{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA919913588",
  "communityStandardTitle": [
    "NM_001071.4(TYMS):c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34743033",
        "rs": 34743033
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG",
          "end": 657730,
          "referenceAllele": "GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC",
          "start": 657656
        }
      ],
      "hgvs": [
        "NC_000018.10:g.657657_657730delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG",
        "CM000680.2:g.657657_657730delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG",
          "end": 657730,
          "referenceAllele": "GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC",
          "start": 657656
        }
      ],
      "hgvs": [
        "NC_000018.9:g.657657_657730delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG",
        "CM000680.1:g.657657_657730delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG",
          "end": 647730,
          "referenceAllele": "GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC",
          "start": 647656
        }
      ],
      "hgvs": [
        "NC_000018.8:g.647657_647730delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG",
          "end": 5127,
          "referenceAllele": "GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC",
          "start": 5053
        }
      ],
      "hgvs": [
        "NG_028255.1:g.5054_5127delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG",
        "LRG_783:g.5054_5127delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004155"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG",
          "end": 78,
          "referenceAllele": "GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC",
          "start": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "ENST00000323274.15:c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315644.10:n.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746550",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323274.15:c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
          },
          "RefSeq": {
            "hgvs": "NM_001071.4:c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315644.10:n.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
          },
          "RefSeq": {
            "hgvs": "NP_001062.1:n.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG",
          "end": 127,
          "referenceAllele": "GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "ENST00000323274.14:c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315644.10:n.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258190"
    },
    {
      "coordinates": [
        {
          "allele": "CGGGACGGAGGCAGGCGAAGTGGCGCGGCGGGACGGAGGCAGGCG",
          "end": 499,
          "endIntronDirection": "+",
          "endIntronOffset": 185,
          "referenceAllele": "GGGGGACGGAGGCAGGCGAAGTGGCGCGGCGGGACGGAGGCAGGCCAAGTGGCGCGGCGGGACGGAGGCAGGCC",
          "start": 499,
          "startIntronDirection": "+",
          "startIntronOffset": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029553",
      "geneNCBI_id": 494514,
      "geneSymbol": "TYMSOS",
      "hgvs": [
        "NM_001012716.2:c.*34+112_*34+185delinsCGGGACGGAGGCAGGCGAAGTGGCGCGGCGGGACGGAGGCAGGCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012734.2:n.*34+112_*34+185delinsCGGGACGGAGGCAGGCGAAGTGGCGCGGCGGGACGGAGGCAGGCG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008344"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG",
          "end": 127,
          "referenceAllele": "GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "NM_001071.2:c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG",
        "LRG_783t1:c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001062.1:n.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009905"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG",
          "end": 147,
          "referenceAllele": "GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC",
          "start": 73
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "NM_001071.3:c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001062.1:n.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511199"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG",
          "end": 147,
          "referenceAllele": "GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC",
          "start": 73
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "NM_001354867.1:c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341796.1:n.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522725"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG",
          "end": 147,
          "referenceAllele": "GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC",
          "start": 73
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "NM_001354868.1:c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341797.1:n.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522726"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG",
          "end": 78,
          "referenceAllele": "GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC",
          "start": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "NM_001071.4:c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001062.1:n.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663230",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323274.15:c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
          },
          "RefSeq": {
            "hgvs": "NM_001071.4:c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315644.10:n.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
          },
          "RefSeq": {
            "hgvs": "NP_001062.1:n.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CGGGACGGAGGCAGGCGAAGTGGCGCGGCGGGACGGAGGCAGGCG",
          "end": 450,
          "endIntronDirection": "+",
          "endIntronOffset": 185,
          "referenceAllele": "GGGGGACGGAGGCAGGCGAAGTGGCGCGGCGGGACGGAGGCAGGCCAAGTGGCGCGGCGGGACGGAGGCAGGCC",
          "start": 450,
          "startIntronDirection": "+",
          "startIntronOffset": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029553",
      "geneNCBI_id": 494514,
      "geneSymbol": "TYMSOS",
      "hgvs": [
        "NM_001012716.3:c.*34+112_*34+185delinsCGGGACGGAGGCAGGCGAAGTGGCGCGGCGGGACGGAGGCAGGCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012734.2:n.*34+112_*34+185delinsCGGGACGGAGGCAGGCGAAGTGGCGCGGCGGGACGGAGGCAGGCG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675444"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG",
          "end": 78,
          "referenceAllele": "GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC",
          "start": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "NM_001354867.2:c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341796.1:n.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690342"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG",
          "end": 78,
          "referenceAllele": "GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC",
          "start": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012441",
      "geneNCBI_id": 7298,
      "geneSymbol": "TYMS",
      "hgvs": [
        "NM_001354868.2:c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341797.1:n.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690343"
    },
    {
      "coordinates": [
        {
          "allele": "CGGGACGGAGGCAGGCGAAGTGGCGCGGCGGGACGGAGGCAGGCG",
          "end": 450,
          "endIntronDirection": "+",
          "endIntronOffset": 185,
          "referenceAllele": "GGGGGACGGAGGCAGGCGAAGTGGCGCGGCGGGACGGAGGCAGGCCAAGTGGCGCGGCGGGACGGAGGCAGGCC",
          "start": 450,
          "startIntronDirection": "+",
          "startIntronOffset": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029553",
      "geneNCBI_id": 494514,
      "geneSymbol": "TYMSOS",
      "hgvs": [
        "NR_171001.1:n.450+112_450+185delinsCGGGACGGAGGCAGGCGAAGTGGCGCGGCGGGACGGAGGCAGGCG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732926"
    }
  ],
  "type": "nucleotide"
}