{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2927699",
  "communityStandardTitle": [
    "NM_025009.5(CEP135):c.874C>T (p.Arg292Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=508795[alleleid]",
        "alleleId": 508795,
        "preferredName": "NM_025009.5(CEP135):c.874C>T (p.Arg292Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/518356",
        "RCV": [
          "RCV000599697",
          "RCV001703213"
        ],
        "variationId": 518356
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-56831855-C-T",
        "id": "4-56831855-C-T",
        "variant": "4:56831855 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.56831855C>T?assembly=hg19",
        "id": "chr4:g.56831855C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.55965689C>T?assembly=hg38",
        "id": "chr4:g.55965689C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/752140135",
        "rs": 752140135
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-56831855-C-T?dataset=gnomad_r2_1",
        "id": "4-56831855-C-T",
        "variant": "4:56831855 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-55965689-C-T?dataset=gnomad_r3",
        "id": "4-55965689-C-T",
        "variant": "4:55965689 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-55965689-C-T?dataset=gnomad_r4",
        "id": "4-55965689-C-T",
        "variant": "4:55965689 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 55965689,
          "referenceAllele": "C",
          "start": 55965688
        }
      ],
      "hgvs": [
        "NC_000004.12:g.55965689C>T",
        "CM000666.2:g.55965689C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 56831855,
          "referenceAllele": "C",
          "start": 56831854
        }
      ],
      "hgvs": [
        "NC_000004.11:g.56831855C>T",
        "CM000666.1:g.56831855C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 56526612,
          "referenceAllele": "C",
          "start": 56526611
        }
      ],
      "hgvs": [
        "NC_000004.10:g.56526612C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21882,
          "referenceAllele": "C",
          "start": 21881
        }
      ],
      "hgvs": [
        "NG_032806.1:g.21882C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005228"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1034,
          "referenceAllele": "C",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029086",
      "geneNCBI_id": 9662,
      "geneSymbol": "CEP135",
      "hgvs": [
        "ENST00000257287.5:c.874C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257287.3:p.Arg292Ter",
        "hgvsWellDefined": "ENSP00000257287.3:p.Arg292_Val1140delinsGluLeuMetGluThrLysGluThrValThrSerGluValValAsnLeuSerAsnLysAsnGluLysLeuCysGlnGluLeuThrGluIleAspGlnLeuAlaGlnGlnLeuGluArgHisLysGluGluValLeuGluThrAlaAspLysGluLeuGlyGluAlaLysLysGluIleLysArgLysLeuSerGluMetGlnAspLeuGluGluThrMetAlaLysLeuGlnLeuGluLeuAsnLeuCysGlnLysGluLysGluArgLeuSerAspGluLeuLeuValLysSerAspLeuGluThrValValHisGlnLeuGluGlnGluLysGlnArgLeuSerLysLysValGluSerPheAlaValThrGluArgGlnLeuThrLeuGluValGluArgMetArgLeuGluHisGlyIleLysArgArgAspArgSerProSerArgLeuAspThrPheLeuLysGlyIleGluGluGluArgAspTyrTyrLysLysGluLeuGluArgLeuGlnHisIleIleGlnArgArgSerCysSerThrSerTyrSerAlaArgGluLysSerSerIlePheArgThrProGluLysGlyAspTyrAsnSerGluIleHisGlnIleThrArgGluArgAspGluLeuGlnArgMetLeuGluArgPheGluLysTyrMetGluAspIleGlnSerAsnValLysLeuLeuThrAlaGluArgAspLysLeuSerValLeuTyrAsnGluAlaGlnGluGluLeuSerAlaLeuArgLysGluSerThrGlnThrThrAlaProHisAsnIleValSerLeuMetGluLysGluLysGluLeuAlaLeuSerAspLeuArgArgIleMetAlaGluLysGluAlaLeuArgGluLysLeuGluHisIleGluGluValSerLeuPheGlyLysSerGluLeuGluLysThrIleGluHisLeuThrCysValAsnHisGlnLeuGluSerGluLysTyrGluLeuLysSerLysValLeuIleMetLysGluThrIleGluSerLeuGluAsnLysLeuLysValGlnAlaGlnLysPheSerHisValAlaGlyAspSerSerHisGlnLysThrGluValAsnSerLeuArgIleValAsnGluGlnLeuGlnArgSerValAspAspTyrGlnHisArgLeuSerIleLysArgGlyGluLeuGluSerAlaGlnAlaGlnIleLysIleLeuGluGluLysIleAspGluLeuAsnLeuLysMetThrSerGlnAspGluGluAlaHisValMetLysLysThrIleGlyValIleAspLysGluLysAspPheLeuGlnGluThrValAspGluLysThrGluLysIleAlaAsnLeuGlnGluAsnLeuAlaAsnLysGluLysAlaValAlaGlnMetLysIleMetIleSerGluCysGluSerSerValAsnGlnLeuLysGluThrLeuValAsnArgAspArgGluIleAsnSerLeuArgArgGlnLeuAspAlaAlaHisLysGluLeuAspGluValGlyArgSerArgGluIleAlaPheLysGluAsnArgArgLeuGlnAspAspLeuAlaThrMetAlaArgGluAsnGlnGluIleSerLeuGluLeuGluAlaAlaValGlnGluLysGluGluMetLysSerArgValHisLysTyrIleThrGluValSerArgTrpGluSerLeuMetAlaAlaLysGluLysGluAsnGlnAspLeuLeuAspArgPheGlnMetLeuHisAsnArgAlaGluAspTrpGluValLysAlaHisGlnAlaGluGlyGluSerSerSerValArgLeuGluLeuLeuSerIleAspThrGluArgArgHisLeuArgGluArgValGluLeuLeuGluLysGluIleGlnGluHisIleAsnAlaHisHisAlaTyrGluSerGlnIleSerSerMetAlaLysAlaMetSerArgLeuGluGluGluLeuArgHisGlnGluAspGluLysAlaThrValLeuAsnAspLeuSerSerLeuArgGluLeuCysIleLysLeuAspSerGlyLysAspIleMetThrGlnGlnLeuAsnSerLysAsnLeuGluPheGluArgValValValGluLeuGluAsnValLysSerGluSerAspLeuLeuLysLysGlnLeuSerAsnGluArgHisThrValLysAsnLeuGluSerLeuLeuAlaThrAsnArgAspLysGluPheHisSerHisLeuThrSerHisGluLysAspThrGluIleGlnLeuLeuLysGluLysLeuThrLeuSerGluSerLysLeuThrSerGlnSerArgGluAsnThrMetLeuArgAlaLysValAlaGlnLeuGlnThrAspTyrAspAlaLeuLysArgGlnIleSerThrGluArgTyrGluArgGluArgAlaIleGlnGluMetArgArgHisGlyLeuAlaThrProProLeuSerSerThrLeuArgSerProSerHisSerProGluHisArgAsnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741825",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257287.5:c.874C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025009.5:c.874C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257287.3:p.Arg292Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079285.2:p.Arg292Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029086",
      "geneNCBI_id": 9662,
      "geneSymbol": "CEP135",
      "hgvs": [
        "ENST00000257287.4:c.874C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257287.3:p.Arg292Ter",
        "hgvsWellDefined": "ENSP00000257287.3:p.Arg292_Val1140delinsGluLeuMetGluThrLysGluThrValThrSerGluValValAsnLeuSerAsnLysAsnGluLysLeuCysGlnGluLeuThrGluIleAspGlnLeuAlaGlnGlnLeuGluArgHisLysGluGluValLeuGluThrAlaAspLysGluLeuGlyGluAlaLysLysGluIleLysArgLysLeuSerGluMetGlnAspLeuGluGluThrMetAlaLysLeuGlnLeuGluLeuAsnLeuCysGlnLysGluLysGluArgLeuSerAspGluLeuLeuValLysSerAspLeuGluThrValValHisGlnLeuGluGlnGluLysGlnArgLeuSerLysLysValGluSerPheAlaValThrGluArgGlnLeuThrLeuGluValGluArgMetArgLeuGluHisGlyIleLysArgArgAspArgSerProSerArgLeuAspThrPheLeuLysGlyIleGluGluGluArgAspTyrTyrLysLysGluLeuGluArgLeuGlnHisIleIleGlnArgArgSerCysSerThrSerTyrSerAlaArgGluLysSerSerIlePheArgThrProGluLysGlyAspTyrAsnSerGluIleHisGlnIleThrArgGluArgAspGluLeuGlnArgMetLeuGluArgPheGluLysTyrMetGluAspIleGlnSerAsnValLysLeuLeuThrAlaGluArgAspLysLeuSerValLeuTyrAsnGluAlaGlnGluGluLeuSerAlaLeuArgLysGluSerThrGlnThrThrAlaProHisAsnIleValSerLeuMetGluLysGluLysGluLeuAlaLeuSerAspLeuArgArgIleMetAlaGluLysGluAlaLeuArgGluLysLeuGluHisIleGluGluValSerLeuPheGlyLysSerGluLeuGluLysThrIleGluHisLeuThrCysValAsnHisGlnLeuGluSerGluLysTyrGluLeuLysSerLysValLeuIleMetLysGluThrIleGluSerLeuGluAsnLysLeuLysValGlnAlaGlnLysPheSerHisValAlaGlyAspSerSerHisGlnLysThrGluValAsnSerLeuArgIleValAsnGluGlnLeuGlnArgSerValAspAspTyrGlnHisArgLeuSerIleLysArgGlyGluLeuGluSerAlaGlnAlaGlnIleLysIleLeuGluGluLysIleAspGluLeuAsnLeuLysMetThrSerGlnAspGluGluAlaHisValMetLysLysThrIleGlyValIleAspLysGluLysAspPheLeuGlnGluThrValAspGluLysThrGluLysIleAlaAsnLeuGlnGluAsnLeuAlaAsnLysGluLysAlaValAlaGlnMetLysIleMetIleSerGluCysGluSerSerValAsnGlnLeuLysGluThrLeuValAsnArgAspArgGluIleAsnSerLeuArgArgGlnLeuAspAlaAlaHisLysGluLeuAspGluValGlyArgSerArgGluIleAlaPheLysGluAsnArgArgLeuGlnAspAspLeuAlaThrMetAlaArgGluAsnGlnGluIleSerLeuGluLeuGluAlaAlaValGlnGluLysGluGluMetLysSerArgValHisLysTyrIleThrGluValSerArgTrpGluSerLeuMetAlaAlaLysGluLysGluAsnGlnAspLeuLeuAspArgPheGlnMetLeuHisAsnArgAlaGluAspTrpGluValLysAlaHisGlnAlaGluGlyGluSerSerSerValArgLeuGluLeuLeuSerIleAspThrGluArgArgHisLeuArgGluArgValGluLeuLeuGluLysGluIleGlnGluHisIleAsnAlaHisHisAlaTyrGluSerGlnIleSerSerMetAlaLysAlaMetSerArgLeuGluGluGluLeuArgHisGlnGluAspGluLysAlaThrValLeuAsnAspLeuSerSerLeuArgGluLeuCysIleLysLeuAspSerGlyLysAspIleMetThrGlnGlnLeuAsnSerLysAsnLeuGluPheGluArgValValValGluLeuGluAsnValLysSerGluSerAspLeuLeuLysLysGlnLeuSerAsnGluArgHisThrValLysAsnLeuGluSerLeuLeuAlaThrAsnArgAspLysGluPheHisSerHisLeuThrSerHisGluLysAspThrGluIleGlnLeuLeuLysGluLysLeuThrLeuSerGluSerLysLeuThrSerGlnSerArgGluAsnThrMetLeuArgAlaLysValAlaGlnLeuGlnThrAspTyrAspAlaLeuLysArgGlnIleSerThrGluArgTyrGluArgGluArgAlaIleGlnGluMetArgArgHisGlyLeuAlaThrProProLeuSerSerThrLeuArgSerProSerHisSerProGluHisArgAsnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029086",
      "geneNCBI_id": 9662,
      "geneSymbol": "CEP135",
      "hgvs": [
        "ENST00000506202.1:n.824C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 508,
          "referenceAllele": "C",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029086",
      "geneNCBI_id": 9662,
      "geneSymbol": "CEP135",
      "hgvs": [
        "ENST00000515081.1:n.508C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658814126",
      "coordinates": [
        {
          "allele": "T",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029086",
      "geneNCBI_id": 9662,
      "geneSymbol": "CEP135",
      "hgvs": [
        "NM_025009.4:c.874C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079285.2:p.Arg292Ter",
        "hgvsWellDefined": "NP_079285.2:p.Arg292_Val1140delinsGluLeuMetGluThrLysGluThrValThrSerGluValValAsnLeuSerAsnLysAsnGluLysLeuCysGlnGluLeuThrGluIleAspGlnLeuAlaGlnGlnLeuGluArgHisLysGluGluValLeuGluThrAlaAspLysGluLeuGlyGluAlaLysLysGluIleLysArgLysLeuSerGluMetGlnAspLeuGluGluThrMetAlaLysLeuGlnLeuGluLeuAsnLeuCysGlnLysGluLysGluArgLeuSerAspGluLeuLeuValLysSerAspLeuGluThrValValHisGlnLeuGluGlnGluLysGlnArgLeuSerLysLysValGluSerPheAlaValThrGluArgGlnLeuThrLeuGluValGluArgMetArgLeuGluHisGlyIleLysArgArgAspArgSerProSerArgLeuAspThrPheLeuLysGlyIleGluGluGluArgAspTyrTyrLysLysGluLeuGluArgLeuGlnHisIleIleGlnArgArgSerCysSerThrSerTyrSerAlaArgGluLysSerSerIlePheArgThrProGluLysGlyAspTyrAsnSerGluIleHisGlnIleThrArgGluArgAspGluLeuGlnArgMetLeuGluArgPheGluLysTyrMetGluAspIleGlnSerAsnValLysLeuLeuThrAlaGluArgAspLysLeuSerValLeuTyrAsnGluAlaGlnGluGluLeuSerAlaLeuArgLysGluSerThrGlnThrThrAlaProHisAsnIleValSerLeuMetGluLysGluLysGluLeuAlaLeuSerAspLeuArgArgIleMetAlaGluLysGluAlaLeuArgGluLysLeuGluHisIleGluGluValSerLeuPheGlyLysSerGluLeuGluLysThrIleGluHisLeuThrCysValAsnHisGlnLeuGluSerGluLysTyrGluLeuLysSerLysValLeuIleMetLysGluThrIleGluSerLeuGluAsnLysLeuLysValGlnAlaGlnLysPheSerHisValAlaGlyAspSerSerHisGlnLysThrGluValAsnSerLeuArgIleValAsnGluGlnLeuGlnArgSerValAspAspTyrGlnHisArgLeuSerIleLysArgGlyGluLeuGluSerAlaGlnAlaGlnIleLysIleLeuGluGluLysIleAspGluLeuAsnLeuLysMetThrSerGlnAspGluGluAlaHisValMetLysLysThrIleGlyValIleAspLysGluLysAspPheLeuGlnGluThrValAspGluLysThrGluLysIleAlaAsnLeuGlnGluAsnLeuAlaAsnLysGluLysAlaValAlaGlnMetLysIleMetIleSerGluCysGluSerSerValAsnGlnLeuLysGluThrLeuValAsnArgAspArgGluIleAsnSerLeuArgArgGlnLeuAspAlaAlaHisLysGluLeuAspGluValGlyArgSerArgGluIleAlaPheLysGluAsnArgArgLeuGlnAspAspLeuAlaThrMetAlaArgGluAsnGlnGluIleSerLeuGluLeuGluAlaAlaValGlnGluLysGluGluMetLysSerArgValHisLysTyrIleThrGluValSerArgTrpGluSerLeuMetAlaAlaLysGluLysGluAsnGlnAspLeuLeuAspArgPheGlnMetLeuHisAsnArgAlaGluAspTrpGluValLysAlaHisGlnAlaGluGlyGluSerSerSerValArgLeuGluLeuLeuSerIleAspThrGluArgArgHisLeuArgGluArgValGluLeuLeuGluLysGluIleGlnGluHisIleAsnAlaHisHisAlaTyrGluSerGlnIleSerSerMetAlaLysAlaMetSerArgLeuGluGluGluLeuArgHisGlnGluAspGluLysAlaThrValLeuAsnAspLeuSerSerLeuArgGluLeuCysIleLysLeuAspSerGlyLysAspIleMetThrGlnGlnLeuAsnSerLysAsnLeuGluPheGluArgValValValGluLeuGluAsnValLysSerGluSerAspLeuLeuLysLysGlnLeuSerAsnGluArgHisThrValLysAsnLeuGluSerLeuLeuAlaThrAsnArgAspLysGluPheHisSerHisLeuThrSerHisGluLysAspThrGluIleGlnLeuLeuLysGluLysLeuThrLeuSerGluSerLysLeuThrSerGlnSerArgGluAsnThrMetLeuArgAlaLysValAlaGlnLeuGlnThrAspTyrAspAlaLeuLysArgGlnIleSerThrGluArgTyrGluArgGluArgAlaIleGlnGluMetArgArgHisGlyLeuAlaThrProProLeuSerSerThrLeuArgSerProSerHisSerProGluHisArgAsnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029086",
      "geneNCBI_id": 9662,
      "geneSymbol": "CEP135",
      "hgvs": [
        "XM_006714055.2:c.874C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714118.1:p.Arg292Ter",
        "hgvsWellDefined": "XP_006714118.1:p.Arg292_Val1129delinsGluLeuMetGluThrLysGluThrValThrSerGluValValAsnLeuSerAsnLysAsnGluLysLeuCysGlnGluLeuThrGluIleAspGlnLeuAlaGlnGlnLeuGluArgHisLysGluGluValLeuGluThrAlaAspLysGluLeuGlyGluAlaLysAspLeuGluGluThrMetAlaLysLeuGlnLeuGluLeuAsnLeuCysGlnLysGluLysGluArgLeuSerAspGluLeuLeuValLysSerAspLeuGluThrValValHisGlnLeuGluGlnGluLysGlnArgLeuSerLysLysValGluSerPheAlaValThrGluArgGlnLeuThrLeuGluValGluArgMetArgLeuGluHisGlyIleLysArgArgAspArgSerProSerArgLeuAspThrPheLeuLysGlyIleGluGluGluArgAspTyrTyrLysLysGluLeuGluArgLeuGlnHisIleIleGlnArgArgSerCysSerThrSerTyrSerAlaArgGluLysSerSerIlePheArgThrProGluLysGlyAspTyrAsnSerGluIleHisGlnIleThrArgGluArgAspGluLeuGlnArgMetLeuGluArgPheGluLysTyrMetGluAspIleGlnSerAsnValLysLeuLeuThrAlaGluArgAspLysLeuSerValLeuTyrAsnGluAlaGlnGluGluLeuSerAlaLeuArgLysGluSerThrGlnThrThrAlaProHisAsnIleValSerLeuMetGluLysGluLysGluLeuAlaLeuSerAspLeuArgArgIleMetAlaGluLysGluAlaLeuArgGluLysLeuGluHisIleGluGluValSerLeuPheGlyLysSerGluLeuGluLysThrIleGluHisLeuThrCysValAsnHisGlnLeuGluSerGluLysTyrGluLeuLysSerLysValLeuIleMetLysGluThrIleGluSerLeuGluAsnLysLeuLysValGlnAlaGlnLysPheSerHisValAlaGlyAspSerSerHisGlnLysThrGluValAsnSerLeuArgIleValAsnGluGlnLeuGlnArgSerValAspAspTyrGlnHisArgLeuSerIleLysArgGlyGluLeuGluSerAlaGlnAlaGlnIleLysIleLeuGluGluLysIleAspGluLeuAsnLeuLysMetThrSerGlnAspGluGluAlaHisValMetLysLysThrIleGlyValIleAspLysGluLysAspPheLeuGlnGluThrValAspGluLysThrGluLysIleAlaAsnLeuGlnGluAsnLeuAlaAsnLysGluLysAlaValAlaGlnMetLysIleMetIleSerGluCysGluSerSerValAsnGlnLeuLysGluThrLeuValAsnArgAspArgGluIleAsnSerLeuArgArgGlnLeuAspAlaAlaHisLysGluLeuAspGluValGlyArgSerArgGluIleAlaPheLysGluAsnArgArgLeuGlnAspAspLeuAlaThrMetAlaArgGluAsnGlnGluIleSerLeuGluLeuGluAlaAlaValGlnGluLysGluGluMetLysSerArgValHisLysTyrIleThrGluValSerArgTrpGluSerLeuMetAlaAlaLysGluLysGluAsnGlnAspLeuLeuAspArgPheGlnMetLeuHisAsnArgAlaGluAspTrpGluValLysAlaHisGlnAlaGluGlyGluSerSerSerValArgLeuGluLeuLeuSerIleAspThrGluArgArgHisLeuArgGluArgValGluLeuLeuGluLysGluIleGlnGluHisIleAsnAlaHisHisAlaTyrGluSerGlnIleSerSerMetAlaLysAlaMetSerArgLeuGluGluGluLeuArgHisGlnGluAspGluLysAlaThrValLeuAsnAspLeuSerSerLeuArgGluLeuCysIleLysLeuAspSerGlyLysAspIleMetThrGlnGlnLeuAsnSerLysAsnLeuGluPheGluArgValValValGluLeuGluAsnValLysSerGluSerAspLeuLeuLysLysGlnLeuSerAsnGluArgHisThrValLysAsnLeuGluSerLeuLeuAlaThrAsnArgAspLysGluPheHisSerHisLeuThrSerHisGluLysAspThrGluIleGlnLeuLeuLysGluLysLeuThrLeuSerGluSerLysLeuThrSerGlnSerArgGluAsnThrMetLeuArgAlaLysValAlaGlnLeuGlnThrAspTyrAspAlaLeuLysArgGlnIleSerThrGluArgTyrGluArgGluArgAlaIleGlnGluMetArgArgHisGlyLeuAlaThrProProLeuSerSerThrLeuArgSerProSerHisSerProGluHisArgAsnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070478"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 471,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 471,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "hgvs": [
        "XR_941063.1:n.472-686G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 471,
          "endIntronDirection": "+",
          "endIntronOffset": 5084,
          "referenceAllele": "G",
          "start": 471,
          "startIntronDirection": "+",
          "startIntronOffset": 5083
        }
      ],
      "hgvs": [
        "XR_941064.1:n.471+5084G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "referenceAllele": "C",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029086",
      "geneNCBI_id": 9662,
      "geneSymbol": "CEP135",
      "hgvs": [
        "XM_005265788.4:c.-194C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265845.1:n.-194C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029086",
      "geneNCBI_id": 9662,
      "geneSymbol": "CEP135",
      "hgvs": [
        "XM_006714055.3:c.874C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714118.1:p.Arg292Ter",
        "hgvsWellDefined": "XP_006714118.1:p.Arg292_Val1129delinsGluLeuMetGluThrLysGluThrValThrSerGluValValAsnLeuSerAsnLysAsnGluLysLeuCysGlnGluLeuThrGluIleAspGlnLeuAlaGlnGlnLeuGluArgHisLysGluGluValLeuGluThrAlaAspLysGluLeuGlyGluAlaLysAspLeuGluGluThrMetAlaLysLeuGlnLeuGluLeuAsnLeuCysGlnLysGluLysGluArgLeuSerAspGluLeuLeuValLysSerAspLeuGluThrValValHisGlnLeuGluGlnGluLysGlnArgLeuSerLysLysValGluSerPheAlaValThrGluArgGlnLeuThrLeuGluValGluArgMetArgLeuGluHisGlyIleLysArgArgAspArgSerProSerArgLeuAspThrPheLeuLysGlyIleGluGluGluArgAspTyrTyrLysLysGluLeuGluArgLeuGlnHisIleIleGlnArgArgSerCysSerThrSerTyrSerAlaArgGluLysSerSerIlePheArgThrProGluLysGlyAspTyrAsnSerGluIleHisGlnIleThrArgGluArgAspGluLeuGlnArgMetLeuGluArgPheGluLysTyrMetGluAspIleGlnSerAsnValLysLeuLeuThrAlaGluArgAspLysLeuSerValLeuTyrAsnGluAlaGlnGluGluLeuSerAlaLeuArgLysGluSerThrGlnThrThrAlaProHisAsnIleValSerLeuMetGluLysGluLysGluLeuAlaLeuSerAspLeuArgArgIleMetAlaGluLysGluAlaLeuArgGluLysLeuGluHisIleGluGluValSerLeuPheGlyLysSerGluLeuGluLysThrIleGluHisLeuThrCysValAsnHisGlnLeuGluSerGluLysTyrGluLeuLysSerLysValLeuIleMetLysGluThrIleGluSerLeuGluAsnLysLeuLysValGlnAlaGlnLysPheSerHisValAlaGlyAspSerSerHisGlnLysThrGluValAsnSerLeuArgIleValAsnGluGlnLeuGlnArgSerValAspAspTyrGlnHisArgLeuSerIleLysArgGlyGluLeuGluSerAlaGlnAlaGlnIleLysIleLeuGluGluLysIleAspGluLeuAsnLeuLysMetThrSerGlnAspGluGluAlaHisValMetLysLysThrIleGlyValIleAspLysGluLysAspPheLeuGlnGluThrValAspGluLysThrGluLysIleAlaAsnLeuGlnGluAsnLeuAlaAsnLysGluLysAlaValAlaGlnMetLysIleMetIleSerGluCysGluSerSerValAsnGlnLeuLysGluThrLeuValAsnArgAspArgGluIleAsnSerLeuArgArgGlnLeuAspAlaAlaHisLysGluLeuAspGluValGlyArgSerArgGluIleAlaPheLysGluAsnArgArgLeuGlnAspAspLeuAlaThrMetAlaArgGluAsnGlnGluIleSerLeuGluLeuGluAlaAlaValGlnGluLysGluGluMetLysSerArgValHisLysTyrIleThrGluValSerArgTrpGluSerLeuMetAlaAlaLysGluLysGluAsnGlnAspLeuLeuAspArgPheGlnMetLeuHisAsnArgAlaGluAspTrpGluValLysAlaHisGlnAlaGluGlyGluSerSerSerValArgLeuGluLeuLeuSerIleAspThrGluArgArgHisLeuArgGluArgValGluLeuLeuGluLysGluIleGlnGluHisIleAsnAlaHisHisAlaTyrGluSerGlnIleSerSerMetAlaLysAlaMetSerArgLeuGluGluGluLeuArgHisGlnGluAspGluLysAlaThrValLeuAsnAspLeuSerSerLeuArgGluLeuCysIleLysLeuAspSerGlyLysAspIleMetThrGlnGlnLeuAsnSerLysAsnLeuGluPheGluArgValValValGluLeuGluAsnValLysSerGluSerAspLeuLeuLysLysGlnLeuSerAsnGluArgHisThrValLysAsnLeuGluSerLeuLeuAlaThrAsnArgAspLysGluPheHisSerHisLeuThrSerHisGluLysAspThrGluIleGlnLeuLeuLysGluLysLeuThrLeuSerGluSerLysLeuThrSerGlnSerArgGluAsnThrMetLeuArgAlaLysValAlaGlnLeuGlnThrAspTyrAspAlaLeuLysArgGlnIleSerThrGluArgTyrGluArgGluArgAlaIleGlnGluMetArgArgHisGlyLeuAlaThrProProLeuSerSerThrLeuArgSerProSerHisSerProGluHisArgAsnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658814126",
      "coordinates": [
        {
          "allele": "T",
          "end": 1034,
          "referenceAllele": "C",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029086",
      "geneNCBI_id": 9662,
      "geneSymbol": "CEP135",
      "hgvs": [
        "NM_025009.5:c.874C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079285.2:p.Arg292Ter",
        "hgvsWellDefined": "NP_079285.2:p.Arg292_Val1140delinsGluLeuMetGluThrLysGluThrValThrSerGluValValAsnLeuSerAsnLysAsnGluLysLeuCysGlnGluLeuThrGluIleAspGlnLeuAlaGlnGlnLeuGluArgHisLysGluGluValLeuGluThrAlaAspLysGluLeuGlyGluAlaLysLysGluIleLysArgLysLeuSerGluMetGlnAspLeuGluGluThrMetAlaLysLeuGlnLeuGluLeuAsnLeuCysGlnLysGluLysGluArgLeuSerAspGluLeuLeuValLysSerAspLeuGluThrValValHisGlnLeuGluGlnGluLysGlnArgLeuSerLysLysValGluSerPheAlaValThrGluArgGlnLeuThrLeuGluValGluArgMetArgLeuGluHisGlyIleLysArgArgAspArgSerProSerArgLeuAspThrPheLeuLysGlyIleGluGluGluArgAspTyrTyrLysLysGluLeuGluArgLeuGlnHisIleIleGlnArgArgSerCysSerThrSerTyrSerAlaArgGluLysSerSerIlePheArgThrProGluLysGlyAspTyrAsnSerGluIleHisGlnIleThrArgGluArgAspGluLeuGlnArgMetLeuGluArgPheGluLysTyrMetGluAspIleGlnSerAsnValLysLeuLeuThrAlaGluArgAspLysLeuSerValLeuTyrAsnGluAlaGlnGluGluLeuSerAlaLeuArgLysGluSerThrGlnThrThrAlaProHisAsnIleValSerLeuMetGluLysGluLysGluLeuAlaLeuSerAspLeuArgArgIleMetAlaGluLysGluAlaLeuArgGluLysLeuGluHisIleGluGluValSerLeuPheGlyLysSerGluLeuGluLysThrIleGluHisLeuThrCysValAsnHisGlnLeuGluSerGluLysTyrGluLeuLysSerLysValLeuIleMetLysGluThrIleGluSerLeuGluAsnLysLeuLysValGlnAlaGlnLysPheSerHisValAlaGlyAspSerSerHisGlnLysThrGluValAsnSerLeuArgIleValAsnGluGlnLeuGlnArgSerValAspAspTyrGlnHisArgLeuSerIleLysArgGlyGluLeuGluSerAlaGlnAlaGlnIleLysIleLeuGluGluLysIleAspGluLeuAsnLeuLysMetThrSerGlnAspGluGluAlaHisValMetLysLysThrIleGlyValIleAspLysGluLysAspPheLeuGlnGluThrValAspGluLysThrGluLysIleAlaAsnLeuGlnGluAsnLeuAlaAsnLysGluLysAlaValAlaGlnMetLysIleMetIleSerGluCysGluSerSerValAsnGlnLeuLysGluThrLeuValAsnArgAspArgGluIleAsnSerLeuArgArgGlnLeuAspAlaAlaHisLysGluLeuAspGluValGlyArgSerArgGluIleAlaPheLysGluAsnArgArgLeuGlnAspAspLeuAlaThrMetAlaArgGluAsnGlnGluIleSerLeuGluLeuGluAlaAlaValGlnGluLysGluGluMetLysSerArgValHisLysTyrIleThrGluValSerArgTrpGluSerLeuMetAlaAlaLysGluLysGluAsnGlnAspLeuLeuAspArgPheGlnMetLeuHisAsnArgAlaGluAspTrpGluValLysAlaHisGlnAlaGluGlyGluSerSerSerValArgLeuGluLeuLeuSerIleAspThrGluArgArgHisLeuArgGluArgValGluLeuLeuGluLysGluIleGlnGluHisIleAsnAlaHisHisAlaTyrGluSerGlnIleSerSerMetAlaLysAlaMetSerArgLeuGluGluGluLeuArgHisGlnGluAspGluLysAlaThrValLeuAsnAspLeuSerSerLeuArgGluLeuCysIleLysLeuAspSerGlyLysAspIleMetThrGlnGlnLeuAsnSerLysAsnLeuGluPheGluArgValValValGluLeuGluAsnValLysSerGluSerAspLeuLeuLysLysGlnLeuSerAsnGluArgHisThrValLysAsnLeuGluSerLeuLeuAlaThrAsnArgAspLysGluPheHisSerHisLeuThrSerHisGluLysAspThrGluIleGlnLeuLeuLysGluLysLeuThrLeuSerGluSerLysLeuThrSerGlnSerArgGluAsnThrMetLeuArgAlaLysValAlaGlnLeuGlnThrAspTyrAspAlaLeuLysArgGlnIleSerThrGluArgTyrGluArgGluArgAlaIleGlnGluMetArgArgHisGlyLeuAlaThrProProLeuSerSerThrLeuArgSerProSerHisSerProGluHisArgAsnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257287.5:c.874C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025009.5:c.874C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257287.3:p.Arg292Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079285.2:p.Arg292Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}