{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA891841802",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.188_195del (p.Leu63ArgfsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 10142042,
          "referenceAllele": "TGCGCTCG",
          "start": 10142034
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10142035_10142042del",
        "CM000665.2:g.10142035_10142042del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 10183726,
          "referenceAllele": "TGCGCTCG",
          "start": 10183718
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183719_10183726del",
        "CM000665.1:g.10183719_10183726del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 10158726,
          "referenceAllele": "TGCGCTCG",
          "start": 10158718
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158719_10158726del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5408,
          "referenceAllele": "TGCGCTCG",
          "start": 5400
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5401_5408del",
        "LRG_322:g.5401_5408del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 257,
          "referenceAllele": "TGCGCTCG",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.188_195del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:p.Leu63ArgfsTer?",
        "hgvsWellDefined": "ENSP00000512434.1:p.[Leu63del;Ser65_Glu70delinsGluLeuAlaArgAlaLeu;Ser72_Pro81delinsGlyHisLeuLeuGlnSerGlnSerAlaArg;Val83_Trp88delinsAlaAlaArgMetAlaGln;Asn90_Pro95delinsArgArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 195,
          "referenceAllele": "TGCGCTCG",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.188_195del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:p.Leu63ArgfsTer?",
        "hgvsWellDefined": "ENSP00000512435.1:p.[Leu63del;Ser65_Glu70delinsGluLeuAlaArgAlaLeu;Ser72_Pro81delinsGlyHisLeuLeuGlnSerGlnSerAlaArg;Val83_Trp88delinsAlaAlaArgMetAlaGln;Asn90_Pro95delinsArgArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 265,
          "referenceAllele": "TGCGCTCG",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.188_195del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Leu63ArgfsTer?",
        "hgvsWellDefined": "ENSP00000512444.1:p.[Leu63del;Ser65_Glu70delinsGluLeuAlaArgAlaLeu;Ser72_Pro81delinsGlyHisLeuLeuGlnSerGlnSerAlaArg;Val83_Trp88delinsAlaAlaArgMetAlaGln;Asn90_Pro95delinsArgArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 265,
          "referenceAllele": "TGCGCTCG",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.188_195del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Leu63ArgfsTer?",
        "hgvsWellDefined": "ENSP00000256474.3:p.[Leu63del;Ser65_Glu70delinsGluLeuAlaArgAlaLeu;Ser72_Pro81delinsGlyHisLeuLeuGlnSerGlnSerAlaArg;Val83_Trp88delinsAlaAlaArgMetAlaGln;Asn90_Pro95delinsArgArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.188_195del"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.188_195del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Leu63ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Leu63ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1035,
          "referenceAllele": "TGCGCTCG",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.188_195del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Leu63ArgfsTer?",
        "hgvsWellDefined": "ENSP00000256474.2:p.[Leu63del;Ser65_Glu70delinsGluLeuAlaArgAlaLeu;Ser72_Pro81delinsGlyHisLeuLeuGlnSerGlnSerAlaArg;Val83_Trp88delinsAlaAlaArgMetAlaGln;Asn90_Pro95delinsArgArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 255,
          "referenceAllele": "TGCGCTCG",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.188_195del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Leu63ArgfsTer?",
        "hgvsWellDefined": "ENSP00000344757.2:p.[Leu63del;Ser65_Glu70delinsGluLeuAlaArgAlaLeu;Ser72_Pro81delinsGlyHisLeuLeuGlnSerGlnSerAlaArg;Val83_Trp88delinsAlaAlaArgMetAlaGln;Asn90_Pro95delinsArgArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 408,
          "referenceAllele": "TGCGCTCG",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.188_195del",
        "LRG_322t1:c.188_195del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Leu63ArgfsTer?",
        "hgvsWellDefined": "NP_000542.1:p.[Leu63del;Ser65_Glu70delinsGluLeuAlaArgAlaLeu;Ser72_Pro81delinsGlyHisLeuLeuGlnSerGlnSerAlaArg;Val83_Trp88delinsAlaAlaArgMetAlaGln;Asn90_Pro95delinsArgArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 408,
          "referenceAllele": "TGCGCTCG",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.188_195del"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Leu63ArgfsTer?",
        "hgvsWellDefined": "NP_937799.1:p.[Leu63del;Ser65_Glu70delinsGluLeuAlaArgAlaLeu;Ser72_Pro81delinsGlyHisLeuLeuGlnSerGlnSerAlaArg;Val83_Trp88delinsAlaAlaArgMetAlaGln;Asn90_Pro95delinsArgArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 280,
          "referenceAllele": "TGCGCTCG",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.188_195del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Leu63ArgfsTer?",
        "hgvsWellDefined": "XP_011532380.1:p.[Leu63del;Ser65_Glu70delinsGluLeuAlaArgAlaLeu;Ser72_Pro81delinsGlyHisLeuLeuGlnSerGlnSerAlaArg;Val83_Trp88delinsAlaAlaArgMetAlaGln;Asn90_Pro95delinsArgArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 408,
          "referenceAllele": "TGCGCTCG",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.188_195del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Leu63ArgfsTer?",
        "hgvsWellDefined": "NP_001341652.1:p.[Leu63del;Ser65_Glu70delinsGluLeuAlaArgAlaLeu;Ser72_Pro81delinsGlyHisLeuLeuGlnSerGlnSerAlaArg;Val83_Trp88delinsAlaAlaArgMetAlaGln;Asn90_Pro95delinsArgArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 265,
          "referenceAllele": "TGCGCTCG",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.188_195del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Leu63ArgfsTer?",
        "hgvsWellDefined": "NP_000542.1:p.[Leu63del;Ser65_Glu70delinsGluLeuAlaArgAlaLeu;Ser72_Pro81delinsGlyHisLeuLeuGlnSerGlnSerAlaArg;Val83_Trp88delinsAlaAlaArgMetAlaGln;Asn90_Pro95delinsArgArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.188_195del"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.188_195del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Leu63ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Leu63ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 265,
          "referenceAllele": "TGCGCTCG",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.188_195del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Leu63ArgfsTer?",
        "hgvsWellDefined": "NP_001341652.1:p.[Leu63del;Ser65_Glu70delinsGluLeuAlaArgAlaLeu;Ser72_Pro81delinsGlyHisLeuLeuGlnSerGlnSerAlaArg;Val83_Trp88delinsAlaAlaArgMetAlaGln;Asn90_Pro95delinsArgArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 265,
          "referenceAllele": "TGCGCTCG",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.188_195del"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Leu63ArgfsTer?",
        "hgvsWellDefined": "NP_937799.1:p.[Leu63del;Ser65_Glu70delinsGluLeuAlaArgAlaLeu;Ser72_Pro81delinsGlyHisLeuLeuGlnSerGlnSerAlaArg;Val83_Trp88delinsAlaAlaArgMetAlaGln;Asn90_Pro95delinsArgArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}