{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2059456968",
  "communityStandardTitle": [
    "NC_000012.12:g.102866594_102866662delinsACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAAC"
  ],
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "ACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAAC",
          "end": 102866662,
          "referenceAllele": "ACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAAC",
          "start": 102866593
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102866594_102866662delinsACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAAC",
        "CM000674.2:g.102866594_102866662delinsACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAAC"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "ACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAAC",
          "end": 103260440,
          "referenceAllele": "ACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAAC",
          "start": 103260371
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103260372_103260440delinsACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAAC",
        "CM000674.1:g.103260372_103260440delinsACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAAC"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "ACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAAC",
          "end": 101784570,
          "referenceAllele": "ACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAAC",
          "start": 101784501
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101784502_101784570delinsACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAAC"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "end": 56009,
          "referenceAllele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "start": 55940
        }
      ],
      "hgvs": [
        "NG_008690.1:g.55941_56009delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "end": 96817,
          "referenceAllele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "start": 96748
        }
      ],
      "hgvs": [
        "NG_008690.2:g.96749_96817delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "end": 623,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.443_509+2delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760047"
    },
    {
      "coordinates": [
        {
          "allele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "end": 765,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.428_494+2delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "end": 605,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.539_605+2delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "end": 530,
          "endIntronDirection": "+",
          "endIntronOffset": 10868,
          "referenceAllele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "start": 530,
          "startIntronDirection": "+",
          "startIntronOffset": 10799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551988.5:n.530+10800_530+10868delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368983"
    },
    {
      "coordinates": [
        {
          "allele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "end": 982,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.443_509+2delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.443_509+2delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "end": 624,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.443_509+2delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "coordinates": [
        {
          "allele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "end": 982,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.443_509+2delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "end": 820,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.443_509+2delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "end": 623,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.443_509+2delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "coordinates": [
        {
          "allele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "end": 623,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.443_509+2delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS662381"
    },
    {
      "coordinates": [
        {
          "allele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "end": 851,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.443_509+2delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}