{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5539138",
  "communityStandardTitle": [
    "NM_001083116.3(PRF1):c.65del (p.Pro22ArgfsTer29)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2416517[alleleid]",
        "alleleId": 2416517,
        "preferredName": "NM_001083116.3(PRF1):c.65del (p.Pro22fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2442794",
        "RCV": [
          "RCV003150600",
          "RCV003459788"
        ],
        "variationId": 2442794
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-72360593-CG-C",
        "id": "10-72360593-CG-C",
        "variant": "10:72360593 CG / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.72360594del?assembly=hg19",
        "id": "chr10:g.72360594del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.70600838del?assembly=hg38",
        "id": "chr10:g.70600838del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/761651233",
        "rs": 761651233
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-72360593-CG-C?dataset=gnomad_r2_1",
        "id": "10-72360593-CG-C",
        "variant": "10:72360593 CG / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-70600837-CG-C?dataset=gnomad_r4",
        "id": "10-70600837-CG-C",
        "variant": "10:70600837 CG / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "",
          "end": 70600841,
          "referenceAllele": "G",
          "start": 70600840
        }
      ],
      "hgvs": [
        "NC_000010.11:g.70600841del",
        "CM000672.2:g.70600841del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "",
          "end": 72360597,
          "referenceAllele": "G",
          "start": 72360596
        }
      ],
      "hgvs": [
        "NC_000010.10:g.72360597del",
        "CM000672.1:g.72360597del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "",
          "end": 72030603,
          "referenceAllele": "G",
          "start": 72030602
        }
      ],
      "hgvs": [
        "NC_000010.9:g.72030603del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6938,
          "referenceAllele": "C",
          "start": 6937
        }
      ],
      "hgvs": [
        "NG_009615.1:g.6938del",
        "LRG_94:g.6938del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2919,
          "endIntronDirection": "+",
          "endIntronOffset": 1757,
          "referenceAllele": "G",
          "start": 2919,
          "startIntronDirection": "+",
          "startIntronOffset": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697571.1:c.*17+1757del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513342.1:n.*17+1757del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908823"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2554,
          "endIntronDirection": "+",
          "endIntronOffset": 36322,
          "referenceAllele": "G",
          "start": 2554,
          "startIntronDirection": "+",
          "startIntronOffset": 36321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697572.1:c.2250+36322del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513343.1:n.2250+36322del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908824"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2763,
          "endIntronDirection": "+",
          "endIntronOffset": 1757,
          "referenceAllele": "G",
          "start": 2763,
          "startIntronDirection": "+",
          "startIntronOffset": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697573.1:c.*17+1757del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513344.1:n.*17+1757del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908825"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2919,
          "endIntronDirection": "+",
          "endIntronOffset": 1757,
          "referenceAllele": "G",
          "start": 2919,
          "startIntronDirection": "+",
          "startIntronOffset": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697577.1:n.2919+1757del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908829"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2763,
          "endIntronDirection": "+",
          "endIntronOffset": 1757,
          "referenceAllele": "G",
          "start": 2763,
          "startIntronDirection": "+",
          "startIntronOffset": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697578.1:n.2763+1757del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908830"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 192,
          "referenceAllele": "C",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000441259.2:c.65del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398568.1:p.Pro22ArgfsTer29",
        "hgvsWellDefined": "ENSP00000398568.1:p.[Pro22_Ala26delinsArgAlaThrGlnProHis;Arg28Gln;Glu30_Arg33delinsAlaSerAlaAlaThr;His35_Phe37delinsSerCysLeu;Pro39His;Ala41del;Leu43_Ala44delinsPro;Glu46_Gly47delinsArg;Asp49_Val50delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000441259.2:c.65del"
          },
          "RefSeq": {
            "hgvs": "NM_001083116.3:c.65del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000398568.1:p.Pro22ArgfsTer29"
          },
          "RefSeq": {
            "hgvs": "NP_001076585.1:p.Pro22ArgfsTer29"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 112,
          "referenceAllele": "C",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000638674.1:c.65del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492048.1:p.Pro22ArgfsTer29",
        "hgvsWellDefined": "ENSP00000492048.1:p.[Pro22_Ala26delinsArgAlaThrGlnProHis;Arg28Gln;Glu30_Arg33delinsAlaSerAlaAlaThr;His35_Phe37delinsSerCysLeu;Pro39His;Ala41del;Leu43_Ala44delinsPro;Glu46_Gly47delinsArg;Asp49_Val50delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764645"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 97,
          "endIntronDirection": "+",
          "endIntronOffset": 1807,
          "referenceAllele": "C",
          "start": 97,
          "startIntronDirection": "+",
          "startIntronOffset": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000639390.1:n.97+1807del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000373209.2:c.65del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362305.1:p.Pro22ArgfsTer29",
        "hgvsWellDefined": "ENSP00000362305.1:p.[Pro22_Ala26delinsArgAlaThrGlnProHis;Arg28Gln;Glu30_Arg33delinsAlaSerAlaAlaThr;His35_Phe37delinsSerCysLeu;Pro39His;Ala41del;Leu43_Ala44delinsPro;Glu46_Gly47delinsArg;Asp49_Val50delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269565"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 226,
          "referenceAllele": "C",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000441259.1:c.65del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398568.1:p.Pro22ArgfsTer29",
        "hgvsWellDefined": "ENSP00000398568.1:p.[Pro22_Ala26delinsArgAlaThrGlnProHis;Arg28Gln;Glu30_Arg33delinsAlaSerAlaAlaThr;His35_Phe37delinsSerCysLeu;Pro39His;Ala41del;Leu43_Ala44delinsPro;Glu46_Gly47delinsArg;Asp49_Val50delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296306"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 226,
          "referenceAllele": "C",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_001083116.1:c.65del",
        "LRG_94t1:c.65del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001076585.1:p.Pro22ArgfsTer29",
        "hgvsWellDefined": "NP_001076585.1:p.[Pro22_Ala26delinsArgAlaThrGlnProHis;Arg28Gln;Glu30_Arg33delinsAlaSerAlaAlaThr;His35_Phe37delinsSerCysLeu;Pro39His;Ala41del;Leu43_Ala44delinsPro;Glu46_Gly47delinsArg;Asp49_Val50delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010383"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 200,
          "referenceAllele": "C",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_005041.4:c.65del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005032.2:p.Pro22ArgfsTer29",
        "hgvsWellDefined": "NP_005032.2:p.[Pro22_Ala26delinsArgAlaThrGlnProHis;Arg28Gln;Glu30_Arg33delinsAlaSerAlaAlaThr;His35_Phe37delinsSerCysLeu;Pro39His;Ala41del;Leu43_Ala44delinsPro;Glu46_Gly47delinsArg;Asp49_Val50delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030172"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 239,
          "referenceAllele": "C",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_001083116.2:c.65del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001076585.1:p.Pro22ArgfsTer29",
        "hgvsWellDefined": "NP_001076585.1:p.[Pro22_Ala26delinsArgAlaThrGlnProHis;Arg28Gln;Glu30_Arg33delinsAlaSerAlaAlaThr;His35_Phe37delinsSerCysLeu;Pro39His;Ala41del;Leu43_Ala44delinsPro;Glu46_Gly47delinsArg;Asp49_Val50delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511265"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_005041.5:c.65del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005032.2:p.Pro22ArgfsTer29",
        "hgvsWellDefined": "NP_005032.2:p.[Pro22_Ala26delinsArgAlaThrGlnProHis;Arg28Gln;Glu30_Arg33delinsAlaSerAlaAlaThr;His35_Phe37delinsSerCysLeu;Pro39His;Ala41del;Leu43_Ala44delinsPro;Glu46_Gly47delinsArg;Asp49_Val50delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525277"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 192,
          "referenceAllele": "C",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_001083116.3:c.65del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001076585.1:p.Pro22ArgfsTer29",
        "hgvsWellDefined": "NP_001076585.1:p.[Pro22_Ala26delinsArgAlaThrGlnProHis;Arg28Gln;Glu30_Arg33delinsAlaSerAlaAlaThr;His35_Phe37delinsSerCysLeu;Pro39His;Ala41del;Leu43_Ala44delinsPro;Glu46_Gly47delinsArg;Asp49_Val50delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663333",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000441259.2:c.65del"
          },
          "RefSeq": {
            "hgvs": "NM_001083116.3:c.65del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000398568.1:p.Pro22ArgfsTer29"
          },
          "RefSeq": {
            "hgvs": "NP_001076585.1:p.Pro22ArgfsTer29"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 166,
          "referenceAllele": "C",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_005041.6:c.65del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005032.2:p.Pro22ArgfsTer29",
        "hgvsWellDefined": "NP_005032.2:p.[Pro22_Ala26delinsArgAlaThrGlnProHis;Arg28Gln;Glu30_Arg33delinsAlaSerAlaAlaThr;His35_Phe37delinsSerCysLeu;Pro39His;Ala41del;Leu43_Ala44delinsPro;Glu46_Gly47delinsArg;Asp49_Val50delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727576"
    }
  ],
  "type": "nucleotide"
}