{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3266346854",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.123_241dup (p.Pro81GlnfsTer26)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTC",
          "end": 10142088,
          "referenceAllele": "",
          "start": 10142088
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10141970_10142088dup",
        "CM000665.2:g.10141970_10142088dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTC",
          "end": 10183772,
          "referenceAllele": "",
          "start": 10183772
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183654_10183772dup",
        "CM000665.1:g.10183654_10183772dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTC",
          "end": 10158772,
          "referenceAllele": "",
          "start": 10158772
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158654_10158772dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTC",
          "end": 5454,
          "referenceAllele": "",
          "start": 5454
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5336_5454dup",
        "LRG_322:g.5336_5454dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTC",
          "end": 303,
          "referenceAllele": "",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.123_241dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:p.Pro81GlnfsTer26",
        "hgvsWellDefined": "ENSP00000512434.1:p.[Pro81_Leu85delinsGlnSer;Val87_Leu89delinsAlaArgArg;Phe91_Glu94delinsTrpAla;Gln96_Leu101delinsArgArgArgTrpArg;Pro103Gly;Thr105Arg;Arg107_His110delinsProCysCysAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTC",
          "end": 241,
          "referenceAllele": "",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.123_241dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:p.Pro81GlnfsTer26",
        "hgvsWellDefined": "ENSP00000512435.1:p.[Pro81_Leu85delinsGlnSer;Val87_Leu89delinsAlaArgArg;Phe91_Glu94delinsTrpAla;Gln96_Leu101delinsArgArgArgTrpArg;Pro103Gly;Thr105Arg;Arg107_His110delinsProCysCysAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTC",
          "end": 311,
          "referenceAllele": "",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.123_241dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Pro81GlnfsTer26",
        "hgvsWellDefined": "ENSP00000512444.1:p.[Pro81_Leu85delinsGlnSer;Val87_Leu89delinsAlaArgArg;Phe91_Glu94delinsTrpAla;Gln96_Leu101delinsArgArgArgTrpArg;Pro103Gly;Thr105Arg;Arg107_His110delinsProCysCysAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTC",
          "end": 311,
          "referenceAllele": "",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.123_241dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Pro81GlnfsTer26",
        "hgvsWellDefined": "ENSP00000256474.3:p.[Pro81_Leu85delinsGlnSer;Val87_Leu89delinsAlaArgArg;Phe91_Glu94delinsTrpAla;Gln96_Leu101delinsArgArgArgTrpArg;Pro103Gly;Thr105Arg;Arg107_His110delinsProCysCysAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.123_241dup"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.123_241dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Pro81GlnfsTer26"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Pro81GlnfsTer26"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTC",
          "end": 1081,
          "referenceAllele": "",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.123_241dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Pro81GlnfsTer26",
        "hgvsWellDefined": "ENSP00000256474.2:p.[Pro81_Leu85delinsGlnSer;Val87_Leu89delinsAlaArgArg;Phe91_Glu94delinsTrpAla;Gln96_Leu101delinsArgArgArgTrpArg;Pro103Gly;Thr105Arg;Arg107_His110delinsProCysCysAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTC",
          "end": 301,
          "referenceAllele": "",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.123_241dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Pro81GlnfsTer26",
        "hgvsWellDefined": "ENSP00000344757.2:p.[Pro81_Leu85delinsGlnSer;Val87_Leu89delinsAlaArgArg;Phe91_Glu94delinsTrpAla;Gln96_Leu101delinsArgArgArgTrpArg;Pro103Gly;Thr105Arg;Arg107_His110delinsProCysCysAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTC",
          "end": 454,
          "referenceAllele": "",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.123_241dup",
        "LRG_322t1:c.123_241dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Pro81GlnfsTer26",
        "hgvsWellDefined": "NP_000542.1:p.[Pro81_Leu85delinsGlnSer;Val87_Leu89delinsAlaArgArg;Phe91_Glu94delinsTrpAla;Gln96_Leu101delinsArgArgArgTrpArg;Pro103Gly;Thr105Arg;Arg107_His110delinsProCysCysAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTC",
          "end": 454,
          "referenceAllele": "",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.123_241dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Pro81GlnfsTer26",
        "hgvsWellDefined": "NP_937799.1:p.[Pro81_Leu85delinsGlnSer;Val87_Leu89delinsAlaArgArg;Phe91_Glu94delinsTrpAla;Gln96_Leu101delinsArgArgArgTrpArg;Pro103Gly;Thr105Arg;Arg107_His110delinsProCysCysAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTC",
          "end": 326,
          "referenceAllele": "",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.123_241dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Pro81GlnfsTer26",
        "hgvsWellDefined": "XP_011532380.1:p.[Pro81_Leu85delinsGlnSer;Val87_Leu89delinsAlaArgArg;Phe91_Glu94delinsTrpAla;Gln96_Leu101delinsArgArgArgTrpArg;Pro103Gly;Thr105Arg;Arg107_His110delinsProCysCysAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTC",
          "end": 454,
          "referenceAllele": "",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.123_241dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Pro81GlnfsTer26",
        "hgvsWellDefined": "NP_001341652.1:p.[Pro81_Leu85delinsGlnSer;Val87_Leu89delinsAlaArgArg;Phe91_Glu94delinsTrpAla;Gln96_Leu101delinsArgArgArgTrpArg;Pro103Gly;Thr105Arg;Arg107_His110delinsProCysCysAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTC",
          "end": 311,
          "referenceAllele": "",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.123_241dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Pro81GlnfsTer26",
        "hgvsWellDefined": "NP_000542.1:p.[Pro81_Leu85delinsGlnSer;Val87_Leu89delinsAlaArgArg;Phe91_Glu94delinsTrpAla;Gln96_Leu101delinsArgArgArgTrpArg;Pro103Gly;Thr105Arg;Arg107_His110delinsProCysCysAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.123_241dup"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.123_241dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Pro81GlnfsTer26"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Pro81GlnfsTer26"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTC",
          "end": 311,
          "referenceAllele": "",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.123_241dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Pro81GlnfsTer26",
        "hgvsWellDefined": "NP_001341652.1:p.[Pro81_Leu85delinsGlnSer;Val87_Leu89delinsAlaArgArg;Phe91_Glu94delinsTrpAla;Gln96_Leu101delinsArgArgArgTrpArg;Pro103Gly;Thr105Arg;Arg107_His110delinsProCysCysAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTC",
          "end": 311,
          "referenceAllele": "",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.123_241dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Pro81GlnfsTer26",
        "hgvsWellDefined": "NP_937799.1:p.[Pro81_Leu85delinsGlnSer;Val87_Leu89delinsAlaArgArg;Phe91_Glu94delinsTrpAla;Gln96_Leu101delinsArgArgArgTrpArg;Pro103Gly;Thr105Arg;Arg107_His110delinsProCysCysAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}