{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2499216351",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.244_259dup (p.Val87AlafsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1059561[alleleid]",
        "alleleId": 1059561,
        "preferredName": "NM_000551.4(VHL):c.244_259dup (p.Val87fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1071196",
        "RCV": [
          "RCV001383594"
        ],
        "variationId": 1071196
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2125125105",
        "rs": 2125125105
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "CGCGTCGTGCTGCCCG",
          "end": 10142106,
          "referenceAllele": "",
          "start": 10142106
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10142091_10142106dup",
        "CM000665.2:g.10142091_10142106dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "CGCGTCGTGCTGCCCG",
          "end": 10183790,
          "referenceAllele": "",
          "start": 10183790
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183775_10183790dup",
        "CM000665.1:g.10183775_10183790dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "CGCGTCGTGCTGCCCG",
          "end": 10158790,
          "referenceAllele": "",
          "start": 10158790
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158775_10158790dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "CGCGTCGTGCTGCCCG",
          "end": 5472,
          "referenceAllele": "",
          "start": 5472
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5457_5472dup",
        "LRG_322:g.5457_5472dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CGCGTCGTGCTGCCCG",
          "end": 321,
          "referenceAllele": "",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.244_259dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:p.Val87AlafsTer?",
        "hgvsWellDefined": "ENSP00000512434.1:p.[Val87_Thr100delinsAlaArgArgAlaAlaArgMetAlaGlnLeuArgArgArgAlaAlaAla;Pro103_Val114delinsAsnAlaAlaAlaTrpHisGlyProProHisProGln;Met116delinsProSerProHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "CGCGTCGTGCTGCCCG",
          "end": 259,
          "referenceAllele": "",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.244_259dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:p.Val87AlafsTer?",
        "hgvsWellDefined": "ENSP00000512435.1:p.[Val87_Thr100delinsAlaArgArgAlaAlaArgMetAlaGlnLeuArgArgArgAlaAlaAla;Pro103_Val114delinsAsnAlaAlaAlaTrpHisGlyProProHisProGln;Met116delinsProSerProHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "CGCGTCGTGCTGCCCG",
          "end": 329,
          "referenceAllele": "",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.244_259dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Val87AlafsTer?",
        "hgvsWellDefined": "ENSP00000512444.1:p.[Val87_Thr100delinsAlaArgArgAlaAlaArgMetAlaGlnLeuArgArgArgAlaAlaAla;Pro103_Ile109delinsAsnAlaAlaAlaTrpHisGlyProPro;Ser111_Leu116delinsProGlnLeuProArgSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "CGCGTCGTGCTGCCCG",
          "end": 329,
          "referenceAllele": "",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.244_259dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Val87AlafsTer?",
        "hgvsWellDefined": "ENSP00000256474.3:p.[Val87_Thr100delinsAlaArgArgAlaAlaArgMetAlaGlnLeuArgArgArgAlaAlaAla;Pro103_Ile109delinsAsnAlaAlaAlaTrpHisGlyProPro;Ser111_Leu116delinsProGlnLeuProArgSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.244_259dup"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.244_259dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Val87AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Val87AlafsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CGCGTCGTGCTGCCCG",
          "end": 1099,
          "referenceAllele": "",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.244_259dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Val87AlafsTer?",
        "hgvsWellDefined": "ENSP00000256474.2:p.[Val87_Thr100delinsAlaArgArgAlaAlaArgMetAlaGlnLeuArgArgArgAlaAlaAla;Pro103_Ile109delinsAsnAlaAlaAlaTrpHisGlyProPro;Ser111_Leu116delinsProGlnLeuProArgSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "CGCGTCGTGCTGCCCG",
          "end": 319,
          "referenceAllele": "",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.244_259dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Val87AlafsTer?",
        "hgvsWellDefined": "ENSP00000344757.2:p.[Val87_Thr100delinsAlaArgArgAlaAlaArgMetAlaGlnLeuArgArgArgAlaAlaAla;Pro103_Ile109delinsAsnAlaAlaAlaTrpHisGlyProPro;Ser111_Arg113delinsProGlnLeuProSer;Thr116del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "CGCGTCGTGCTGCCCG",
          "end": 472,
          "referenceAllele": "",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.244_259dup",
        "LRG_322t1:c.244_259dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Val87AlafsTer?",
        "hgvsWellDefined": "NP_000542.1:p.[Val87_Thr100delinsAlaArgArgAlaAlaArgMetAlaGlnLeuArgArgArgAlaAlaAla;Pro103_Ile109delinsAsnAlaAlaAlaTrpHisGlyProPro;Ser111_Leu116delinsProGlnLeuProArgSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "CGCGTCGTGCTGCCCG",
          "end": 472,
          "referenceAllele": "",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.244_259dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Val87AlafsTer?",
        "hgvsWellDefined": "NP_937799.1:p.[Val87_Thr100delinsAlaArgArgAlaAlaArgMetAlaGlnLeuArgArgArgAlaAlaAla;Pro103_Ile109delinsAsnAlaAlaAlaTrpHisGlyProPro;Ser111_Arg113delinsProGlnLeuProSer;Thr116del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "CGCGTCGTGCTGCCCG",
          "end": 344,
          "referenceAllele": "",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.244_259dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Val87AlafsTer?",
        "hgvsWellDefined": "XP_011532380.1:p.[Val87_Thr100delinsAlaArgArgAlaAlaArgMetAlaGlnLeuArgArgArgAlaAlaAla;Pro103_Val114delinsAsnAlaAlaAlaTrpHisGlyProProHisProGln;Met116delinsProSerProHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
          "allele": "CGCGTCGTGCTGCCCG",
          "end": 472,
          "referenceAllele": "",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.244_259dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Val87AlafsTer?",
        "hgvsWellDefined": "NP_001341652.1:p.[Val87_Thr100delinsAlaArgArgAlaAlaArgMetAlaGlnLeuArgArgArgAlaAlaAla;Pro103_Val114delinsAsnAlaAlaAlaTrpHisGlyProProHisProGln;Met116delinsProSerProHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "coordinates": [
        {
          "allele": "CGCGTCGTGCTGCCCG",
          "end": 329,
          "referenceAllele": "",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.244_259dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Val87AlafsTer?",
        "hgvsWellDefined": "NP_000542.1:p.[Val87_Thr100delinsAlaArgArgAlaAlaArgMetAlaGlnLeuArgArgArgAlaAlaAla;Pro103_Ile109delinsAsnAlaAlaAlaTrpHisGlyProPro;Ser111_Leu116delinsProGlnLeuProArgSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.244_259dup"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.244_259dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Val87AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Val87AlafsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CGCGTCGTGCTGCCCG",
          "end": 329,
          "referenceAllele": "",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.244_259dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Val87AlafsTer?",
        "hgvsWellDefined": "NP_001341652.1:p.[Val87_Thr100delinsAlaArgArgAlaAlaArgMetAlaGlnLeuArgArgArgAlaAlaAla;Pro103_Val114delinsAsnAlaAlaAlaTrpHisGlyProProHisProGln;Met116delinsProSerProHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "coordinates": [
        {
          "allele": "CGCGTCGTGCTGCCCG",
          "end": 329,
          "referenceAllele": "",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.244_259dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Val87AlafsTer?",
        "hgvsWellDefined": "NP_937799.1:p.[Val87_Thr100delinsAlaArgArgAlaAlaArgMetAlaGlnLeuArgArgArgAlaAlaAla;Pro103_Ile109delinsAsnAlaAlaAlaTrpHisGlyProPro;Ser111_Arg113delinsProGlnLeuProSer;Thr116del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}