{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA229368",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.1166del (p.Ala389GlufsTer11)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=108279[alleleid]",
        "alleleId": 108279,
        "preferredName": "NM_000277.3(PAH):c.1166del (p.Ala389fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/102543",
        "RCV": [
          "RCV000088777",
          "RCV000669467"
        ],
        "variationId": 102543
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103237457del?assembly=hg19",
        "id": "chr12:g.103237457del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103237457delG?assembly=hg19",
        "id": "chr12:g.103237457delG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102843679del?assembly=hg38",
        "id": "chr12:g.102843679del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62506949",
        "rs": 62506949
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 102843679,
          "referenceAllele": "G",
          "start": 102843678
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102843679del",
        "CM000674.2:g.102843679del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 103237457,
          "referenceAllele": "G",
          "start": 103237456
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103237457del",
        "CM000674.1:g.103237457del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 101761587,
          "referenceAllele": "G",
          "start": 101761586
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101761587del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 78924,
          "referenceAllele": "C",
          "start": 78923
        }
      ],
      "hgvs": [
        "NG_008690.1:g.78924del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 119732,
          "referenceAllele": "C",
          "start": 119731
        }
      ],
      "hgvs": [
        "NG_008690.2:g.119732del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1280,
          "referenceAllele": "C",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.1166del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Ala389GlufsTer11",
        "hgvsWellDefined": "ENSP00000448059.1:p.[Ala389del;Ser391_Lys398delinsArg;Arg400_Ile406delinsLeuMetMet;Pro409_Val412del;Tyr414_Thr418delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1166del"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1166del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Ala389GlufsTer11"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Ala389GlufsTer11"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.1151del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Ala384GlufsTer11",
        "hgvsWellDefined": "ENSP00000303500.2:p.[Ala384del;Ser386_Lys393delinsArg;Arg395_Ile401delinsLeuMetMet;Pro404_Val407del;Tyr409_Thr413delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 925,
          "referenceAllele": "C",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.925del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 828,
          "referenceAllele": "C",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.828del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1639,
          "referenceAllele": "C",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.1166del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Ala389GlufsTer11",
        "hgvsWellDefined": "ENSP00000448059.1:p.[Ala389del;Ser391_Lys398delinsArg;Arg400_Ile406delinsLeuMetMet;Pro409_Val412del;Tyr414_Thr418delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 270,
          "referenceAllele": "C",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.270del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635528.1:n.681del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408159"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1638,
          "referenceAllele": "C",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.1166del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ala389GlufsTer11",
        "hgvsWellDefined": "NP_000268.1:p.[Ala389del;Ser391_Lys398delinsArg;Arg400_Ile406delinsLeuMetMet;Pro409_Val412del;Tyr414_Thr418delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1224,
          "referenceAllele": "C",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.1109del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Ala370GlufsTer11",
        "hgvsWellDefined": "XP_011536724.1:p.[Ala370del;Ser372_Lys379delinsArg;Arg381_Ile387delinsLeuMetMet;Pro390_Val393del;Tyr395_Thr399delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1639,
          "referenceAllele": "C",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.1166del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ala389GlufsTer11",
        "hgvsWellDefined": "NP_000268.1:p.[Ala389del;Ser391_Lys398delinsArg;Arg400_Ile406delinsLeuMetMet;Pro409_Val412del;Tyr414_Thr418delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.1166del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Ala389GlufsTer11",
        "hgvsWellDefined": "NP_001341233.1:p.[Ala389del;Ser391_Lys398delinsArg;Arg400_Ile406delinsLeuMetMet;Pro409_Val412del;Tyr414_Thr418delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1280,
          "referenceAllele": "C",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.1166del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ala389GlufsTer11",
        "hgvsWellDefined": "NP_000268.1:p.[Ala389del;Ser391_Lys398delinsArg;Arg400_Ile406delinsLeuMetMet;Pro409_Val412del;Tyr414_Thr418delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1166del"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1166del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Ala389GlufsTer11"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Ala389GlufsTer11"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1508,
          "referenceAllele": "C",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.1166del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Ala389GlufsTer11",
        "hgvsWellDefined": "NP_001341233.1:p.[Ala389del;Ser391_Lys398delinsArg;Arg400_Ile406delinsLeuMetMet;Pro409_Val412del;Tyr414_Thr418delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}