{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA275229",
  "communityStandardTitle": [
    "NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960LysfsTer9)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194151[alleleid]",
        "alleleId": 194151,
        "preferredName": "NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/196990",
        "RCV": [
          "RCV000177891",
          "RCV000780604",
          "RCV002503686"
        ],
        "variationId": 196990
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-51824695-TTG-T",
        "id": "6-51824695-TTG-T",
        "variant": "6:51824695 TTG / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.51824696_51824697del?assembly=hg19",
        "id": "chr6:g.51824696_51824697del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.51959898_51959899del?assembly=hg38",
        "id": "chr6:g.51959898_51959899del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771180444",
        "rs": 771180444
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-51824695-TTG-T?dataset=gnomad_r2_1",
        "id": "6-51824695-TTG-T",
        "variant": "6:51824695 TTG / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-51959897-TTG-T?dataset=gnomad_r3",
        "id": "6-51959897-TTG-T",
        "variant": "6:51959897 TTG / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-51959897-TTG-T?dataset=gnomad_r4",
        "id": "6-51959897-TTG-T",
        "variant": "6:51959897 TTG / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 51959902,
          "referenceAllele": "GT",
          "start": 51959900
        }
      ],
      "hgvs": [
        "NC_000006.12:g.51959901_51959902del",
        "CM000668.2:g.51959901_51959902del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 51824700,
          "referenceAllele": "GT",
          "start": 51824698
        }
      ],
      "hgvs": [
        "NC_000006.11:g.51824699_51824700del",
        "CM000668.1:g.51824699_51824700del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 51932659,
          "referenceAllele": "GT",
          "start": 51932657
        }
      ],
      "hgvs": [
        "NC_000006.10:g.51932658_51932659del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 132728,
          "referenceAllele": "AC",
          "start": 132726
        }
      ],
      "hgvs": [
        "NG_008753.1:g.132727_132728del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001200"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6144,
          "referenceAllele": "AC",
          "start": 6142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "ENST00000371117.8:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360158.3:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750727",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371117.8:c.5879_5880del"
          },
          "RefSeq": {
            "hgvs": "NM_138694.4:c.5879_5880del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360158.3:p.Thr1960LysfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_619639.3:p.Thr1960LysfsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6141,
          "referenceAllele": "AC",
          "start": 6139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "ENST00000340994.4:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341097.4:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261231"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6156,
          "referenceAllele": "AC",
          "start": 6154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "ENST00000371117.7:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360158.3:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268422"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6156,
          "referenceAllele": "AC",
          "start": 6154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_138694.3:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "NP_619639.3:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040823"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6156,
          "referenceAllele": "AC",
          "start": 6154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_170724.2:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "NP_733842.2:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042573"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5980,
          "referenceAllele": "AC",
          "start": 5978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514679.1:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512981.1:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081904"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5992,
          "referenceAllele": "AC",
          "start": 5990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514680.1:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512982.1:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081905"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6131,
          "referenceAllele": "AC",
          "start": 6129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514681.1:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512983.1:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081906"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6131,
          "referenceAllele": "AC",
          "start": 6129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514682.1:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512984.1:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081907"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5489,
          "referenceAllele": "AC",
          "start": 5487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514683.1:c.5237_5238del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512985.1:p.Thr1746LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081908"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5253,
          "referenceAllele": "AC",
          "start": 5251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514684.1:c.5168_5169del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512986.1:p.Thr1723LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081909"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6156,
          "referenceAllele": "AC",
          "start": 6154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514685.1:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512987.1:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081910"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6156,
          "referenceAllele": "AC",
          "start": 6154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514686.1:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512988.1:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081911"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6156,
          "referenceAllele": "AC",
          "start": 6154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514687.1:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512989.1:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081912"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6131,
          "referenceAllele": "AC",
          "start": 6129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514688.1:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512990.1:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081913"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6131,
          "referenceAllele": "AC",
          "start": 6129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514689.1:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512991.1:p.Thr1960LysfsTer9",
        "hgvsWellDefined": "XP_011512991.1:p.[Thr1960_Leu1966delinsLys;Ile1968_Ala1977del;Gly1979_Glu1982delinsGln;Arg1984Thr;Ala1987_Val1990del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081914"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 22,
          "endIntronDirection": "-",
          "endIntronOffset": 25575,
          "referenceAllele": "AC",
          "start": 22,
          "startIntronDirection": "-",
          "startIntronOffset": 25577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514690.1:c.-17-25577_-17-25576del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512992.1:n.-17-25577_-17-25576del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081915"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6500,
          "referenceAllele": "AC",
          "start": 6498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514680.3:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512982.1:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543423"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6122,
          "referenceAllele": "AC",
          "start": 6120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514682.3:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512984.1:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543424"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5480,
          "referenceAllele": "AC",
          "start": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514683.3:c.5237_5238del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512985.1:p.Thr1746LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543425"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5266,
          "referenceAllele": "AC",
          "start": 5264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514684.3:c.5168_5169del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512986.1:p.Thr1723LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543426"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6156,
          "referenceAllele": "AC",
          "start": 6154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514686.2:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512988.1:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543427"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6122,
          "referenceAllele": "AC",
          "start": 6120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514688.2:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512990.1:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543428"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 70,
          "endIntronDirection": "-",
          "endIntronOffset": 25575,
          "referenceAllele": "AC",
          "start": 70,
          "startIntronDirection": "-",
          "startIntronOffset": 25577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514690.3:c.-17-25577_-17-25576del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512992.1:n.-17-25577_-17-25576del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543429"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5982,
          "referenceAllele": "AC",
          "start": 5980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010944.2:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866433.1:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564897"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6047,
          "referenceAllele": "AC",
          "start": 6045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010945.2:c.5804_5805del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866434.1:p.Thr1935LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564898"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6122,
          "referenceAllele": "AC",
          "start": 6120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010946.2:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866435.1:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564899"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5858,
          "referenceAllele": "AC",
          "start": 5856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010947.2:c.5615_5616del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866436.1:p.Thr1872LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564900"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5940,
          "referenceAllele": "AC",
          "start": 5938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010948.2:c.5168_5169del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866437.1:p.Thr1723LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564901"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5119,
          "referenceAllele": "AC",
          "start": 5117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010949.2:c.4019_4020del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866438.1:p.Thr1340LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564902"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6156,
          "referenceAllele": "AC",
          "start": 6154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010950.1:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866439.1:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564903"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6122,
          "referenceAllele": "AC",
          "start": 6120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010951.1:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866440.1:p.Thr1960LysfsTer9",
        "hgvsWellDefined": "XP_016866440.1:p.[Thr1960_Leu1966delinsLys;Ile1968_Ala1977del;Gly1979_Glu1982delinsGln;Arg1984Thr;Ala1987_Val1990del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564904"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6122,
          "referenceAllele": "AC",
          "start": 6120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010952.1:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866441.1:p.Thr1960LysfsTer9",
        "hgvsWellDefined": "XP_016866441.1:p.[Thr1960_Leu1966delinsLys;Ile1968_Ala1977del;Gly1979_Glu1982delinsGln;Arg1984Thr;Ala1987_Val1990del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564905"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6156,
          "referenceAllele": "AC",
          "start": 6154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XR_001743469.1:n.6155_6156del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592682"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6144,
          "referenceAllele": "AC",
          "start": 6142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_138694.4:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "NP_619639.3:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371117.8:c.5879_5880del"
          },
          "RefSeq": {
            "hgvs": "NM_138694.4:c.5879_5880del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360158.3:p.Thr1960LysfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_619639.3:p.Thr1960LysfsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6144,
          "referenceAllele": "AC",
          "start": 6142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_170724.3:c.5879_5880del"
      ],
      "proteinEffect": {
        "hgvs": "NP_733842.2:p.Thr1960LysfsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700451"
    }
  ],
  "type": "nucleotide"
}