }
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        "ENST00000371447.3:c.256_257dup"
      ],
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        "hgvs": "ENSP00000360502.3:p.Leu87GlyfsTer?",
        "hgvsWellDefined": "ENSP00000360502.3:p.[Leu87_Asp94delinsGlyTrpProThrCysSer;Cys96_Leu100delinsLeuThrAlaAlaAla;Arg102del;Arg104_Asn105delinsCysAla;Ile107del;Glu109_Val110delinsGlyThr;Ser112delinsTyrLeu;Leu114delinsTrpPro;Leu115_Asp116insGlyCysTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268585"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 395,
          "referenceAllele": "",
          "start": 395
        }
      ],
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      "geneNCBI_id": 5146,
      "geneSymbol": "PDE6C",
      "hgvs": [
        "NM_006204.3:c.256_257dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_006195.3:p.Leu87GlyfsTer?",
        "hgvsWellDefined": "NP_006195.3:p.[Leu87_Asp94delinsGlyTrpProThrCysSer;Cys96_Leu100delinsLeuThrAlaAlaAla;Arg102del;Arg104_Asn105delinsCysAla;Ile107del;Glu109_Val110delinsGlyThr;Ser112delinsTyrLeu;Leu114delinsTrpPro;Leu115_Asp116insGlyCysTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031229"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 446,
          "referenceAllele": "",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008787",
      "geneNCBI_id": 5146,
      "geneSymbol": "PDE6C",
      "hgvs": [
        "NM_006204.4:c.256_257dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_006195.3:p.Leu87GlyfsTer?",
        "hgvsWellDefined": "NP_006195.3:p.[Leu87_Asp94delinsGlyTrpProThrCysSer;Cys96_Leu100delinsLeuThrAlaAlaAla;Arg102del;Arg104_Asn105delinsCysAla;Ile107del;Glu109_Val110delinsGlyThr;Ser112delinsTyrLeu;Leu114delinsTrpPro;Leu115_Asp116insGlyCysTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696642",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371447.4:c.256_257dup"
          },
          "RefSeq": {
            "hgvs": "NM_006204.4:c.256_257dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360502.3:p.Leu87GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_006195.3:p.Leu87GlyfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}