{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2695217252",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.506del (p.Arg169ProfsTer26)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 102866599,
          "referenceAllele": "C",
          "start": 102866598
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102866599del",
        "CM000674.2:g.102866599del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 103260377,
          "referenceAllele": "C",
          "start": 103260376
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103260377del",
        "CM000674.1:g.103260377del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 101784507,
          "referenceAllele": "C",
          "start": 101784506
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101784507del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 56004,
          "referenceAllele": "G",
          "start": 56003
        }
      ],
      "hgvs": [
        "NG_008690.1:g.56004del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 96812,
          "referenceAllele": "G",
          "start": 96811
        }
      ],
      "hgvs": [
        "NG_008690.2:g.96812del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.506del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Arg169ProfsTer26",
        "hgvsWellDefined": "ENSP00000448059.1:p.[Arg169_His170delinsProMet;Gln172Ser;Ile174_Val177delinsSerLeu;Tyr179_Glu183delinsTrpAsnThrTrpArg;Thr186_Ser196delinsArgLysHisGlyAlaGlnCysSerArg;Tyr198del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.506del"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.506del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Arg169ProfsTer26"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Arg169ProfsTer26"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.491del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Arg164ProfsTer26",
        "hgvsWellDefined": "ENSP00000303500.2:p.[Arg164_His165delinsProMet;Gln167Ser;Ile169_Val172delinsSerLeu;Tyr174_Glu178delinsTrpAsnThrTrpArg;Thr181_Ser191delinsArgLysHisGlyAlaGlnCysSerArg;Tyr193del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 602,
          "referenceAllele": "G",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.602del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 530,
          "endIntronDirection": "+",
          "endIntronOffset": 10863,
          "referenceAllele": "G",
          "start": 530,
          "startIntronDirection": "+",
          "startIntronOffset": 10862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551988.5:n.530+10863del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368983"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 979,
          "referenceAllele": "G",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.506del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Arg169ProfsTer26",
        "hgvsWellDefined": "ENSP00000448059.1:p.[Arg169_His170delinsProMet;Gln172Ser;Ile174_Val177delinsSerLeu;Tyr179_Glu183delinsTrpAsnThrTrpArg;Thr186_Ser196delinsArgLysHisGlyAlaGlnCysSerArg;Tyr198del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 978,
          "referenceAllele": "G",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.506del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Arg169ProfsTer26",
        "hgvsWellDefined": "NP_000268.1:p.[Arg169_His170delinsProMet;Gln172Ser;Ile174_Val177delinsSerLeu;Tyr179_Glu183delinsTrpAsnThrTrpArg;Thr186_Ser196delinsArgLysHisGlyAlaGlnCysSerArg;Tyr198del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 621,
          "referenceAllele": "G",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.506del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Arg169ProfsTer26",
        "hgvsWellDefined": "XP_011536724.1:p.[Arg169_His170delinsProMet;Gln172Ser;Ile174_Val177delinsSerLeu;Tyr179_Glu183delinsTrpAsnThrTrpArg;Thr186_Ser196delinsArgLysHisGlyAlaGlnCysSerArg;Tyr198del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 979,
          "referenceAllele": "G",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.506del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Arg169ProfsTer26",
        "hgvsWellDefined": "NP_000268.1:p.[Arg169_His170delinsProMet;Gln172Ser;Ile174_Val177delinsSerLeu;Tyr179_Glu183delinsTrpAsnThrTrpArg;Thr186_Ser196delinsArgLysHisGlyAlaGlnCysSerArg;Tyr198del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 817,
          "referenceAllele": "G",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.506del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Arg169ProfsTer26",
        "hgvsWellDefined": "NP_001341233.1:p.[Arg169_His170delinsProMet;Gln172Ser;Ile174_Val177delinsSerLeu;Tyr179_Glu183delinsTrpAsnThrTrpArg;Thr186_Ser196delinsArgLysHisGlyAlaGlnCysSerArg;Tyr198del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.506del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:p.Arg169ProfsTer26",
        "hgvsWellDefined": "XP_016874859.1:p.[Arg169_His170delinsProMet;Gln172Ser;Ile174_Val177delinsSerLeu;Tyr179_Glu183delinsTrpAsnThrTrpArg;Thr186_Ser196delinsArgLysHisGlyAlaGlnCysSerArg;Tyr198del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.506del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Arg169ProfsTer26",
        "hgvsWellDefined": "NP_000268.1:p.[Arg169_His170delinsProMet;Gln172Ser;Ile174_Val177delinsSerLeu;Tyr179_Glu183delinsTrpAsnThrTrpArg;Thr186_Ser196delinsArgLysHisGlyAlaGlnCysSerArg;Tyr198del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.506del"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.506del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Arg169ProfsTer26"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Arg169ProfsTer26"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 848,
          "referenceAllele": "G",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.506del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Arg169ProfsTer26",
        "hgvsWellDefined": "NP_001341233.1:p.[Arg169_His170delinsProMet;Gln172Ser;Ile174_Val177delinsSerLeu;Tyr179_Glu183delinsTrpAsnThrTrpArg;Thr186_Ser196delinsArgLysHisGlyAlaGlnCysSerArg;Tyr198del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}