{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA554942",
  "communityStandardTitle": [
    "NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=553539[alleleid]",
        "alleleId": 553539,
        "preferredName": "NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/562355",
        "RCV": [
          "RCV000681812",
          "RCV001237139",
          "RCV003453402"
        ],
        "variationId": 562355
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-6046217-G-A",
        "id": "1-6046217-G-A",
        "variant": "1:6046217 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.6046217G>A?assembly=hg19",
        "id": "chr1:g.6046217G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.5986157G>A?assembly=hg38",
        "id": "chr1:g.5986157G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370210428",
        "rs": 370210428
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-6046217-G-A?dataset=gnomad_r2_1",
        "id": "1-6046217-G-A",
        "variant": "1:6046217 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-5986157-G-A?dataset=gnomad_r3",
        "id": "1-5986157-G-A",
        "variant": "1:5986157 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-5986157-G-A?dataset=gnomad_r4",
        "id": "1-5986157-G-A",
        "variant": "1:5986157 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 5986157,
          "referenceAllele": "G",
          "start": 5986156
        }
      ],
      "hgvs": [
        "NC_000001.11:g.5986157G>A",
        "CM000663.2:g.5986157G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 6046217,
          "referenceAllele": "G",
          "start": 6046216
        }
      ],
      "hgvs": [
        "NC_000001.10:g.6046217G>A",
        "CM000663.1:g.6046217G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 5968804,
          "referenceAllele": "G",
          "start": 5968803
        }
      ],
      "hgvs": [
        "NC_000001.9:g.5968804G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11315,
          "referenceAllele": "C",
          "start": 11314
        }
      ],
      "hgvs": [
        "NG_011724.2:g.11315C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001929"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000378156.9:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367398.4:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378156.9:c.133C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015102.5:c.133C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367398.4:p.Gln45Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055917.1:p.Gln45Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000378156.8:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367398.4:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 375,
          "referenceAllele": "C",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000378169.7:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367411.3:p.Gln45Ter",
        "hgvsWellDefined": "ENSP00000367411.3:p.Gln45_Ala262delinsGlyValLeuGluValLeuSerGluValGluCysHisLeuArgValSerPhePheAspValThrTyrArgHisPhePheGlyArgThrTrpLysThrThrValLysProThrLysArgProProSerArgIleValPheAsnGluProLeuTyrPheHisThrSerLeuAsnHisProHisIleValAlaValValGluValValAlaGluGlyLysLysArgAspGlySerLeuGlnThrLeuSerCysGlyPheGlyIleLeuArgIlePheSerAsnGlnProAspSerProIleSerAlaSerGlnAspLysArgLeuArgLeuTyrHisGlyThrProArgAlaLeuLeuHisProLeuLeuGlnAspProAlaGluGlnAsnArgHisMetThrLeuIleGluAsnCysSerLeuGlnTyrThrLeuLysProHisProAlaLeuGluProAlaPheHisLeuLeuProGluAsnLeuLeuValSerGlyLeuGlnGlnIleProGlyLeuLeuProAlaHisGlyGluSerGlyMetTrpProThrGlyArgTrpCysProGlyAspProGlyAlaAlaProAlaCysGlyArgAlaGlnTrpSerGlyLeuArgAlaGluAlaAlaGlyArgCysThrGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271918"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "endIntronDirection": "+",
          "endIntronOffset": 6087,
          "referenceAllele": "C",
          "start": 181,
          "startIntronDirection": "+",
          "startIntronOffset": 6086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000478423.6:n.181+6087C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000489180.6:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423747.1:p.Gln45Ter",
        "hgvsWellDefined": "ENSP00000423747.1:p.Gln45_Asp911delinsGlyValLeuGluValLeuSerGluValGluCysHisLeuArgValSerPhePheAspValThrTyrArgHisPhePheGlyArgThrTrpLysThrThrValLysProThrLysArgProProSerArgIleValPheAsnGluProLeuTyrPheHisThrSerLeuAsnHisProHisIleValAlaValValGluValValAlaGluGlyLysLysArgAspGlySerLeuGlnThrLeuSerCysGlyPheGlyIleLeuArgIlePheSerAsnGlnProAspSerProIleSerAlaSerGlnAspLysArgLeuArgLeuTyrHisGlyThrProArgAlaLeuLeuHisProLeuLeuGlnAspProAlaGluGlnAsnArgHisMetThrLeuIleGluAsnCysSerLeuGlnTyrThrLeuLysProHisProAlaLeuGluProAlaPheHisLeuLeuProGluAsnLeuLeuValSerGlyLeuGlnGlnIleProGlyLeuLeuProAlaHisGlyGluSerGlyAspAlaLeuArgLysProArgLeuGlnLysProIleThrGlyHisLeuAspAspLeuPhePheThrLeuTyrProSerLeuGluLysPheGluGluGluLeuLeuGluLeuHisValGlnAspHisPheGlnGluGlyCysGlyProLeuAspGlyGlyAlaLeuGluIleLeuGluArgArgLeuArgValGlyValHisAsnGlyLeuGlyPheValGlnArgProGlnValValValLeuValProGluMetAspValAlaLeuThrArgSerAlaSerPheSerArgLysValValSerSerSerLysThrSerSerGlySerGlnAlaLeuValLeuArgSerArgLeuArgLeuProGluMetValGlyHisProAlaPheAlaValIlePheGlnLeuGluTyrValPheSerSerProAlaGlyValAspGlyAsnAlaAlaSerValThrSerLeuSerAsnLeuAlaCysMetHisMetValArgTrpAlaValTrpAsnProLeuLeuGluAlaAspSerGlyArgValThrLeuProLeuGlnGlyGlyIleGlnProAsnProSerHisCysLeuValTyrLysValProSerAlaSerMetSerSerGluGluValLysGlnValGluSerGlyThrLeuArgPheGlnPheSerLeuGlySerGluGluHisLeuAspAlaProThrGluProValSerGlyProLysValGluArgArgProSerArgLysProProThrSerProSerSerProProAlaProValProArgValLeuAlaAlaProGlnAsnSerProValGlyProGlyLeuSerIleSerGlnLeuAlaAlaSerProArgSerProThrGlnHisCysLeuAlaArgProThrSerGlnLeuProHisGlySerGlnAlaSerProAlaGlnAlaGluPheProLeuGluAlaGlyIleSerHisLeuGluAlaAspLeuSerGlnThrSerLeuValLeuGluThrSerIleAlaGluGlnLeuGlnGluLeuProPheThrProLeuHisAlaProIleValValGlyThrGlnThrArgSerSerAlaGlyGlnProSerArgAlaSerMetValLeuLeuGlnSerSerGlyPheProGluIleLeuAspAlaAsnLysGlnProAlaGluAlaValSerAlaThrGluProValThrPheAsnProGlnLysGluGluSerAspCysLeuGlnSerAsnGluMetValLeuGlnPheLeuAlaPheSerArgValAlaGlnAspCysArgGlyThrSerTrpProLysThrValTyrPheThrPheGlnPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgTrpAlaLeuGlnAlaThrValLeuPheGlyGluValGlyThrLeuProValAlaPheValSerGlyTrpLeuLeuIleCysLysGlyArgArgAsnGlyGluLysValArgArgAsnIleAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000622020.4:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481831.2:p.Gln45Ter",
        "hgvsWellDefined": "ENSP00000481831.2:p.Gln45_Asp911delinsGlyValLeuGluValLeuSerGluValGluCysHisLeuArgValSerPhePheAspValThrTyrArgHisPhePheGlyArgThrTrpLysThrThrValLysProThrLysArgProProSerArgIleValPheAsnGluProLeuTyrPheHisThrSerLeuAsnHisProHisIleValAlaValValGluValValAlaGluGlyLysLysArgAspGlySerLeuGlnThrLeuSerCysGlyPheGlyIleLeuArgIlePheSerAsnGlnProAspSerProIleSerAlaSerGlnAspLysArgLeuArgLeuTyrHisGlyThrProArgAlaLeuLeuHisProLeuLeuGlnAspProAlaGluGlnAsnArgHisMetThrLeuIleGluAsnCysSerLeuGlnTyrThrLeuLysProHisProAlaLeuGluProAlaPheHisLeuLeuProGluAsnLeuLeuValSerGlyLeuGlnGlnIleProGlyLeuLeuProAlaHisGlyGluSerGlyAspAlaLeuArgLysProArgLeuGlnLysProIleThrGlyHisLeuAspAspLeuPhePheThrLeuTyrProSerLeuGluLysPheGluGluGluLeuLeuGluLeuHisValGlnAspHisPheGlnGluGlyCysGlyProLeuAspGlyGlyAlaLeuGluIleLeuGluArgArgLeuArgValGlyValHisAsnGlyLeuGlyPheValGlnArgProGlnValValValLeuValProGluMetAspValAlaLeuThrArgSerAlaSerPheSerArgLysValValSerSerSerLysThrSerSerGlySerGlnAlaLeuValLeuArgSerArgLeuArgLeuProGluMetValGlyHisProAlaPheAlaValIlePheGlnLeuGluTyrValPheSerSerProAlaGlyValAspGlyAsnAlaAlaSerValThrSerLeuSerAsnLeuAlaCysMetHisMetValArgTrpAlaValTrpAsnProLeuLeuGluAlaAspSerGlyArgValThrLeuProLeuGlnGlyGlyIleGlnProAsnProSerHisCysLeuValTyrLysValProSerAlaSerMetSerSerGluGluValLysGlnValGluSerGlyThrLeuArgPheGlnPheSerLeuGlySerGluGluHisLeuAspAlaProThrGluProValSerGlyProLysValGluArgArgProSerArgLysProProThrSerProSerSerProProAlaProValProArgValLeuAlaAlaProGlnAsnSerProValGlyProGlyLeuSerIleSerGlnLeuAlaAlaSerProArgSerProThrGlnHisCysLeuAlaArgProThrSerGlnLeuProHisGlySerGlnAlaSerProAlaGlnAlaGluPheProLeuGluAlaGlyIleSerHisLeuGluAlaAspLeuSerGlnThrSerLeuValLeuGluThrSerIleAlaGluGlnLeuGlnGluLeuProPheThrProLeuHisAlaProIleValValGlyThrGlnThrArgSerSerAlaGlyGlnProSerArgAlaSerMetValLeuLeuGlnSerSerGlyPheProGluIleLeuAspAlaAsnLysGlnProAlaGluAlaValSerAlaThrGluProValThrPheAsnProGlnLysGluGluSerAspCysLeuGlnSerAsnGluMetValLeuGlnPheLeuAlaPheSerArgValAlaGlnAspCysArgGlyThrSerTrpProLysThrValTyrPheThrPheGlnPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgTrpAlaLeuGlnAlaThrValLeuPheGlyGluValGlyThrLeuProValAlaPheValSerGlyTrpLeuLeuIleCysLysGlyArgArgAsnGlyGluLysValArgArgAsnIleAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291593.1:c.-1097C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278522.1:n.-1097C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "endIntronDirection": "+",
          "endIntronOffset": 6087,
          "referenceAllele": "C",
          "start": 230,
          "startIntronDirection": "+",
          "startIntronOffset": 6086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291594.1:c.-1088+6087C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278523.1:n.-1088+6087C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_015102.4:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055917.1:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NR_111987.1:n.401C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "C",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_006710563.2:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710626.1:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_006710565.2:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710628.1:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541213.1:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539515.1:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541214.1:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539516.1:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541215.1:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539517.1:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 868,
          "referenceAllele": "C",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541216.1:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539518.1:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 732,
          "referenceAllele": "C",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541217.1:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539519.1:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "referenceAllele": "C",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541218.1:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539520.1:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541219.1:c.79C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539521.1:p.Gln27Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541220.1:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539522.1:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XR_946604.1:n.171C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XR_946605.1:n.171C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 247,
          "referenceAllele": "C",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_006710563.3:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710626.1:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537815"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541216.2:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539518.1:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541217.2:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539519.1:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 408,
          "referenceAllele": "C",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541218.2:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539520.1:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017000996.1:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856485.1:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 670,
          "referenceAllele": "C",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017000997.1:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856486.1:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017000998.1:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856487.1:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 166,
          "referenceAllele": "C",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017000999.1:c.-396C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856488.1:n.-396C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017001002.1:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856491.1:p.Gln45Ter",
        "hgvsWellDefined": "XP_016856491.1:p.Gln45_Leu939delinsGlyValLeuGluValLeuSerGluValGluCysHisLeuArgValSerPhePheAspValThrTyrArgHisPhePheGlyArgThrTrpLysThrThrValLysProThrLysArgProProSerArgIleValPheAsnGluProLeuTyrPheHisThrSerLeuAsnHisProHisIleValAlaValValGluValValAlaGluGlyLysLysArgAspGlySerLeuGlnThrLeuSerCysGlyPheGlyIleLeuArgIlePheSerAsnGlnProAspSerProIleSerAlaSerGlnAspLysArgLeuArgLeuTyrHisGlyThrProArgAlaLeuLeuHisProLeuLeuGlnAspProAlaGluGlnAsnArgHisMetThrLeuIleGluAsnCysSerLeuGlnTyrThrLeuLysProHisProAlaLeuGluProAlaPheHisLeuLeuProGluAsnLeuLeuValSerGlyLeuGlnGlnIleProGlyLeuLeuProAlaHisGlyGluSerGlyAspAlaLeuArgLysProArgLeuGlnLysProIleThrGlyHisLeuAspAspLeuPhePheThrLeuTyrProSerLeuGluLysPheGluGluGluLeuLeuGluLeuHisValGlnAspHisPheGlnGluGlyCysGlyProLeuAspGlyGlyAlaLeuGluIleLeuGluArgArgLeuArgValGlyValHisAsnGlyLeuGlyPheValGlnArgProGlnValValValLeuValProGluMetAspValAlaLeuThrArgSerAlaSerPheSerArgLysValValSerSerSerLysThrSerSerGlySerGlnAlaLeuValLeuArgSerArgLeuArgLeuProGluMetValGlyHisProAlaPheAlaValIlePheGlnLeuGluTyrValPheSerSerProAlaGlyValAspGlyAsnAlaAlaSerValThrSerLeuSerAsnLeuAlaCysMetHisMetValArgTrpAlaValTrpAsnProLeuLeuGluAlaAspSerGlyArgValThrLeuProLeuGlnGlyGlyIleGlnProAsnProSerHisCysLeuValTyrLysValProSerAlaSerMetSerSerGluGluValLysGlnValGluSerGlyThrLeuArgPheGlnPheSerLeuGlySerGluGluHisLeuAspAlaProThrGluProValSerGlyProLysValGluArgArgProSerArgLysProProThrSerProSerSerProProAlaProValProArgValLeuAlaAlaProGlnAsnSerProValGlyProGlyLeuSerIleSerGlnLeuAlaAlaSerProArgSerProThrGlnHisCysLeuAlaArgProThrSerGlnLeuProHisGlySerGlnAlaSerProAlaGlnAlaGlnGluPheProLeuGluAlaGlyIleSerHisLeuGluAlaAspLeuSerGlnThrSerLeuValLeuGluThrSerIleAlaGluGlnLeuGlnGluLeuProPheThrProLeuHisAlaProIleValValGlyThrGlnThrArgSerSerAlaGlyGlnProSerArgAlaSerMetValLeuLeuGlnSerSerGlyPheProGluIleLeuAspAlaAsnLysGlnProAlaGluAlaValSerAlaThrGluProValThrPheAsnProGlnLysGluGluSerAspCysLeuGlnSerAsnGluMetValLeuGlnPheLeuAlaPheSerArgValAlaGlnAspCysArgGlyThrSerTrpProLysThrValTyrPheThrPheGlnPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XR_001737114.1:n.171C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XR_001737115.1:n.171C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587933"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_015102.5:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055917.1:p.Gln45Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668638",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378156.9:c.133C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015102.5:c.133C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367398.4:p.Gln45Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055917.1:p.Gln45Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291593.2:c.-1097C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278522.1:n.-1097C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 182,
          "endIntronDirection": "+",
          "endIntronOffset": 6087,
          "referenceAllele": "C",
          "start": 182,
          "startIntronDirection": "+",
          "startIntronOffset": 6086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291594.2:c.-1088+6087C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278523.1:n.-1088+6087C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NR_111987.2:n.353C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703187"
    }
  ],
  "type": "nucleotide"
}