{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1781875333",
  "communityStandardTitle": [
    "NM_006904.7(PRKDC):c.3464+326A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/8178085",
        "rs": 8178085
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 47898144,
          "referenceAllele": "T",
          "start": 47898143
        }
      ],
      "hgvs": [
        "NC_000008.11:g.47898144T=",
        "CM000670.2:g.47898144T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 48810704,
          "referenceAllele": "T",
          "start": 48810703
        }
      ],
      "hgvs": [
        "NC_000008.10:g.48810704T=",
        "CM000670.1:g.48810704T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 48973257,
          "referenceAllele": "T",
          "start": 48973256
        }
      ],
      "hgvs": [
        "NC_000008.9:g.48973257T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 67040,
          "referenceAllele": "A",
          "start": 67039
        }
      ],
      "hgvs": [
        "NG_023435.1:g.67040A=",
        "LRG_162:g.67040A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003865"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3474,
          "endIntronDirection": "+",
          "endIntronOffset": 326,
          "referenceAllele": "A",
          "start": 3474,
          "startIntronDirection": "+",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009413",
      "geneNCBI_id": 5591,
      "geneSymbol": "PRKDC",
      "hgvs": [
        "ENST00000314191.7:c.3464+326A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313420.3:n.3464+326A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745908",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314191.7:c.3464+326A="
          },
          "RefSeq": {
            "hgvs": "NM_006904.7:c.3464+326A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313420.3:n.3464+326A="
          },
          "RefSeq": {
            "hgvs": "NP_008835.5:n.3464+326A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3521,
          "endIntronDirection": "+",
          "endIntronOffset": 326,
          "referenceAllele": "A",
          "start": 3521,
          "startIntronDirection": "+",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009413",
      "geneNCBI_id": 5591,
      "geneSymbol": "PRKDC",
      "hgvs": [
        "ENST00000314191.6:c.3464+326A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313420.3:n.3464+326A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3516,
          "endIntronDirection": "+",
          "endIntronOffset": 326,
          "referenceAllele": "A",
          "start": 3516,
          "startIntronDirection": "+",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009413",
      "geneNCBI_id": 5591,
      "geneSymbol": "PRKDC",
      "hgvs": [
        "ENST00000338368.7:c.3464+326A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345182.4:n.3464+326A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260637"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3521,
          "endIntronDirection": "+",
          "endIntronOffset": 326,
          "referenceAllele": "A",
          "start": 3521,
          "startIntronDirection": "+",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009413",
      "geneNCBI_id": 5591,
      "geneSymbol": "PRKDC",
      "hgvs": [
        "NM_001081640.1:c.3464+326A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001075109.1:n.3464+326A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3521,
          "endIntronDirection": "+",
          "endIntronOffset": 326,
          "referenceAllele": "A",
          "start": 3521,
          "startIntronDirection": "+",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009413",
      "geneNCBI_id": 5591,
      "geneSymbol": "PRKDC",
      "hgvs": [
        "NM_006904.6:c.3464+326A=",
        "LRG_162t1:c.3464+326A="
      ],
      "proteinEffect": {
        "hgvs": "NP_008835.5:n.3464+326A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3498,
          "endIntronDirection": "+",
          "endIntronOffset": 326,
          "referenceAllele": "A",
          "start": 3498,
          "startIntronDirection": "+",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009413",
      "geneNCBI_id": 5591,
      "geneSymbol": "PRKDC",
      "hgvs": [
        "XM_011517567.1:c.3464+326A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515869.1:n.3464+326A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084755"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3498,
          "endIntronDirection": "+",
          "endIntronOffset": 326,
          "referenceAllele": "A",
          "start": 3498,
          "startIntronDirection": "+",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009413",
      "geneNCBI_id": 5591,
      "geneSymbol": "PRKDC",
      "hgvs": [
        "XM_011517568.1:c.3464+326A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515870.1:n.3464+326A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3474,
          "endIntronDirection": "+",
          "endIntronOffset": 326,
          "referenceAllele": "A",
          "start": 3474,
          "startIntronDirection": "+",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009413",
      "geneNCBI_id": 5591,
      "geneSymbol": "PRKDC",
      "hgvs": [
        "NM_001081640.2:c.3464+326A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001075109.1:n.3464+326A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3474,
          "endIntronDirection": "+",
          "endIntronOffset": 326,
          "referenceAllele": "A",
          "start": 3474,
          "startIntronDirection": "+",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009413",
      "geneNCBI_id": 5591,
      "geneSymbol": "PRKDC",
      "hgvs": [
        "NM_006904.7:c.3464+326A="
      ],
      "proteinEffect": {
        "hgvs": "NP_008835.5:n.3464+326A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314191.7:c.3464+326A="
          },
          "RefSeq": {
            "hgvs": "NM_006904.7:c.3464+326A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313420.3:n.3464+326A="
          },
          "RefSeq": {
            "hgvs": "NP_008835.5:n.3464+326A="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}