{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3267343378",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.527_692dup (p.Gln232SerfsTer23)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "AACGTCTTCCAGCTGGGGAATGTTATCTTCATGGAAGCCACAGTACTTTTCAAGAAGTGGAAAAATGTGATTGTACTCATAGCAAGCATGGGTTTTATACAAGGACTTCAGAGTCTTGAACACTGTGCCCCATGTTTTCTTTTCTTCCTCCATGTATTCCACTCGA",
          "end": 102855317,
          "referenceAllele": "",
          "start": 102855317
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102855152_102855317dup",
        "CM000674.2:g.102855152_102855317dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "AACGTCTTCCAGCTGGGGAATGTTATCTTCATGGAAGCCACAGTACTTTTCAAGAAGTGGAAAAATGTGATTGTACTCATAGCAAGCATGGGTTTTATACAAGGACTTCAGAGTCTTGAACACTGTGCCCCATGTTTTCTTTTCTTCCTCCATGTATTCCACTCGA",
          "end": 103249095,
          "referenceAllele": "",
          "start": 103249095
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103248930_103249095dup",
        "CM000674.1:g.103248930_103249095dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "AACGTCTTCCAGCTGGGGAATGTTATCTTCATGGAAGCCACAGTACTTTTCAAGAAGTGGAAAAATGTGATTGTACTCATAGCAAGCATGGGTTTTATACAAGGACTTCAGAGTCTTGAACACTGTGCCCCATGTTTTCTTTTCTTCCTCCATGTATTCCACTCGA",
          "end": 101773225,
          "referenceAllele": "",
          "start": 101773225
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101773060_101773225dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "GTGGAATACATGGAGGAAGAAAAGAAAACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCGA",
          "end": 67453,
          "referenceAllele": "",
          "start": 67453
        }
      ],
      "hgvs": [
        "NG_008690.1:g.67288_67453dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "GTGGAATACATGGAGGAAGAAAAGAAAACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCGA",
          "end": 108261,
          "referenceAllele": "",
          "start": 108261
        }
      ],
      "hgvs": [
        "NG_008690.2:g.108096_108261dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GTGGAATACATGGAGGAAGAAAAGAAAACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCGA",
          "end": 806,
          "referenceAllele": "",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.527_692dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Gln232SerfsTer23",
        "hgvsWellDefined": "ENSP00000448059.1:p.[Gln232_Thr238delinsSerGlyIleHisGly;Phe240del;Leu242_Ala246delinsLysGluAsnMet;Leu248_Leu249delinsHis;Ser251_Arg252delinsValGln;Phe254_Gly257delinsSerGluVal;Ala259_Phe260delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.527_692dup"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.527_692dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Gln232SerfsTer23"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Gln232SerfsTer23"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GTGGAATACATGGAGGAAGAAAAGAAAACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCGA",
          "end": 948,
          "referenceAllele": "",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.512_677dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Gln227SerfsTer23",
        "hgvsWellDefined": "ENSP00000303500.2:p.[Gln227_Thr233delinsSerGlyIleHisGly;Phe235del;Leu237_Ala241delinsLysGluAsnMet;Leu243_Leu244delinsHis;Ser246_Arg247delinsValGln;Phe249_Gly252delinsSerGluVal;Ala254_Phe255delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "GTGGAATACATGGAGGAAGAAAAGAAAACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCGA",
          "end": 788,
          "referenceAllele": "",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.623_788dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "GTGGAATACATGGAGGAAGAAAAGAAAACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCGA",
          "end": 1165,
          "referenceAllele": "",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.527_692dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Gln232SerfsTer23",
        "hgvsWellDefined": "ENSP00000448059.1:p.[Gln232_Thr238delinsSerGlyIleHisGly;Phe240del;Leu242_Ala246delinsLysGluAsnMet;Leu248_Leu249delinsHis;Ser251_Arg252delinsValGln;Phe254_Gly257delinsSerGluVal;Ala259_Phe260delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "GTGGAATACATGGAGGAAGAAAAGAAAACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCGA",
          "end": 1164,
          "referenceAllele": "",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.527_692dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gln232SerfsTer23",
        "hgvsWellDefined": "NP_000268.1:p.[Gln232_Thr238delinsSerGlyIleHisGly;Phe240del;Leu242_Ala246delinsLysGluAsnMet;Leu248_Leu249delinsHis;Ser251_Arg252delinsValGln;Phe254_Gly257delinsSerGluVal;Ala259_Phe260delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "GTGGAATACATGGAGGAAGAAAAGAAAACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCGA",
          "end": 807,
          "referenceAllele": "",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.527_692dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Gln232SerfsTer23",
        "hgvsWellDefined": "XP_011536724.1:p.[Gln232_Thr238delinsSerGlyIleHisGly;Phe240del;Leu242_Ala246delinsLysGluAsnMet;Leu248_Leu249delinsHis;Ser251_Arg252delinsValGln;Phe254_Gly257delinsSerGluVal;Ala259_Phe260delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "coordinates": [
        {
          "allele": "GTGGAATACATGGAGGAAGAAAAGAAAACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCGA",
          "end": 1165,
          "referenceAllele": "",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.527_692dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gln232SerfsTer23",
        "hgvsWellDefined": "NP_000268.1:p.[Gln232_Thr238delinsSerGlyIleHisGly;Phe240del;Leu242_Ala246delinsLysGluAsnMet;Leu248_Leu249delinsHis;Ser251_Arg252delinsValGln;Phe254_Gly257delinsSerGluVal;Ala259_Phe260delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "GTGGAATACATGGAGGAAGAAAAGAAAACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCGA",
          "end": 1003,
          "referenceAllele": "",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.527_692dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gln232SerfsTer23",
        "hgvsWellDefined": "NP_001341233.1:p.[Gln232_Thr238delinsSerGlyIleHisGly;Phe240del;Leu242_Ala246delinsLysGluAsnMet;Leu248_Leu249delinsHis;Ser251_Arg252delinsValGln;Phe254_Gly257delinsSerGluVal;Ala259_Phe260delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "GTGGAATACATGGAGGAAGAAAAGAAAACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCGA",
          "end": 806,
          "referenceAllele": "",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.527_692dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:p.Gln232SerfsTer23",
        "hgvsWellDefined": "XP_016874859.1:p.[Gln232_Leu234delinsSerGlyIleHisGlyGlyArgLysGluAsnMetGlyHisSerVal;Ile236_Ala238delinsAspSerGlu;Leu240_Ter241insVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "coordinates": [
        {
          "allele": "GTGGAATACATGGAGGAAGAAAAGAAAACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCGA",
          "end": 806,
          "referenceAllele": "",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.527_692dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gln232SerfsTer23",
        "hgvsWellDefined": "NP_000268.1:p.[Gln232_Thr238delinsSerGlyIleHisGly;Phe240del;Leu242_Ala246delinsLysGluAsnMet;Leu248_Leu249delinsHis;Ser251_Arg252delinsValGln;Phe254_Gly257delinsSerGluVal;Ala259_Phe260delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.527_692dup"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.527_692dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Gln232SerfsTer23"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Gln232SerfsTer23"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GTGGAATACATGGAGGAAGAAAAGAAAACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCGA",
          "end": 1034,
          "referenceAllele": "",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.527_692dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gln232SerfsTer23",
        "hgvsWellDefined": "NP_001341233.1:p.[Gln232_Thr238delinsSerGlyIleHisGly;Phe240del;Leu242_Ala246delinsLysGluAsnMet;Leu248_Leu249delinsHis;Ser251_Arg252delinsValGln;Phe254_Gly257delinsSerGluVal;Ala259_Phe260delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}