{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3266346872",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.191_269dup (p.Asn90LysfsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "GCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "end": 10142116,
          "referenceAllele": "",
          "start": 10142116
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10142038_10142116dup",
        "CM000665.2:g.10142038_10142116dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "GCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "end": 10183800,
          "referenceAllele": "",
          "start": 10183800
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183722_10183800dup",
        "CM000665.1:g.10183722_10183800dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "GCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "end": 10158800,
          "referenceAllele": "",
          "start": 10158800
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158722_10158800dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "GCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "end": 5482,
          "referenceAllele": "",
          "start": 5482
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5404_5482dup",
        "LRG_322:g.5404_5482dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "end": 331,
          "referenceAllele": "",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.191_269dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:p.Asn90LysfsTer?",
        "hgvsWellDefined": "ENSP00000512434.1:p.[Asn90_Asp92delinsLysLeu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Val114delinsArgArgAlaAlaAla;Met116_Thr117delinsProAsnAlaAlaAlaTrpHisGly;Val119delinsProHisProGlnLeuProSerProHisAspSerSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "GCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "end": 269,
          "referenceAllele": "",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.191_269dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:p.Asn90LysfsTer?",
        "hgvsWellDefined": "ENSP00000512435.1:p.[Asn90_Asp92delinsLysLeu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Val114delinsArgArgAlaAlaAla;Met116_Thr117delinsProAsnAlaAlaAlaTrpHisGly;Val119delinsProHisProGlnLeuProSerProHisAspSerSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "GCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "end": 339,
          "referenceAllele": "",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.191_269dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Asn90LysfsTer?",
        "hgvsWellDefined": "ENSP00000512444.1:p.[Asn90_Asp92delinsLysLeu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Arg113_Gly114insArgArgAlaAlaAlaLeuProAsnAlaAlaAlaTrpHis;Gly114_His115insProPro;His115_Leu116insProGln;Trp117delinsProArgSerPro;Phe119delinsAlaLeuGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "GCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "end": 339,
          "referenceAllele": "",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.191_269dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Asn90LysfsTer?",
        "hgvsWellDefined": "ENSP00000256474.3:p.[Asn90_Asp92delinsLysLeu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Arg113_Gly114insArgArgAlaAlaAlaLeuProAsnAlaAlaAlaTrpHis;Gly114_His115insProPro;His115_Leu116insProGln;Trp117delinsProArgSerPro;Phe119delinsAlaLeuGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.191_269dup"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.191_269dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Asn90LysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Asn90LysfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "end": 1109,
          "referenceAllele": "",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.191_269dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Asn90LysfsTer?",
        "hgvsWellDefined": "ENSP00000256474.2:p.[Asn90_Asp92delinsLysLeu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Arg113_Gly114insArgArgAlaAlaAlaLeuProAsnAlaAlaAlaTrpHis;Gly114_His115insProPro;His115_Leu116insProGln;Trp117delinsProArgSerPro;Phe119delinsAlaLeuGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "GCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "end": 329,
          "referenceAllele": "",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.191_269dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Asn90LysfsTer?",
        "hgvsWellDefined": "ENSP00000344757.2:p.[Asn90_Asp92delinsLysLeu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Val114_Thr116delinsArgArgAlaAlaAla;Lys118delinsProAsnAlaAlaAlaTrpHisGlyProProHisProGlnLeuProSerValTyrSer;Arg120_Cys121insAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "GCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "end": 482,
          "referenceAllele": "",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.191_269dup",
        "LRG_322t1:c.191_269dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Asn90LysfsTer?",
        "hgvsWellDefined": "NP_000542.1:p.[Asn90_Asp92delinsLysLeu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Arg113_Gly114insArgArgAlaAlaAlaLeuProAsnAlaAlaAlaTrpHis;Gly114_His115insProPro;His115_Leu116insProGln;Trp117delinsProArgSerPro;Phe119delinsAlaLeuGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "GCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "end": 482,
          "referenceAllele": "",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.191_269dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Asn90LysfsTer?",
        "hgvsWellDefined": "NP_937799.1:p.[Asn90_Asp92delinsLysLeu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Val114_Thr116delinsArgArgAlaAlaAla;Lys118delinsProAsnAlaAlaAlaTrpHisGlyProProHisProGlnLeuProSerValTyrSer;Arg120_Cys121insAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "GCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "end": 354,
          "referenceAllele": "",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.191_269dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Asn90LysfsTer?",
        "hgvsWellDefined": "XP_011532380.1:p.[Asn90_Asp92delinsLysLeu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Val114delinsArgArgAlaAlaAla;Met116_Thr117delinsProAsnAlaAlaAlaTrpHisGly;Val119delinsProHisProGlnLeuProSerProHisAspSerSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
          "allele": "GCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "end": 482,
          "referenceAllele": "",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.191_269dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Asn90LysfsTer?",
        "hgvsWellDefined": "NP_001341652.1:p.[Asn90_Asp92delinsLysLeu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Val114delinsArgArgAlaAlaAla;Met116_Thr117delinsProAsnAlaAlaAlaTrpHisGly;Val119delinsProHisProGlnLeuProSerProHisAspSerSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "coordinates": [
        {
          "allele": "GCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "end": 339,
          "referenceAllele": "",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.191_269dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Asn90LysfsTer?",
        "hgvsWellDefined": "NP_000542.1:p.[Asn90_Asp92delinsLysLeu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Arg113_Gly114insArgArgAlaAlaAlaLeuProAsnAlaAlaAlaTrpHis;Gly114_His115insProPro;His115_Leu116insProGln;Trp117delinsProArgSerPro;Phe119delinsAlaLeuGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.191_269dup"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.191_269dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Asn90LysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Asn90LysfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "end": 339,
          "referenceAllele": "",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.191_269dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Asn90LysfsTer?",
        "hgvsWellDefined": "NP_001341652.1:p.[Asn90_Asp92delinsLysLeu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Val114delinsArgArgAlaAlaAla;Met116_Thr117delinsProAsnAlaAlaAlaTrpHisGly;Val119delinsProHisProGlnLeuProSerProHisAspSerSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "coordinates": [
        {
          "allele": "GCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "end": 339,
          "referenceAllele": "",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.191_269dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Asn90LysfsTer?",
        "hgvsWellDefined": "NP_937799.1:p.[Asn90_Asp92delinsLysLeu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Val114_Thr116delinsArgArgAlaAlaAla;Lys118delinsProAsnAlaAlaAlaTrpHisGlyProProHisProGlnLeuProSerValTyrSer;Arg120_Cys121insAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}