{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA432536374",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.176del (p.Pro59ArgfsTer8)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=18367",
        "active": true,
        "id": "COSM18367"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10183707del?assembly=hg19",
        "id": "chr3:g.10183707del"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 10142023,
          "referenceAllele": "C",
          "start": 10142022
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10142023del",
        "CM000665.2:g.10142023del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 10183707,
          "referenceAllele": "C",
          "start": 10183706
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183707del",
        "CM000665.1:g.10183707del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 10158707,
          "referenceAllele": "C",
          "start": 10158706
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158707del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5389,
          "referenceAllele": "C",
          "start": 5388
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5389del",
        "LRG_322:g.5389del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 238,
          "referenceAllele": "C",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.176del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:p.Pro59ArgfsTer8",
        "hgvsWellDefined": "ENSP00000512434.1:p.[Pro59del;Pro61_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Trp88del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 176,
          "referenceAllele": "C",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.176del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:p.Pro59ArgfsTer8",
        "hgvsWellDefined": "ENSP00000512435.1:p.[Pro59del;Pro61_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Trp88del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 246,
          "referenceAllele": "C",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.176del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Pro59ArgfsTer8",
        "hgvsWellDefined": "ENSP00000512444.1:p.[Pro59del;Pro61_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Trp88del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 246,
          "referenceAllele": "C",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.176del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Pro59ArgfsTer8",
        "hgvsWellDefined": "ENSP00000256474.3:p.[Pro59del;Pro61_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Trp88del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.176del"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.176del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Pro59ArgfsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Pro59ArgfsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.176del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Pro59ArgfsTer8",
        "hgvsWellDefined": "ENSP00000256474.2:p.[Pro59del;Pro61_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Trp88del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 236,
          "referenceAllele": "C",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.176del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Pro59ArgfsTer8",
        "hgvsWellDefined": "ENSP00000344757.2:p.[Pro59del;Pro61_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Trp88del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.176del",
        "LRG_322t1:c.176del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Pro59ArgfsTer8",
        "hgvsWellDefined": "NP_000542.1:p.[Pro59del;Pro61_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Trp88del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.176del"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Pro59ArgfsTer8",
        "hgvsWellDefined": "NP_937799.1:p.[Pro59del;Pro61_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Trp88del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 261,
          "referenceAllele": "C",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.176del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Pro59ArgfsTer8",
        "hgvsWellDefined": "XP_011532380.1:p.[Pro59del;Pro61_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Trp88del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.176del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Pro59ArgfsTer8",
        "hgvsWellDefined": "NP_001341652.1:p.[Pro59del;Pro61_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Trp88del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 246,
          "referenceAllele": "C",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.176del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Pro59ArgfsTer8",
        "hgvsWellDefined": "NP_000542.1:p.[Pro59del;Pro61_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Trp88del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.176del"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.176del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Pro59ArgfsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Pro59ArgfsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 246,
          "referenceAllele": "C",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.176del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Pro59ArgfsTer8",
        "hgvsWellDefined": "NP_001341652.1:p.[Pro59del;Pro61_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Trp88del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 246,
          "referenceAllele": "C",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.176del"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Pro59ArgfsTer8",
        "hgvsWellDefined": "NP_937799.1:p.[Pro59del;Pro61_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Trp88del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}