{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA645524633",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.157_163del (p.Glu53ArgfsTer12)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=53038",
        "active": true,
        "id": "COSM53038"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 10142010,
          "referenceAllele": "GAGATGG",
          "start": 10142003
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10142004_10142010del",
        "CM000665.2:g.10142004_10142010del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 10183694,
          "referenceAllele": "GAGATGG",
          "start": 10183687
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183688_10183694del",
        "CM000665.1:g.10183688_10183694del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 10158694,
          "referenceAllele": "GAGATGG",
          "start": 10158687
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158688_10158694del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5376,
          "referenceAllele": "GAGATGG",
          "start": 5369
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5370_5376del",
        "LRG_322:g.5370_5376del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 225,
          "referenceAllele": "GAGATGG",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.157_163del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:p.Glu53ArgfsTer12",
        "hgvsWellDefined": "ENSP00000512434.1:p.[Glu53_Gly57del;Arg60_Leu63delinsGlyGly;Ser65_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Val84del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 163,
          "referenceAllele": "GAGATGG",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.157_163del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:p.Glu53ArgfsTer12",
        "hgvsWellDefined": "ENSP00000512435.1:p.[Glu53_Gly57del;Arg60_Leu63delinsGlyGly;Ser65_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Val84del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 233,
          "referenceAllele": "GAGATGG",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.157_163del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Glu53ArgfsTer12",
        "hgvsWellDefined": "ENSP00000512444.1:p.[Glu53_Gly57del;Arg60_Leu63delinsGlyGly;Ser65_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Val84del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 233,
          "referenceAllele": "GAGATGG",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.157_163del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Glu53ArgfsTer12",
        "hgvsWellDefined": "ENSP00000256474.3:p.[Glu53_Gly57del;Arg60_Leu63delinsGlyGly;Ser65_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Val84del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.157_163del"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.157_163del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Glu53ArgfsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Glu53ArgfsTer12"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1003,
          "referenceAllele": "GAGATGG",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.157_163del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Glu53ArgfsTer12",
        "hgvsWellDefined": "ENSP00000256474.2:p.[Glu53_Gly57del;Arg60_Leu63delinsGlyGly;Ser65_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Val84del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 223,
          "referenceAllele": "GAGATGG",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.157_163del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Glu53ArgfsTer12",
        "hgvsWellDefined": "ENSP00000344757.2:p.[Glu53_Gly57del;Arg60_Leu63delinsGlyGly;Ser65_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Val84del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 376,
          "referenceAllele": "GAGATGG",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.157_163del",
        "LRG_322t1:c.157_163del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Glu53ArgfsTer12",
        "hgvsWellDefined": "NP_000542.1:p.[Glu53_Gly57del;Arg60_Leu63delinsGlyGly;Ser65_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Val84del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 376,
          "referenceAllele": "GAGATGG",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.157_163del"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Glu53ArgfsTer12",
        "hgvsWellDefined": "NP_937799.1:p.[Glu53_Gly57del;Arg60_Leu63delinsGlyGly;Ser65_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Val84del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 248,
          "referenceAllele": "GAGATGG",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.157_163del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Glu53ArgfsTer12",
        "hgvsWellDefined": "XP_011532380.1:p.[Glu53_Gly57del;Arg60_Leu63delinsGlyGly;Ser65_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Val84del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 376,
          "referenceAllele": "GAGATGG",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.157_163del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Glu53ArgfsTer12",
        "hgvsWellDefined": "NP_001341652.1:p.[Glu53_Gly57del;Arg60_Leu63delinsGlyGly;Ser65_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Val84del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 233,
          "referenceAllele": "GAGATGG",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.157_163del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Glu53ArgfsTer12",
        "hgvsWellDefined": "NP_000542.1:p.[Glu53_Gly57del;Arg60_Leu63delinsGlyGly;Ser65_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Val84del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.157_163del"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.157_163del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Glu53ArgfsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Glu53ArgfsTer12"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 233,
          "referenceAllele": "GAGATGG",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.157_163del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Glu53ArgfsTer12",
        "hgvsWellDefined": "NP_001341652.1:p.[Glu53_Gly57del;Arg60_Leu63delinsGlyGly;Ser65_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Val84del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 233,
          "referenceAllele": "GAGATGG",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.157_163del"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Glu53ArgfsTer12",
        "hgvsWellDefined": "NP_937799.1:p.[Glu53_Gly57del;Arg60_Leu63delinsGlyGly;Ser65_Glu70delinsGly;Ser72_Phe76delinsCys;Asn78Ala;Ser80_Val84del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}