{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA658795185",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.592_593del (p.Leu198GlyfsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 10149916,
          "referenceAllele": "CT",
          "start": 10149914
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10149915_10149916del",
        "CM000665.2:g.10149915_10149916del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 10191600,
          "referenceAllele": "CT",
          "start": 10191598
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10191599_10191600del",
        "CM000665.1:g.10191599_10191600del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 10166600,
          "referenceAllele": "CT",
          "start": 10166598
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10166599_10166600del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13282,
          "referenceAllele": "CT",
          "start": 13280
        }
      ],
      "hgvs": [
        "NG_008212.3:g.13281_13282del",
        "LRG_322:g.13281_13282del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 914,
          "referenceAllele": "CT",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.*269_*270del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:n.*269_*270del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 729,
          "referenceAllele": "CT",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.728_729del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:n.728_729del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 774,
          "referenceAllele": "CT",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.703_704del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Leu235GlyfsTer?",
        "hgvsWellDefined": "ENSP00000512444.1:p.[Leu235_Leu238delinsGlyAlaAlaAsp;Gln240_Glu241delinsGlyAlaHisCysThrSerThrAspGly;Arg242_Ile243insLeuLys;Ala244_Asp250delinsSerValGluThrTyrThrValSerSerGlnLeuLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 663,
          "referenceAllele": "CT",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.592_593del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Leu198GlyfsTer?",
        "hgvsWellDefined": "ENSP00000256474.3:p.[Leu198_Leu201delinsGlyAlaAlaAsp;Gln203_Glu204delinsGlyAlaHisCysThrSerThrAspGly;Arg205_Ile206insLeuLys;Ala207_Asp213delinsSerValGluThrTyrThrValSerSerGlnLeuLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.592_593del"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.592_593del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Leu198GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Leu198GlyfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1433,
          "referenceAllele": "CT",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.592_593del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Leu198GlyfsTer?",
        "hgvsWellDefined": "ENSP00000256474.2:p.[Leu198_Leu201delinsGlyAlaAlaAsp;Gln203_Glu204delinsGlyAlaHisCysThrSerThrAspGly;Arg205_Ile206insLeuLys;Ala207_Asp213delinsSerValGluThrTyrThrValSerSerGlnLeuLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 530,
          "referenceAllele": "CT",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.469_470del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Leu157GlyfsTer?",
        "hgvsWellDefined": "ENSP00000344757.2:p.[Leu157_Leu160delinsGlyAlaAlaAsp;Gln162_Glu163delinsGlyAlaHisCysThrSerThrAspGly;Arg164_Ile165insLeuLys;Ala166_Asp172delinsSerValGluThrTyrThrValSerSerGlnLeuLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 729,
          "referenceAllele": "CT",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000477538.1:n.728_729del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318325"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 806,
          "referenceAllele": "CT",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.592_593del",
        "LRG_322t1:c.592_593del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Leu198GlyfsTer?",
        "hgvsWellDefined": "NP_000542.1:p.[Leu198_Leu201delinsGlyAlaAlaAsp;Gln203_Glu204delinsGlyAlaHisCysThrSerThrAspGly;Arg205_Ile206insLeuLys;Ala207_Asp213delinsSerValGluThrTyrThrValSerSerGlnLeuLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 683,
          "referenceAllele": "CT",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.469_470del"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Leu157GlyfsTer?",
        "hgvsWellDefined": "NP_937799.1:p.[Leu157_Leu160delinsGlyAlaAlaAsp;Gln162_Glu163delinsGlyAlaHisCysThrSerThrAspGly;Arg164_Ile165insLeuLys;Ala166_Asp172delinsSerValGluThrTyrThrValSerSerGlnLeuLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 942,
          "referenceAllele": "CT",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.*146_*147del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*146_*147del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 663,
          "referenceAllele": "CT",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.592_593del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Leu198GlyfsTer?",
        "hgvsWellDefined": "NP_000542.1:p.[Leu198_Leu201delinsGlyAlaAlaAsp;Gln203_Glu204delinsGlyAlaHisCysThrSerThrAspGly;Arg205_Ile206insLeuLys;Ala207_Asp213delinsSerValGluThrTyrThrValSerSerGlnLeuLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.592_593del"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.592_593del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Leu198GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Leu198GlyfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 799,
          "referenceAllele": "CT",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.*146_*147del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*146_*147del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 540,
          "referenceAllele": "CT",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.469_470del"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Leu157GlyfsTer?",
        "hgvsWellDefined": "NP_937799.1:p.[Leu157_Leu160delinsGlyAlaAlaAsp;Gln162_Glu163delinsGlyAlaHisCysThrSerThrAspGly;Arg164_Ile165insLeuLys;Ala166_Asp172delinsSerValGluThrTyrThrValSerSerGlnLeuLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}