{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1805815720",
  "communityStandardTitle": [
    "NM_152564.5(VPS13B):c.6319C= (p.Gln2107=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516489",
        "rs": 1057516489
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 99699797,
          "referenceAllele": "C",
          "start": 99699796
        }
      ],
      "hgvs": [
        "NC_000008.11:g.99699797C=",
        "CM000670.2:g.99699797C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 100712025,
          "referenceAllele": "C",
          "start": 100712024
        }
      ],
      "hgvs": [
        "NC_000008.10:g.100712025C=",
        "CM000670.1:g.100712025C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 100781201,
          "referenceAllele": "C",
          "start": 100781200
        }
      ],
      "hgvs": [
        "NC_000008.9:g.100781201C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 691532,
          "referenceAllele": "C",
          "start": 691531
        }
      ],
      "hgvs": [
        "NG_007098.2:g.691532C=",
        "LRG_351:g.691532C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000479"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6464,
          "referenceAllele": "C",
          "start": 6463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000682153.1:c.6394C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507923.1:p.Gln2132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827150"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6464,
          "referenceAllele": "C",
          "start": 6463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000682358.1:n.6464C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6360,
          "referenceAllele": "C",
          "start": 6359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000683334.1:c.*2076C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507369.1:n.*2076C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828315"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6422,
          "referenceAllele": "C",
          "start": 6421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000357162.7:c.6319C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349685.2:p.Gln2107="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748899",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357162.7:c.6319C="
          },
          "RefSeq": {
            "hgvs": "NM_152564.5:c.6319C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349685.2:p.Gln2107="
          },
          "RefSeq": {
            "hgvs": "NP_689777.3:p.Gln2107="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6497,
          "referenceAllele": "C",
          "start": 6496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000358544.7:c.6394C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351346.2:p.Gln2132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749089",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358544.7:c.6394C="
          },
          "RefSeq": {
            "hgvs": "NM_017890.5:c.6394C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351346.2:p.Gln2132="
          },
          "RefSeq": {
            "hgvs": "NP_060360.3:p.Gln2132="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6430,
          "referenceAllele": "C",
          "start": 6429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000357162.6:c.6319C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349685.2:p.Gln2107="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6505,
          "referenceAllele": "C",
          "start": 6504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000358544.6:c.6394C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351346.2:p.Gln2132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075061987",
      "coordinates": [
        {
          "allele": "C",
          "end": 6505,
          "referenceAllele": "C",
          "start": 6504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "NM_017890.4:c.6394C=",
        "LRG_351t1:c.6394C="
      ],
      "proteinEffect": {
        "hgvs": "NP_060360.3:p.Gln2132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035281"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6430,
          "referenceAllele": "C",
          "start": 6429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "NM_152564.4:c.6319C=",
        "LRG_351t2:c.6319C="
      ],
      "proteinEffect": {
        "hgvs": "NP_689777.3:p.Gln2107="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041979"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6811,
          "referenceAllele": "C",
          "start": 6810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_005250800.2:c.6394C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250857.1:p.Gln2132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059322"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6624,
          "referenceAllele": "C",
          "start": 6623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_005250801.3:c.6394C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250858.1:p.Gln2132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6494,
          "referenceAllele": "C",
          "start": 6493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516848.1:c.6391C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515150.1:p.Gln2131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6419,
          "referenceAllele": "C",
          "start": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516849.1:c.6316C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515151.1:p.Gln2106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6126,
          "referenceAllele": "C",
          "start": 6125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516850.1:c.6016C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515152.1:p.Gln2006="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3410,
          "referenceAllele": "C",
          "start": 3409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516851.1:c.3280C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515153.1:p.Gln1094="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3386,
          "referenceAllele": "C",
          "start": 3385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516852.1:c.3280C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515154.1:p.Gln1094="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6497,
          "referenceAllele": "C",
          "start": 6496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516853.1:c.6394C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515155.1:p.Gln2132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084052"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2294,
          "referenceAllele": "C",
          "start": 2293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516854.1:c.2173C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515156.1:p.Gln725="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084053"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6811,
          "referenceAllele": "C",
          "start": 6810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_005250800.3:c.6394C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250857.1:p.Gln2132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533506"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6610,
          "referenceAllele": "C",
          "start": 6609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_005250801.5:c.6394C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250858.1:p.Gln2132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533507"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6494,
          "referenceAllele": "C",
          "start": 6493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516848.2:c.6391C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515150.1:p.Gln2131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544313"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6419,
          "referenceAllele": "C",
          "start": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516849.2:c.6316C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515151.1:p.Gln2106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6137,
          "referenceAllele": "C",
          "start": 6136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516850.2:c.6016C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515152.1:p.Gln2006="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544315"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3397,
          "referenceAllele": "C",
          "start": 3396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516851.2:c.3280C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515153.1:p.Gln1094="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3435,
          "referenceAllele": "C",
          "start": 3434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516852.2:c.3280C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515154.1:p.Gln1094="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6497,
          "referenceAllele": "C",
          "start": 6496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516853.2:c.6394C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515155.1:p.Gln2132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2593,
          "referenceAllele": "C",
          "start": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516854.2:c.2173C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515156.1:p.Gln725="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6302,
          "referenceAllele": "C",
          "start": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_017013109.1:c.6199C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868598.1:p.Gln2067="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566488"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3667,
          "referenceAllele": "C",
          "start": 3666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_017013111.1:c.3280C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868600.1:p.Gln1094="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566489"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2809,
          "referenceAllele": "C",
          "start": 2808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_017013112.1:c.1951C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868601.1:p.Gln651="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6576,
          "referenceAllele": "C",
          "start": 6575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_024447074.1:c.5179C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302842.1:p.Gln1727="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075061987",
      "coordinates": [
        {
          "allele": "C",
          "end": 6497,
          "referenceAllele": "C",
          "start": 6496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "NM_017890.5:c.6394C="
      ],
      "proteinEffect": {
        "hgvs": "NP_060360.3:p.Gln2132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728272",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358544.7:c.6394C="
          },
          "RefSeq": {
            "hgvs": "NM_017890.5:c.6394C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351346.2:p.Gln2132="
          },
          "RefSeq": {
            "hgvs": "NP_060360.3:p.Gln2132="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6422,
          "referenceAllele": "C",
          "start": 6421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "NM_152564.5:c.6319C="
      ],
      "proteinEffect": {
        "hgvs": "NP_689777.3:p.Gln2107="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729400",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357162.7:c.6319C="
          },
          "RefSeq": {
            "hgvs": "NM_152564.5:c.6319C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349685.2:p.Gln2107="
          },
          "RefSeq": {
            "hgvs": "NP_689777.3:p.Gln2107="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}