{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2953903096",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.694_696delinsTAA (p.Gln232Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3541311[alleleid]",
        "alleleId": 3541311,
        "preferredName": "NM_000277.3(PAH):c.694_696delinsTAA (p.Gln232Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3382131",
        "RCV": [
          "RCV004797182"
        ],
        "variationId": 3382131
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "TTA",
          "end": 102855148,
          "referenceAllele": "CTG",
          "start": 102855145
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102855146_102855148delinsTTA",
        "CM000674.2:g.102855146_102855148delinsTTA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "TTA",
          "end": 103248926,
          "referenceAllele": "CTG",
          "start": 103248923
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103248924_103248926delinsTTA",
        "CM000674.1:g.103248924_103248926delinsTTA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "TTA",
          "end": 101773056,
          "referenceAllele": "CTG",
          "start": 101773053
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101773054_101773056delinsTTA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 108265,
          "referenceAllele": "CAG",
          "start": 108262
        }
      ],
      "hgvs": [
        "NG_008690.2:g.108263_108265delinsTAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 810,
          "referenceAllele": "CAG",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.694_696delinsTAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Gln232Ter",
        "hgvsWellDefined": "ENSP00000448059.1:p.Gln232_Lys452delinsPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.694_696delinsTAA"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.694_696delinsTAA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Gln232Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Gln232Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 952,
          "referenceAllele": "CAG",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.679_681delinsTAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Gln227Ter",
        "hgvsWellDefined": "ENSP00000303500.2:p.Gln227_Lys447delinsPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 792,
          "referenceAllele": "CAG",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.790_792delinsTAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 1169,
          "referenceAllele": "CAG",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.694_696delinsTAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Gln232Ter",
        "hgvsWellDefined": "ENSP00000448059.1:p.Gln232_Lys452delinsPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 811,
          "referenceAllele": "CAG",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.694_696delinsTAA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Gln232Ter",
        "hgvsWellDefined": "XP_011536724.1:p.Gln232_Lys433delinsPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA229697",
      "coordinates": [
        {
          "allele": "TAA",
          "end": 1169,
          "referenceAllele": "CAG",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.694_696delinsTAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gln232Ter",
        "hgvsWellDefined": "NP_000268.1:p.Gln232_Lys452delinsPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037564",
      "coordinates": [
        {
          "allele": "TAA",
          "end": 1007,
          "referenceAllele": "CAG",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.694_696delinsTAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gln232Ter",
        "hgvsWellDefined": "NP_001341233.1:p.Gln232_Lys452delinsPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 810,
          "referenceAllele": "CAG",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.694_696delinsTAA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:p.Gln232Ter",
        "hgvsWellDefined": "XP_016874859.1:p.Gln232_Leu240delinsPheLeuGlnIleProAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA229697",
      "coordinates": [
        {
          "allele": "TAA",
          "end": 810,
          "referenceAllele": "CAG",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.694_696delinsTAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gln232Ter",
        "hgvsWellDefined": "NP_000268.1:p.Gln232_Lys452delinsPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.694_696delinsTAA"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.694_696delinsTAA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Gln232Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Gln232Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037564",
      "coordinates": [
        {
          "allele": "TAA",
          "end": 1038,
          "referenceAllele": "CAG",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.694_696delinsTAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gln232Ter",
        "hgvsWellDefined": "NP_001341233.1:p.Gln232_Lys452delinsPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}