{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041044",
  "communityStandardTitle": [
    "NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357462[alleleid]",
        "alleleId": 357462,
        "preferredName": "NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370085",
        "RCV": [
          "RCV000410291",
          "RCV003463786"
        ],
        "variationId": 370085
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.51751956G>A?assembly=hg19",
        "id": "chr6:g.51751956G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.51887158G>A?assembly=hg38",
        "id": "chr6:g.51887158G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516221",
        "rs": 1057516221
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 51887158,
          "referenceAllele": "G",
          "start": 51887157
        }
      ],
      "hgvs": [
        "NC_000006.12:g.51887158G>A",
        "CM000668.2:g.51887158G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 51751956,
          "referenceAllele": "G",
          "start": 51751955
        }
      ],
      "hgvs": [
        "NC_000006.11:g.51751956G>A",
        "CM000668.1:g.51751956G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 51859915,
          "referenceAllele": "G",
          "start": 51859914
        }
      ],
      "hgvs": [
        "NC_000006.10:g.51859915G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 205468,
          "referenceAllele": "C",
          "start": 205467
        }
      ],
      "hgvs": [
        "NG_008753.1:g.205468C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001200"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7348,
          "referenceAllele": "C",
          "start": 7347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "ENST00000371117.8:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360158.3:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750727",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371117.8:c.7084C>T"
          },
          "RefSeq": {
            "hgvs": "NM_138694.4:c.7084C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360158.3:p.Gln2362Ter"
          },
          "RefSeq": {
            "hgvs": "NP_619639.3:p.Gln2362Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7345,
          "referenceAllele": "C",
          "start": 7344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "ENST00000340994.4:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341097.4:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7360,
          "referenceAllele": "C",
          "start": 7359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "ENST00000371117.7:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360158.3:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7360,
          "referenceAllele": "C",
          "start": 7359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_138694.3:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_619639.3:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7360,
          "referenceAllele": "C",
          "start": 7359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_170724.2:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_733842.2:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7184,
          "referenceAllele": "C",
          "start": 7183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514679.1:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512981.1:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081904"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7196,
          "referenceAllele": "C",
          "start": 7195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514680.1:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512982.1:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7335,
          "referenceAllele": "C",
          "start": 7334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514681.1:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512983.1:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7335,
          "referenceAllele": "C",
          "start": 7334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514682.1:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512984.1:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6693,
          "referenceAllele": "C",
          "start": 6692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514683.1:c.6442C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512985.1:p.Gln2148Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6457,
          "referenceAllele": "C",
          "start": 6456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514684.1:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512986.1:p.Gln2125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7360,
          "referenceAllele": "C",
          "start": 7359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514685.1:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512987.1:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7360,
          "referenceAllele": "C",
          "start": 7359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514686.1:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512988.1:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7360,
          "referenceAllele": "C",
          "start": 7359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514687.1:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512989.1:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7335,
          "referenceAllele": "C",
          "start": 7334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514688.1:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512990.1:p.Gln2362Ter",
        "hgvsWellDefined": "XP_011512990.1:p.Gln2362_Leu3278delinsAsnIleAlaHisSerCysThrArgTyrGlyLeuPheValTyrProLysPheGlnProProTrpAspAsnValThrGlyThrThrLeuPheGlnSerPheThrValTrpGluSerAlaGlyGlyAlaGlnIlePheArgSerSerAsnLeuArgLeuLysAsnPheLysValTyrSerCysArgAspPheGlyIleAspValLeuGluSerAspAlaAsnThrSerValThrAspSerLeuLeuLeuGlyHisPheAlaHisLysGlySerLeuCysMetSerSerGlyIleLysThrProLysArgTrpGluLeuMetValSerAsnThrThrPheValAsnPheAspLeuIleAsnCysValAlaIleArgThrCysSerAspCysSerGlnGlyGlnGlyGlyPheThrValLysThrSerGlnLeuLysPheThrAsnSerSerAsnLeuValAlaPheProPheProHisAlaAlaIleLeuGluAspLeuAspGlySerLeuSerGlyLysAsnArgSerHisIleLeuAlaSerMetGluThrLeuSerAlaSerCysLeuValAsnSerSerPheGlyArgValValHisGlySerAlaCysGlyGlyGlyValLeuPheHisArgMetSerIleGlyLeuAlaAsnThrProGluValSerTyrAspLeuThrMetThrAspSerArgAsnLysThrThrThrValAsnTyrValArgAspThrLeuSerAsnProArgGlyTrpMetAlaLeuLeuLeuAspGlnGluThrTyrSerLeuGlnSerGluAsnLeuTrpIleAsnArgSerLeuGlnTyrSerAlaThrPheAspAsnPheAlaProGlyAsnTyrLeuLeuLeuValHisThrAspLeuProProTyrProAspIleLeuLeuArgCysGlySerArgValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProAsnArgThrValLeuValAspThrAspLeuProPhePheLysGlyLeuTyrValMetGlyThrLeuAspPheProValAspArgSerAsnValLeuSerValAlaCysMetValIleAlaGlyGlyGluLeuLysValGlyThrLeuGluAsnProLeuGluLysGluGlnLysLeuLeuIleLeuLeuArgAlaSerGluGlyValPheCysAspArgMetAsnGlyIleHisIleAspProGlyThrIleGlyValTyrGlyLysValHisLeuTyrSerAlaTyrProLysAsnSerTrpThrHisLeuGlyAlaAspIleAlaSerGlyAsnGluArgIleIleValGluAspAlaValAspTrpArgProHisAspLysIleValLeuSerSerSerSerTyrGluProHisGluAlaGluValLeuThrValLysGluValLysGlyHisHisValArgIleTyrGluArgLeuLysHisArgHisIleGlySerValHisValThrGluAspGlyArgHisIleArgLeuAlaAlaGluValGlyLeuLeuThrArgAsnIleGlnIleGlnProAspValSerCysArgGlyArgLeuPheValGlySerPheArgLysSerSerArgGluGluPheSerGlyValLeuGlnLeuLeuAsnValGluIleGlnAsnPheGlySerProLeuTyrSerSerValGluPheSerAsnValSerAlaGlySerTrpIleIleSerSerThrLeuHisGlnSerCysGlyGlyGlyIleHisAlaAlaAlaSerHisGlyValLeuLeuAsnAspAsnIleValPheGlyThrAlaGlyHisGlyIleAspLeuGluGlyGlnAlaTyrThrValThrAsnAsnLeuValValLeuMetThrGlnProAlaTrpSerThrIleTrpValAlaGlyIleLysValAsnGlnValLysAspIleAsnLeuHisGlyAsnValValAlaGlySerGluArgLeuGlyPheHisIleArgGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7335,
          "referenceAllele": "C",
          "start": 7334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514689.1:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512991.1:p.Gln2362Ter",
        "hgvsWellDefined": "XP_011512991.1:p.Gln2362_Thr2770delinsAsnIleAlaHisSerCysThrArgTyrGlyLeuPheValTyrProLysPheGlnProProTrpAspAsnValThrGlyThrThrLeuPheGlnSerPheThrValTrpGluSerAlaGlyGlyAlaGlnIlePheArgSerSerAsnLeuArgLeuLysAsnPheLysValTyrSerCysArgAspPheGlyIleAspValLeuGluSerAspAlaAsnThrSerValThrAspSerLeuLeuLeuGlyHisPheAlaHisLysGlySerLeuCysMetSerSerGlyIleLysThrProLysArgTrpGluLeuMetValSerAsnThrThrPheValAsnPheAspLeuIleAsnCysValAlaIleArgThrCysSerAspCysSerGlnGlyGlnGlyGlyPheThrValLysThrSerGlnLeuLysPheThrAsnSerSerAsnLeuValAlaPheProPheProHisAlaAlaIleLeuGluAspLeuAspGlySerLeuSerGlyLysAsnArgSerHisIleLeuAlaSerMetGluThrLeuSerAlaSerCysLeuValAsnSerSerPheGlyArgValValHisGlySerAlaCysGlyGlyGlyValLeuPheHisArgMetSerIleGlyLeuAlaAsnThrProGluValSerTyrAspLeuThrMetThrAspSerArgAsnLysThrThrThrValAsnTyrValArgAspThrLeuSerAsnProArgGlyTrpMetAlaLeuLeuLeuAspGlnGluThrTyrSerLeuGlnSerGluAsnLeuTrpIleAsnArgSerLeuGlnTyrSerAlaThrPheAspAsnPheAlaProGlyAsnTyrLeuLeuLeuValHisThrAspLeuProProTyrProAspIleLeuLeuArgCysGlySerArgValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProThrPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081914"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1198,
          "referenceAllele": "C",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514690.1:c.1159C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512992.1:p.Gln387Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1517,
          "referenceAllele": "C",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514691.1:c.1159C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512993.1:p.Gln387Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7704,
          "referenceAllele": "C",
          "start": 7703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514680.3:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512982.1:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7326,
          "referenceAllele": "C",
          "start": 7325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514682.3:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512984.1:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6684,
          "referenceAllele": "C",
          "start": 6683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514683.3:c.6442C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512985.1:p.Gln2148Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6470,
          "referenceAllele": "C",
          "start": 6469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514684.3:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512986.1:p.Gln2125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7360,
          "referenceAllele": "C",
          "start": 7359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514686.2:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512988.1:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543427"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7326,
          "referenceAllele": "C",
          "start": 7325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514688.2:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512990.1:p.Gln2362Ter",
        "hgvsWellDefined": "XP_011512990.1:p.Gln2362_Leu3278delinsAsnIleAlaHisSerCysThrArgTyrGlyLeuPheValTyrProLysPheGlnProProTrpAspAsnValThrGlyThrThrLeuPheGlnSerPheThrValTrpGluSerAlaGlyGlyAlaGlnIlePheArgSerSerAsnLeuArgLeuLysAsnPheLysValTyrSerCysArgAspPheGlyIleAspValLeuGluSerAspAlaAsnThrSerValThrAspSerLeuLeuLeuGlyHisPheAlaHisLysGlySerLeuCysMetSerSerGlyIleLysThrProLysArgTrpGluLeuMetValSerAsnThrThrPheValAsnPheAspLeuIleAsnCysValAlaIleArgThrCysSerAspCysSerGlnGlyGlnGlyGlyPheThrValLysThrSerGlnLeuLysPheThrAsnSerSerAsnLeuValAlaPheProPheProHisAlaAlaIleLeuGluAspLeuAspGlySerLeuSerGlyLysAsnArgSerHisIleLeuAlaSerMetGluThrLeuSerAlaSerCysLeuValAsnSerSerPheGlyArgValValHisGlySerAlaCysGlyGlyGlyValLeuPheHisArgMetSerIleGlyLeuAlaAsnThrProGluValSerTyrAspLeuThrMetThrAspSerArgAsnLysThrThrThrValAsnTyrValArgAspThrLeuSerAsnProArgGlyTrpMetAlaLeuLeuLeuAspGlnGluThrTyrSerLeuGlnSerGluAsnLeuTrpIleAsnArgSerLeuGlnTyrSerAlaThrPheAspAsnPheAlaProGlyAsnTyrLeuLeuLeuValHisThrAspLeuProProTyrProAspIleLeuLeuArgCysGlySerArgValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProAsnArgThrValLeuValAspThrAspLeuProPhePheLysGlyLeuTyrValMetGlyThrLeuAspPheProValAspArgSerAsnValLeuSerValAlaCysMetValIleAlaGlyGlyGluLeuLysValGlyThrLeuGluAsnProLeuGluLysGluGlnLysLeuLeuIleLeuLeuArgAlaSerGluGlyValPheCysAspArgMetAsnGlyIleHisIleAspProGlyThrIleGlyValTyrGlyLysValHisLeuTyrSerAlaTyrProLysAsnSerTrpThrHisLeuGlyAlaAspIleAlaSerGlyAsnGluArgIleIleValGluAspAlaValAspTrpArgProHisAspLysIleValLeuSerSerSerSerTyrGluProHisGluAlaGluValLeuThrValLysGluValLysGlyHisHisValArgIleTyrGluArgLeuLysHisArgHisIleGlySerValHisValThrGluAspGlyArgHisIleArgLeuAlaAlaGluValGlyLeuLeuThrArgAsnIleGlnIleGlnProAspValSerCysArgGlyArgLeuPheValGlySerPheArgLysSerSerArgGluGluPheSerGlyValLeuGlnLeuLeuAsnValGluIleGlnAsnPheGlySerProLeuTyrSerSerValGluPheSerAsnValSerAlaGlySerTrpIleIleSerSerThrLeuHisGlnSerCysGlyGlyGlyIleHisAlaAlaAlaSerHisGlyValLeuLeuAsnAspAsnIleValPheGlyThrAlaGlyHisGlyIleAspLeuGluGlyGlnAlaTyrThrValThrAsnAsnLeuValValLeuMetThrGlnProAlaTrpSerThrIleTrpValAlaGlyIleLysValAsnGlnValLysAspIleAsnLeuHisGlyAsnValValAlaGlySerGluArgLeuGlyPheHisIleArgGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1246,
          "referenceAllele": "C",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514690.3:c.1159C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512992.1:p.Gln387Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7271,
          "referenceAllele": "C",
          "start": 7270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514691.3:c.1159C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512993.1:p.Gln387Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7186,
          "referenceAllele": "C",
          "start": 7185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010944.2:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866433.1:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7251,
          "referenceAllele": "C",
          "start": 7250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010945.2:c.7009C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866434.1:p.Gln2337Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7326,
          "referenceAllele": "C",
          "start": 7325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010946.2:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866435.1:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7062,
          "referenceAllele": "C",
          "start": 7061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010947.2:c.6820C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866436.1:p.Gln2274Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7144,
          "referenceAllele": "C",
          "start": 7143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010948.2:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866437.1:p.Gln2125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6323,
          "referenceAllele": "C",
          "start": 6322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010949.2:c.5224C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866438.1:p.Gln1742Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7360,
          "referenceAllele": "C",
          "start": 7359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010950.1:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866439.1:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7326,
          "referenceAllele": "C",
          "start": 7325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010951.1:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866440.1:p.Gln2362Ter",
        "hgvsWellDefined": "XP_016866440.1:p.Gln2362_Arg2941delinsAsnIleAlaHisSerCysThrArgTyrGlyLeuPheValTyrProLysPheGlnProProTrpAspAsnValThrGlyThrThrLeuPheGlnSerPheThrValTrpGluSerAlaGlyGlyAlaGlnIlePheArgSerSerAsnLeuArgLeuLysAsnPheLysValTyrSerCysArgAspPheGlyIleAspValLeuGluSerAspAlaAsnThrSerValThrAspSerLeuLeuLeuGlyHisPheAlaHisLysGlySerLeuCysMetSerSerGlyIleLysThrProLysArgTrpGluLeuMetValSerAsnThrThrPheValAsnPheAspLeuIleAsnCysValAlaIleArgThrCysSerAspCysSerGlnGlyGlnGlyGlyPheThrValLysThrSerGlnLeuLysPheThrAsnSerSerAsnLeuValAlaPheProPheProHisAlaAlaIleLeuGluAspLeuAspGlySerLeuSerGlyLysAsnArgSerHisIleLeuAlaSerMetGluThrLeuSerAlaSerCysLeuValAsnSerSerPheGlyArgValValHisGlySerAlaCysGlyGlyGlyValLeuPheHisArgMetSerIleGlyLeuAlaAsnThrProGluValSerTyrAspLeuThrMetThrAspSerArgAsnLysThrThrThrValAsnTyrValArgAspThrLeuSerAsnProArgGlyTrpMetAlaLeuLeuLeuAspGlnGluThrTyrSerLeuGlnSerGluAsnLeuTrpIleAsnArgSerLeuGlnTyrSerAlaThrPheAspAsnPheAlaProGlyAsnTyrLeuLeuLeuValHisThrAspLeuProProTyrProAspIleLeuLeuArgCysGlySerArgValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProAsnArgThrValLeuValAspThrAspLeuProPhePheLysGlyLeuTyrValMetGlyThrLeuAspPheProValAspArgSerAsnValLeuSerValAlaCysMetValIleAlaGlyGlyGluLeuLysValGlyThrLeuGluAsnProLeuGluLysGluGlnLysLeuLeuIleLeuLeuArgAlaSerGluGlyValPheCysAspArgMetAsnGlyIleHisIleAspProGlyThrIleGlyValTyrGlyLysValHisLeuTyrSerAlaTyrProLysAsnSerTrpThrHisLeuGlyAlaAspIleAlaSerGlyAsnGluArgIleIleValGluAspAlaValAspTrpArgProHisAspLysIleValLeuSerSerSerSerTyrGluProHisGluAlaGluValLeuThrValLysGluValLysGlyHisHisValArgIleTyrGluArgLeuLysHisArgHisIleGlyLysAlaLeuValCysTrpLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564904"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7326,
          "referenceAllele": "C",
          "start": 7325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010952.1:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866441.1:p.Gln2362Ter",
        "hgvsWellDefined": "XP_016866441.1:p.Gln2362_Thr2770delinsAsnIleAlaHisSerCysThrArgTyrGlyLeuPheValTyrProLysPheGlnProProTrpAspAsnValThrGlyThrThrLeuPheGlnSerPheThrValTrpGluSerAlaGlyGlyAlaGlnIlePheArgSerSerAsnLeuArgLeuLysAsnPheLysValTyrSerCysArgAspPheGlyIleAspValLeuGluSerAspAlaAsnThrSerValThrAspSerLeuLeuLeuGlyHisPheAlaHisLysGlySerLeuCysMetSerSerGlyIleLysThrProLysArgTrpGluLeuMetValSerAsnThrThrPheValAsnPheAspLeuIleAsnCysValAlaIleArgThrCysSerAspCysSerGlnGlyGlnGlyGlyPheThrValLysThrSerGlnLeuLysPheThrAsnSerSerAsnLeuValAlaPheProPheProHisAlaAlaIleLeuGluAspLeuAspGlySerLeuSerGlyLysAsnArgSerHisIleLeuAlaSerMetGluThrLeuSerAlaSerCysLeuValAsnSerSerPheGlyArgValValHisGlySerAlaCysGlyGlyGlyValLeuPheHisArgMetSerIleGlyLeuAlaAsnThrProGluValSerTyrAspLeuThrMetThrAspSerArgAsnLysThrThrThrValAsnTyrValArgAspThrLeuSerAsnProArgGlyTrpMetAlaLeuLeuLeuAspGlnGluThrTyrSerLeuGlnSerGluAsnLeuTrpIleAsnArgSerLeuGlnTyrSerAlaThrPheAspAsnPheAlaProGlyAsnTyrLeuLeuLeuValHisThrAspLeuProProTyrProAspIleLeuLeuArgCysGlySerArgValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProThrPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7360,
          "referenceAllele": "C",
          "start": 7359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XR_001743469.1:n.7360C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7348,
          "referenceAllele": "C",
          "start": 7347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_138694.4:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_619639.3:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371117.8:c.7084C>T"
          },
          "RefSeq": {
            "hgvs": "NM_138694.4:c.7084C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360158.3:p.Gln2362Ter"
          },
          "RefSeq": {
            "hgvs": "NP_619639.3:p.Gln2362Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7348,
          "referenceAllele": "C",
          "start": 7347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_170724.3:c.7084C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_733842.2:p.Gln2362Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700451"
    }
  ],
  "type": "nucleotide"
}