{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3266346853",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.123_235dup (p.Arg79GlnfsTer26)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 10142082,
          "referenceAllele": "",
          "start": 10142082
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10141970_10142082dup",
        "CM000665.2:g.10141970_10142082dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 10183766,
          "referenceAllele": "",
          "start": 10183766
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183654_10183766dup",
        "CM000665.1:g.10183654_10183766dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 10158766,
          "referenceAllele": "",
          "start": 10158766
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158654_10158766dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 5448,
          "referenceAllele": "",
          "start": 5448
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5336_5448dup",
        "LRG_322:g.5336_5448dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 297,
          "referenceAllele": "",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.123_235dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:p.Arg79GlnfsTer26",
        "hgvsWellDefined": "ENSP00000512434.1:p.[Arg79Gln;Arg82_Val87delinsAlaArgArgAsn;Leu89_Gln96delinsAlaProArgArgArgTrpArg;Tyr98_Leu101delinsGlyGlyArgGly;Pro103_Arg107delinsCysCysAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 235,
          "referenceAllele": "",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.123_235dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:p.Arg79GlnfsTer26",
        "hgvsWellDefined": "ENSP00000512435.1:p.[Arg79Gln;Arg82_Val87delinsAlaArgArgAsn;Leu89_Gln96delinsAlaProArgArgArgTrpArg;Tyr98_Leu101delinsGlyGlyArgGly;Pro103_Arg107delinsCysCysAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 305,
          "referenceAllele": "",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.123_235dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Arg79GlnfsTer26",
        "hgvsWellDefined": "ENSP00000512444.1:p.[Arg79Gln;Arg82_Val87delinsAlaArgArgAsn;Leu89_Gln96delinsAlaProArgArgArgTrpArg;Tyr98_Leu101delinsGlyGlyArgGly;Pro103_Arg107delinsCysCysAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 305,
          "referenceAllele": "",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.123_235dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Arg79GlnfsTer26",
        "hgvsWellDefined": "ENSP00000256474.3:p.[Arg79Gln;Arg82_Val87delinsAlaArgArgAsn;Leu89_Gln96delinsAlaProArgArgArgTrpArg;Tyr98_Leu101delinsGlyGlyArgGly;Pro103_Arg107delinsCysCysAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.123_235dup"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.123_235dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Arg79GlnfsTer26"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Arg79GlnfsTer26"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 1075,
          "referenceAllele": "",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.123_235dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Arg79GlnfsTer26",
        "hgvsWellDefined": "ENSP00000256474.2:p.[Arg79Gln;Arg82_Val87delinsAlaArgArgAsn;Leu89_Gln96delinsAlaProArgArgArgTrpArg;Tyr98_Leu101delinsGlyGlyArgGly;Pro103_Arg107delinsCysCysAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 295,
          "referenceAllele": "",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.123_235dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Arg79GlnfsTer26",
        "hgvsWellDefined": "ENSP00000344757.2:p.[Arg79Gln;Arg82_Val87delinsAlaArgArgAsn;Leu89_Gln96delinsAlaProArgArgArgTrpArg;Tyr98_Leu101delinsGlyGlyArgGly;Pro103_Arg107delinsCysCysAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 448,
          "referenceAllele": "",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.123_235dup",
        "LRG_322t1:c.123_235dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Arg79GlnfsTer26",
        "hgvsWellDefined": "NP_000542.1:p.[Arg79Gln;Arg82_Val87delinsAlaArgArgAsn;Leu89_Gln96delinsAlaProArgArgArgTrpArg;Tyr98_Leu101delinsGlyGlyArgGly;Pro103_Arg107delinsCysCysAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 448,
          "referenceAllele": "",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.123_235dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Arg79GlnfsTer26",
        "hgvsWellDefined": "NP_937799.1:p.[Arg79Gln;Arg82_Val87delinsAlaArgArgAsn;Leu89_Gln96delinsAlaProArgArgArgTrpArg;Tyr98_Leu101delinsGlyGlyArgGly;Pro103_Arg107delinsCysCysAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 320,
          "referenceAllele": "",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.123_235dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Arg79GlnfsTer26",
        "hgvsWellDefined": "XP_011532380.1:p.[Arg79Gln;Arg82_Val87delinsAlaArgArgAsn;Leu89_Gln96delinsAlaProArgArgArgTrpArg;Tyr98_Leu101delinsGlyGlyArgGly;Pro103_Arg107delinsCysCysAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 448,
          "referenceAllele": "",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.123_235dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Arg79GlnfsTer26",
        "hgvsWellDefined": "NP_001341652.1:p.[Arg79Gln;Arg82_Val87delinsAlaArgArgAsn;Leu89_Gln96delinsAlaProArgArgArgTrpArg;Tyr98_Leu101delinsGlyGlyArgGly;Pro103_Arg107delinsCysCysAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 305,
          "referenceAllele": "",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.123_235dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Arg79GlnfsTer26",
        "hgvsWellDefined": "NP_000542.1:p.[Arg79Gln;Arg82_Val87delinsAlaArgArgAsn;Leu89_Gln96delinsAlaProArgArgArgTrpArg;Tyr98_Leu101delinsGlyGlyArgGly;Pro103_Arg107delinsCysCysAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.123_235dup"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.123_235dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Arg79GlnfsTer26"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Arg79GlnfsTer26"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 305,
          "referenceAllele": "",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.123_235dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Arg79GlnfsTer26",
        "hgvsWellDefined": "NP_001341652.1:p.[Arg79Gln;Arg82_Val87delinsAlaArgArgAsn;Leu89_Gln96delinsAlaProArgArgArgTrpArg;Tyr98_Leu101delinsGlyGlyArgGly;Pro103_Arg107delinsCysCysAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "coordinates": [
        {
          "allele": "AGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 305,
          "referenceAllele": "",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.123_235dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Arg79GlnfsTer26",
        "hgvsWellDefined": "NP_937799.1:p.[Arg79Gln;Arg82_Val87delinsAlaArgArgAsn;Leu89_Gln96delinsAlaProArgArgArgTrpArg;Tyr98_Leu101delinsGlyGlyArgGly;Pro103_Arg107delinsCysCysAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}