{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA294200728",
  "communityStandardTitle": [
    "NM_001077620.3(PRCD):c.102_111del (p.Arg35AlafsTer16)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1444587[alleleid]",
        "alleleId": 1444587,
        "preferredName": "NM_001077620.3(PRCD):c.102_111del (p.Arg35fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1427185",
        "RCV": [
          "RCV001933580"
        ],
        "variationId": 1427185
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.74536606_74536615del?assembly=hg19",
        "id": "chr17:g.74536606_74536615del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.76540524_76540533del?assembly=hg38",
        "id": "chr17:g.76540524_76540533del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1009828411",
        "rs": 1009828411
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-74536605-TGGGGCAGCTA-T?dataset=gnomad_r2_1",
        "id": "17-74536605-TGGGGCAGCTA-T",
        "variant": "17:74536605 TGGGGCAGCTA / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-76540523-TGGGGCAGCTA-T?dataset=gnomad_r4",
        "id": "17-76540523-TGGGGCAGCTA-T",
        "variant": "17:76540523 TGGGGCAGCTA / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 76540541,
          "referenceAllele": "TAGGGGCAGC",
          "start": 76540531
        }
      ],
      "hgvs": [
        "NC_000017.11:g.76540532_76540541del",
        "CM000679.2:g.76540532_76540541del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 74536623,
          "referenceAllele": "TAGGGGCAGC",
          "start": 74536613
        }
      ],
      "hgvs": [
        "NC_000017.10:g.74536614_74536623del",
        "CM000679.1:g.74536614_74536623del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 72048218,
          "referenceAllele": "TAGGGGCAGC",
          "start": 72048208
        }
      ],
      "hgvs": [
        "NC_000017.9:g.72048209_72048218del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 17956,
          "referenceAllele": "TAGGGGCAGC",
          "start": 17946
        }
      ],
      "hgvs": [
        "NG_016702.1:g.17947_17956del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003251"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 209,
          "referenceAllele": "TAGGGGCAGC",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032528",
      "geneNCBI_id": 768206,
      "geneSymbol": "PRCD",
      "hgvs": [
        "ENST00000592014.6:c.102_111del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467661.1:p.Arg35AlafsTer16",
        "hgvsWellDefined": "ENSP00000467661.1:p.[Arg35_Asp42delinsAlaTrpMetArgThrLeuSer;Ser45_Ser46delinsAla;Glu49del;Glu51_Pro52delinsAsn;Lys54Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761264",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000592014.6:c.102_111del"
          },
          "RefSeq": {
            "hgvs": "NM_001077620.3:c.102_111del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467661.1:p.Arg35AlafsTer16"
          },
          "RefSeq": {
            "hgvs": "NP_001071088.1:p.Arg35AlafsTer16"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 71,
          "referenceAllele": "TAGGGGCAGC",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032528",
      "geneNCBI_id": 768206,
      "geneSymbol": "PRCD",
      "hgvs": [
        "ENST00000397630.7:n.62_71del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS277903"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 82,
          "referenceAllele": "TAGGGGCAGC",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032528",
      "geneNCBI_id": 768206,
      "geneSymbol": "PRCD",
      "hgvs": [
        "ENST00000397633.7:n.73_82del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS277906"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 129,
          "referenceAllele": "TAGGGGCAGC",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032528",
      "geneNCBI_id": 768206,
      "geneSymbol": "PRCD",
      "hgvs": [
        "ENST00000465808.7:n.120_129del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309331"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 163,
          "referenceAllele": "TAGGGGCAGC",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032528",
      "geneNCBI_id": 768206,
      "geneSymbol": "PRCD",
      "hgvs": [
        "ENST00000586148.1:c.102_111del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465932.1:p.Arg35AlafsTer16",
        "hgvsWellDefined": "ENSP00000465932.1:p.[Arg35_Asp42delinsAlaTrpMetArgThrLeuSer;Ser45_Ser46delinsAla;Glu49del;Glu51_Pro52delinsAsn;Lys54Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389202"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 314,
          "endIntronDirection": "-",
          "endIntronOffset": 8832,
          "referenceAllele": "CCTAGCTGCC",
          "start": 314,
          "startIntronDirection": "-",
          "startIntronOffset": 8842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016505",
      "geneNCBI_id": 114757,
      "geneSymbol": "CYGB",
      "hgvs": [
        "ENST00000589145.1:c.-52-8842_-52-8833del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468559.1:n.-52-8842_-52-8833del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391278"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 481,
          "referenceAllele": "TAGGGGCAGC",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032528",
      "geneNCBI_id": 768206,
      "geneSymbol": "PRCD",
      "hgvs": [
        "ENST00000590555.5:n.472_481del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392267"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 220,
          "referenceAllele": "TAGGGGCAGC",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032528",
      "geneNCBI_id": 768206,
      "geneSymbol": "PRCD",
      "hgvs": [
        "ENST00000592014.5:c.102_111del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467661.1:p.Arg35AlafsTer16",
        "hgvsWellDefined": "ENSP00000467661.1:p.[Arg35_Asp42delinsAlaTrpMetArgThrLeuSer;Ser45_Ser46delinsAla;Glu49del;Glu51_Pro52delinsAsn;Lys54Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393275"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 285,
          "referenceAllele": "TAGGGGCAGC",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032528",
      "geneNCBI_id": 768206,
      "geneSymbol": "PRCD",
      "hgvs": [
        "ENST00000592432.5:n.276_285del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393559"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 214,
          "referenceAllele": "TAGGGGCAGC",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032528",
      "geneNCBI_id": 768206,
      "geneSymbol": "PRCD",
      "hgvs": [
        "NM_001077620.2:c.102_111del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001071088.1:p.Arg35AlafsTer16",
        "hgvsWellDefined": "NP_001071088.1:p.[Arg35_Asp42delinsAlaTrpMetArgThrLeuSer;Ser45_Ser46delinsAla;Glu49del;Glu51_Pro52delinsAsn;Lys54Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010019"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 285,
          "referenceAllele": "TAGGGGCAGC",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032528",
      "geneNCBI_id": 768206,
      "geneSymbol": "PRCD",
      "hgvs": [
        "NR_033357.1:n.276_285del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS048979"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 728,
          "endIntronDirection": "-",
          "endIntronOffset": 8832,
          "referenceAllele": "CCTAGCTGCC",
          "start": 728,
          "startIntronDirection": "-",
          "startIntronOffset": 8842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016505",
      "geneNCBI_id": 114757,
      "geneSymbol": "CYGB",
      "hgvs": [
        "XM_011524272.1:c.-52-8842_-52-8833del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522574.1:n.-52-8842_-52-8833del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091400"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 773,
          "referenceAllele": "TAGGGGCAGC",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032528",
      "geneNCBI_id": 768206,
      "geneSymbol": "PRCD",
      "hgvs": [
        "XM_011525184.1:c.225_234del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523486.1:p.Arg76AlafsTer16",
        "hgvsWellDefined": "XP_011523486.1:p.[Arg76_Asp83delinsAlaTrpMetArgThrLeuSer;Ser86_Ser87delinsAla;Glu90del;Glu92_Pro93delinsAsn;Lys95Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092303"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 371,
          "endIntronDirection": "-",
          "endIntronOffset": 8832,
          "referenceAllele": "CCTAGCTGCC",
          "start": 371,
          "startIntronDirection": "-",
          "startIntronOffset": 8842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016505",
      "geneNCBI_id": 114757,
      "geneSymbol": "CYGB",
      "hgvs": [
        "XM_017024116.1:c.-52-8842_-52-8833del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879605.1:n.-52-8842_-52-8833del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574743"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2232,
          "referenceAllele": "TAGGGGCAGC",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032528",
      "geneNCBI_id": 768206,
      "geneSymbol": "PRCD",
      "hgvs": [
        "XM_017025013.1:c.102_111del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880502.1:p.Arg35AlafsTer16",
        "hgvsWellDefined": "XP_016880502.1:p.[Arg35_Asp42delinsAlaTrpMetArgThrLeuSer;Ser45_Ser46delinsAla;Glu49del;Glu51_Pro52delinsAsn;Lys54Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575440"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2232,
          "referenceAllele": "TAGGGGCAGC",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032528",
      "geneNCBI_id": 768206,
      "geneSymbol": "PRCD",
      "hgvs": [
        "XM_017025014.1:c.102_111del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880503.1:p.Arg35AlafsTer16",
        "hgvsWellDefined": "XP_016880503.1:p.[Arg35_Asp42delinsAlaTrpMetArgThrLeuSer;Ser45_Ser46delinsAla;Glu49del;Glu51_Pro52delinsAsn;Lys54Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575441"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2232,
          "referenceAllele": "TAGGGGCAGC",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032528",
      "geneNCBI_id": 768206,
      "geneSymbol": "PRCD",
      "hgvs": [
        "XM_017025015.1:c.102_111del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880504.1:p.Arg35AlafsTer16",
        "hgvsWellDefined": "XP_016880504.1:p.[Arg35_Asp42delinsAlaTrpMetArgThrLeuSer;Ser45_Ser46delinsAla;Glu49del;Glu51_Pro52delinsAsn;Lys54Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575442"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 209,
          "referenceAllele": "TAGGGGCAGC",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032528",
      "geneNCBI_id": 768206,
      "geneSymbol": "PRCD",
      "hgvs": [
        "NM_001077620.3:c.102_111del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001071088.1:p.Arg35AlafsTer16",
        "hgvsWellDefined": "NP_001071088.1:p.[Arg35_Asp42delinsAlaTrpMetArgThrLeuSer;Ser45_Ser46delinsAla;Glu49del;Glu51_Pro52delinsAsn;Lys54Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663251",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000592014.6:c.102_111del"
          },
          "RefSeq": {
            "hgvs": "NM_001077620.3:c.102_111del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467661.1:p.Arg35AlafsTer16"
          },
          "RefSeq": {
            "hgvs": "NP_001071088.1:p.Arg35AlafsTer16"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 285,
          "referenceAllele": "TAGGGGCAGC",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032528",
      "geneNCBI_id": 768206,
      "geneSymbol": "PRCD",
      "hgvs": [
        "NR_033357.2:n.276_285del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730288"
    }
  ],
  "type": "nucleotide"
}