{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2059449071",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.693_694delinsTC (p.Ser231=)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "GA",
          "end": 102855149,
          "referenceAllele": "GA",
          "start": 102855147
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102855148_102855149delinsGA",
        "CM000674.2:g.102855148_102855149delinsGA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "GA",
          "end": 103248927,
          "referenceAllele": "GA",
          "start": 103248925
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103248926_103248927delinsGA",
        "CM000674.1:g.103248926_103248927delinsGA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "GA",
          "end": 101773057,
          "referenceAllele": "GA",
          "start": 101773055
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101773056_101773057delinsGA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 67455,
          "referenceAllele": "TC",
          "start": 67453
        }
      ],
      "hgvs": [
        "NG_008690.1:g.67454_67455delinsTC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 108263,
          "referenceAllele": "TC",
          "start": 108261
        }
      ],
      "hgvs": [
        "NG_008690.2:g.108262_108263delinsTC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 808,
          "referenceAllele": "TC",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.693_694delinsTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Ser231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.693_694delinsTC"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.693_694delinsTC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Ser231="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Ser231="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 950,
          "referenceAllele": "TC",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.678_679delinsTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Ser226="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 790,
          "referenceAllele": "TC",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.789_790delinsTC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 1167,
          "referenceAllele": "TC",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.693_694delinsTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Ser231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138044",
      "coordinates": [
        {
          "allele": "TC",
          "end": 1166,
          "referenceAllele": "TC",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.693_694delinsTC"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ser231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 809,
          "referenceAllele": "TC",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.693_694delinsTC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Ser231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138044",
      "coordinates": [
        {
          "allele": "TC",
          "end": 1167,
          "referenceAllele": "TC",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.693_694delinsTC"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ser231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827838366",
      "coordinates": [
        {
          "allele": "TC",
          "end": 1005,
          "referenceAllele": "TC",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.693_694delinsTC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Ser231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "TC",
          "end": 808,
          "referenceAllele": "TC",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.693_694delinsTC"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:p.Ser231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138044",
      "coordinates": [
        {
          "allele": "TC",
          "end": 808,
          "referenceAllele": "TC",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.693_694delinsTC"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ser231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.693_694delinsTC"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.693_694delinsTC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Ser231="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Ser231="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827838366",
      "coordinates": [
        {
          "allele": "TC",
          "end": 1036,
          "referenceAllele": "TC",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.693_694delinsTC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Ser231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}