{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1345065141",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC (p.Asp28=)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "end": 10141975,
          "referenceAllele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "start": 10141929
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10141930_10141975delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
        "CM000665.2:g.10141930_10141975delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "end": 10183659,
          "referenceAllele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "start": 10183613
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183614_10183659delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
        "CM000665.1:g.10183614_10183659delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "end": 10158659,
          "referenceAllele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "start": 10158613
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158614_10158659delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "end": 5341,
          "referenceAllele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "start": 5295
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5296_5341delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
        "LRG_322:g.5296_5341delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "end": 190,
          "referenceAllele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "end": 128,
          "referenceAllele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "end": 198,
          "referenceAllele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "end": 198,
          "referenceAllele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Asp28="
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Asp28="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "end": 968,
          "referenceAllele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "end": 188,
          "referenceAllele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069012188",
      "coordinates": [
        {
          "allele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "end": 341,
          "referenceAllele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
        "LRG_322t1:c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "end": 341,
          "referenceAllele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "end": 213,
          "referenceAllele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "end": 341,
          "referenceAllele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069012188",
      "coordinates": [
        {
          "allele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "end": 198,
          "referenceAllele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Asp28="
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Asp28="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "end": 198,
          "referenceAllele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "end": 198,
          "referenceAllele": "ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Asp28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}