{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3266346875",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.192_273dup (p.Asp92LeufsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "CTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTC",
          "end": 10142120,
          "referenceAllele": "",
          "start": 10142120
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10142039_10142120dup",
        "CM000665.2:g.10142039_10142120dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "CTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTC",
          "end": 10183804,
          "referenceAllele": "",
          "start": 10183804
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183723_10183804dup",
        "CM000665.1:g.10183723_10183804dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "CTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTC",
          "end": 10158804,
          "referenceAllele": "",
          "start": 10158804
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158723_10158804dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "CTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTC",
          "end": 5486,
          "referenceAllele": "",
          "start": 5486
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5405_5486dup",
        "LRG_322:g.5405_5486dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTC",
          "end": 335,
          "referenceAllele": "",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.192_273dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:p.Asp92LeufsTer?",
        "hgvsWellDefined": "ENSP00000512434.1:p.[Asp92Leu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Val114delinsAlaAlaArgMetAlaGln;Met116_Thr117delinsArgArgArgAlaAlaAlaLeu;Val119delinsAsnAlaAlaAlaTrpHis;Gly120_Gln121insProProHisPro;Gln121_Phe122insLeuProSerProHisAspSerSerGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "CTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTC",
          "end": 273,
          "referenceAllele": "",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.192_273dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:p.Asp92LeufsTer?",
        "hgvsWellDefined": "ENSP00000512435.1:p.[Asp92Leu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Val114delinsAlaAlaArgMetAlaGln;Met116_Thr117delinsArgArgArgAlaAlaAlaLeu;Val119delinsAsnAlaAlaAlaTrpHis;Gly120_Gln121insProProHisPro;Gln121_Phe122insLeuProSerProHisAspSerSerGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "CTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTC",
          "end": 343,
          "referenceAllele": "",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.192_273dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Asp92LeufsTer?",
        "hgvsWellDefined": "ENSP00000512444.1:p.[Asp92Leu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Gly114_His115delinsArgArgAlaAlaAla;Leu116_Trp117insProAsnAlaAlaAla;Trp117_Leu118insHisGlyProProHisProGln;Phe119Pro;Asp121delinsSerProLeuAlaLeuGlnArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "CTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTC",
          "end": 343,
          "referenceAllele": "",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.192_273dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Asp92LeufsTer?",
        "hgvsWellDefined": "ENSP00000256474.3:p.[Asp92Leu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Gly114_His115delinsArgArgAlaAlaAla;Leu116_Trp117insProAsnAlaAlaAla;Trp117_Leu118insHisGlyProProHisProGln;Phe119Pro;Asp121delinsSerProLeuAlaLeuGlnArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.192_273dup"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.192_273dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Asp92LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Asp92LeufsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTC",
          "end": 1113,
          "referenceAllele": "",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.192_273dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Asp92LeufsTer?",
        "hgvsWellDefined": "ENSP00000256474.2:p.[Asp92Leu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Gly114_His115delinsArgArgAlaAlaAla;Leu116_Trp117insProAsnAlaAlaAla;Trp117_Leu118insHisGlyProProHisProGln;Phe119Pro;Asp121delinsSerProLeuAlaLeuGlnArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "CTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTC",
          "end": 333,
          "referenceAllele": "",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.192_273dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Asp92LeufsTer?",
        "hgvsWellDefined": "ENSP00000344757.2:p.[Asp92Leu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Val114_Thr116delinsArgArgAlaAlaAla;Lys118delinsProAsnAlaAlaAlaTrpHisGlyProProHisProGlnLeuProSerValTyrSer;Cys121delinsAlaMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "CTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTC",
          "end": 486,
          "referenceAllele": "",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.192_273dup",
        "LRG_322t1:c.192_273dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Asp92LeufsTer?",
        "hgvsWellDefined": "NP_000542.1:p.[Asp92Leu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Gly114_His115delinsArgArgAlaAlaAla;Leu116_Trp117insProAsnAlaAlaAla;Trp117_Leu118insHisGlyProProHisProGln;Phe119Pro;Asp121delinsSerProLeuAlaLeuGlnArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "CTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTC",
          "end": 486,
          "referenceAllele": "",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.192_273dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Asp92LeufsTer?",
        "hgvsWellDefined": "NP_937799.1:p.[Asp92Leu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Val114_Thr116delinsArgArgAlaAlaAla;Lys118delinsProAsnAlaAlaAlaTrpHisGlyProProHisProGlnLeuProSerValTyrSer;Cys121delinsAlaMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "CTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTC",
          "end": 358,
          "referenceAllele": "",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.192_273dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Asp92LeufsTer?",
        "hgvsWellDefined": "XP_011532380.1:p.[Asp92Leu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Val114delinsAlaAlaArgMetAlaGln;Met116_Thr117delinsArgArgArgAlaAlaAlaLeu;Val119delinsAsnAlaAlaAlaTrpHis;Gly120_Gln121insProProHisPro;Gln121_Phe122insLeuProSerProHisAspSerSerGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
          "allele": "CTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTC",
          "end": 486,
          "referenceAllele": "",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.192_273dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Asp92LeufsTer?",
        "hgvsWellDefined": "NP_001341652.1:p.[Asp92Leu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Val114delinsAlaAlaArgMetAlaGln;Met116_Thr117delinsArgArgArgAlaAlaAlaLeu;Val119delinsAsnAlaAlaAlaTrpHis;Gly120_Gln121insProProHisPro;Gln121_Phe122insLeuProSerProHisAspSerSerGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "coordinates": [
        {
          "allele": "CTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTC",
          "end": 343,
          "referenceAllele": "",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.192_273dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Asp92LeufsTer?",
        "hgvsWellDefined": "NP_000542.1:p.[Asp92Leu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Gly114_His115delinsArgArgAlaAlaAla;Leu116_Trp117insProAsnAlaAlaAla;Trp117_Leu118insHisGlyProProHisProGln;Phe119Pro;Asp121delinsSerProLeuAlaLeuGlnArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.192_273dup"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.192_273dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Asp92LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Asp92LeufsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTC",
          "end": 343,
          "referenceAllele": "",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.192_273dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Asp92LeufsTer?",
        "hgvsWellDefined": "NP_001341652.1:p.[Asp92Leu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Val114delinsAlaAlaArgMetAlaGln;Met116_Thr117delinsArgArgArgAlaAlaAlaLeu;Val119delinsAsnAlaAlaAlaTrpHis;Gly120_Gln121insProProHisPro;Gln121_Phe122insLeuProSerProHisAspSerSerGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "coordinates": [
        {
          "allele": "CTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTC",
          "end": 343,
          "referenceAllele": "",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.192_273dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Asp92LeufsTer?",
        "hgvsWellDefined": "NP_937799.1:p.[Asp92Leu;Pro95_Tyr98delinsLeuAlaArgAlaLeu;Thr100delinsGlyHis;Pro102_Gly106delinsLeuGlnSerGlnSerAla;Ile109_Tyr112delinsAlaAlaArgMetAlaGlnLeu;Val114_Thr116delinsArgArgAlaAlaAla;Lys118delinsProAsnAlaAlaAlaTrpHisGlyProProHisProGlnLeuProSerValTyrSer;Cys121delinsAlaMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}