{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA645524868",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.341-11T>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=36358",
        "active": true,
        "id": "COSM36358"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1471555[alleleid]",
        "alleleId": 1471555,
        "preferredName": "NM_000551.4(VHL):c.341-11T>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1457988",
        "RCV": [
          "RCV001956145"
        ],
        "variationId": 1457988
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2125128187",
        "rs": 2125128187
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 10146503,
          "referenceAllele": "T",
          "start": 10146502
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10146503T>A",
        "CM000665.2:g.10146503T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 10188187,
          "referenceAllele": "T",
          "start": 10188186
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10188187T>A",
        "CM000665.1:g.10188187T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 10163187,
          "referenceAllele": "T",
          "start": 10163186
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10163187T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9869,
          "referenceAllele": "T",
          "start": 9868
        }
      ],
      "hgvs": [
        "NG_008212.3:g.9869T>A",
        "LRG_322:g.9869T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 661,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 661,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.*18-11T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:n.*18-11T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 599,
          "endIntronDirection": "-",
          "endIntronOffset": 3283,
          "referenceAllele": "T",
          "start": 599,
          "startIntronDirection": "-",
          "startIntronOffset": 3284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.600-3284T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:n.600-3284T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 410,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 410,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.341-11T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:n.341-11T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 410,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 410,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.341-11T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:n.341-11T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.341-11T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.341-11T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:n.341-11T>A"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:n.341-11T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1180,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 1180,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.341-11T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:n.341-11T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "endIntronDirection": "-",
          "endIntronOffset": 3283,
          "referenceAllele": "T",
          "start": 400,
          "startIntronDirection": "-",
          "startIntronOffset": 3284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.341-3284T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:n.341-3284T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 476,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 476,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000477538.1:n.477-11T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318325"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 553,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 553,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.341-11T>A",
        "LRG_322t1:c.341-11T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:n.341-11T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 553,
          "endIntronDirection": "-",
          "endIntronOffset": 3283,
          "referenceAllele": "T",
          "start": 553,
          "startIntronDirection": "-",
          "startIntronOffset": 3284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.341-3284T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:n.341-3284T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 684,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 684,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.*18-11T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:n.*18-11T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 812,
          "endIntronDirection": "-",
          "endIntronOffset": 3283,
          "referenceAllele": "T",
          "start": 812,
          "startIntronDirection": "-",
          "startIntronOffset": 3284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.*18-3284T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*18-3284T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 410,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 410,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.341-11T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:n.341-11T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.341-11T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.341-11T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:n.341-11T>A"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:n.341-11T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 669,
          "endIntronDirection": "-",
          "endIntronOffset": 3283,
          "referenceAllele": "T",
          "start": 669,
          "startIntronDirection": "-",
          "startIntronOffset": 3284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.*18-3284T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*18-3284T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 410,
          "endIntronDirection": "-",
          "endIntronOffset": 3283,
          "referenceAllele": "T",
          "start": 410,
          "startIntronDirection": "-",
          "startIntronOffset": 3284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.341-3284T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:n.341-3284T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}