{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394339570",
  "communityStandardTitle": [
    "NM_001009944.3(PKD1):c.10821+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=799874[alleleid]",
        "alleleId": 799874,
        "preferredName": "NM_001009944.3(PKD1):c.10821+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/811786",
        "RCV": [
          "RCV001002146"
        ],
        "variationId": 811786
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2143811C>T?assembly=hg19",
        "id": "chr16:g.2143811C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2093810C>T?assembly=hg38",
        "id": "chr16:g.2093810C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1596488823",
        "rs": 1596488823
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2093810-C-T?dataset=gnomad_r4",
        "id": "16-2093810-C-T",
        "variant": "16:2093810 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2093810,
          "referenceAllele": "C",
          "start": 2093809
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2093810C>T",
        "CM000678.2:g.2093810C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2143811,
          "referenceAllele": "C",
          "start": 2143810
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2143811C>T",
        "CM000678.1:g.2143811C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2083812,
          "referenceAllele": "C",
          "start": 2083811
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2083812C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 49411,
          "referenceAllele": "G",
          "start": 49410
        }
      ],
      "hgvs": [
        "NG_008617.1:g.49411G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001129"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11030,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 11030,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000262304.9:c.10821+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262304.4:n.10821+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742318",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262304.9:c.10821+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001009944.3:c.10821+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262304.4:n.10821+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001009944.3:n.10821+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11030,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 11030,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000262304.8:c.10821+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262304.4:n.10821+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11027,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 11027,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000423118.5:c.10818+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399501.1:n.10818+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 258,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 258,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000472659.1:n.258+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5383,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5383,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000487932.5:c.5383+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457132.1:n.5383+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 74,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 74,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000562425.1:c.74+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 63,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 63,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000568796.1:n.63+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11027,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 11027,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_000296.3:c.10818+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000287.3:n.10818+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11030,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 11030,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_001009944.2:c.10821+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001009944.2:n.10821+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7929,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7929,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_005255370.2:c.7776+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255427.1:n.7776+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10914,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10914,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522525.1:c.10899+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520827.1:n.10899+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10911,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10911,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522526.1:c.10896+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520828.1:n.10896+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10896,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10896,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522527.1:c.10881+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520829.1:n.10881+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089678"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10890,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10890,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522528.1:c.10875+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520830.1:n.10875+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10887,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10887,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522529.1:c.10872+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520831.1:n.10872+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089680"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11052,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 11052,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522530.1:c.10845+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520832.1:n.10845+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089681"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10842,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10842,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522531.1:c.10827+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520833.1:n.10827+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10980,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10980,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522532.1:c.10773+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520834.1:n.10773+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10707,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10707,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522533.1:c.10692+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520835.1:n.10692+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10656,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10656,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522534.1:c.10635+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520836.1:n.10635+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9070,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9070,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522535.1:c.8721+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520837.1:n.8721+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7987,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7987,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522537.1:c.7899+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520839.1:n.7899+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10914,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10914,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932867.1:n.10914+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10914,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10914,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932868.1:n.10914+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128745"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10914,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10914,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932869.1:n.10914+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10914,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10914,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932870.1:n.10914+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "endIntronDirection": "+",
          "endIntronOffset": 798,
          "referenceAllele": "C",
          "start": 213,
          "startIntronDirection": "+",
          "startIntronOffset": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056035",
      "geneNCBI_id": 105371049,
      "geneSymbol": "PKD1-AS1",
      "hgvs": [
        "XR_933000.1:n.213+798C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 303,
          "endIntronDirection": "+",
          "endIntronOffset": 798,
          "referenceAllele": "C",
          "start": 303,
          "startIntronDirection": "+",
          "startIntronOffset": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056035",
      "geneNCBI_id": 105371049,
      "geneSymbol": "PKD1-AS1",
      "hgvs": [
        "XR_933001.1:n.303+798C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 212,
          "endIntronDirection": "+",
          "endIntronOffset": 798,
          "referenceAllele": "C",
          "start": 212,
          "startIntronDirection": "+",
          "startIntronOffset": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056035",
      "geneNCBI_id": 105371049,
      "geneSymbol": "PKD1-AS1",
      "hgvs": [
        "XR_933002.1:n.212+798C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 212,
          "endIntronDirection": "+",
          "endIntronOffset": 798,
          "referenceAllele": "C",
          "start": 212,
          "startIntronDirection": "+",
          "startIntronOffset": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056035",
      "geneNCBI_id": 105371049,
      "geneSymbol": "PKD1-AS1",
      "hgvs": [
        "XR_933003.1:n.212+798C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128788"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 303,
          "endIntronDirection": "+",
          "endIntronOffset": 798,
          "referenceAllele": "C",
          "start": 303,
          "startIntronDirection": "+",
          "startIntronOffset": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056035",
      "geneNCBI_id": 105371049,
      "geneSymbol": "PKD1-AS1",
      "hgvs": [
        "NR_135175.1:n.303+798C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8617,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8617,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_005255370.3:c.7776+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255427.1:n.7776+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11056,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 11056,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522528.3:c.10875+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520830.1:n.10875+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11053,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 11053,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522529.2:c.10872+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520831.1:n.10872+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546643"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7988,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7988,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522537.2:c.7899+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520839.1:n.7899+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10956,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10956,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450298.1:c.10941+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306066.1:n.10941+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10884,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10884,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450299.1:c.10869+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306067.1:n.10869+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10942,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10942,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450300.1:c.10731+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306068.1:n.10731+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9173,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9173,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450301.1:c.8817+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306069.1:n.8817+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11027,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 11027,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_000296.4:c.10818+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000287.4:n.10818+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11030,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 11030,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_001009944.3:c.10821+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001009944.3:n.10821+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675359",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262304.9:c.10821+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001009944.3:c.10821+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262304.4:n.10821+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001009944.3:n.10821+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}