{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA166215774",
  "communityStandardTitle": [
    "NM_001098629.3(IRF5):c.-12+198T>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.128938247T>G?assembly=hg38",
        "id": "chr7:g.128938247T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2004640",
        "rs": 2004640
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-128938247-T-G?dataset=gnomad_r3",
        "id": "7-128938247-T-G",
        "variant": "7:128938247 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-128938247-T-G?dataset=gnomad_r4",
        "id": "7-128938247-T-G",
        "variant": "7:128938247 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 128938247,
          "referenceAllele": "T",
          "start": 128938246
        }
      ],
      "hgvs": [
        "NC_000007.14:g.128938247T>G",
        "CM000669.2:g.128938247T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 52,
          "endIntronDirection": "+",
          "endIntronOffset": 413,
          "referenceAllele": "T",
          "start": 52,
          "startIntronDirection": "+",
          "startIntronOffset": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "ENST00000700148.1:n.52+413T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910998"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 123,
          "endIntronDirection": "+",
          "endIntronOffset": 198,
          "referenceAllele": "T",
          "start": 123,
          "startIntronDirection": "+",
          "startIntronOffset": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "ENST00000357234.10:c.-12+198T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349770.5:n.-12+198T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748912",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357234.10:c.-12+198T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001098629.3:c.-12+198T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349770.5:n.-12+198T>G"
          },
          "RefSeq": {
            "hgvs": "NP_001092099.1:n.-12+198T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 223,
          "endIntronDirection": "+",
          "endIntronOffset": 413,
          "referenceAllele": "T",
          "start": 223,
          "startIntronDirection": "+",
          "startIntronOffset": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "ENST00000489702.6:c.-12+413T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418037.2:n.-12+413T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757615"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 29,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 29,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "ENST00000650798.1:n.29+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21,
          "endIntronDirection": "+",
          "endIntronOffset": 198,
          "referenceAllele": "T",
          "start": 21,
          "startIntronDirection": "+",
          "startIntronOffset": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "ENST00000652142.1:n.21+198T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 238,
          "endIntronDirection": "+",
          "endIntronOffset": 553,
          "referenceAllele": "T",
          "start": 238,
          "startIntronDirection": "+",
          "startIntronOffset": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "ENST00000652525.1:c.-12+553T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498293.1:n.-12+553T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772257"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 29,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 29,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "ENST00000249375.8:c.-12+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249375.4:n.-12+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 110,
          "endIntronDirection": "+",
          "endIntronOffset": 198,
          "referenceAllele": "T",
          "start": 110,
          "startIntronDirection": "+",
          "startIntronOffset": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "ENST00000357234.9:c.-12+198T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349770.5:n.-12+198T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 61,
          "endIntronDirection": "+",
          "endIntronOffset": 198,
          "referenceAllele": "T",
          "start": 61,
          "startIntronDirection": "+",
          "startIntronOffset": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "ENST00000402030.6:c.-12+198T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385352.2:n.-12+198T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 69,
          "endIntronDirection": "+",
          "endIntronOffset": 198,
          "referenceAllele": "T",
          "start": 69,
          "startIntronDirection": "+",
          "startIntronOffset": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "ENST00000461416.1:n.69+198T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305933"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 78,
          "endIntronDirection": "+",
          "endIntronOffset": 198,
          "referenceAllele": "T",
          "start": 78,
          "startIntronDirection": "+",
          "startIntronOffset": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "ENST00000464557.5:c.-158+198T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419056.1:n.-158+198T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 198,
          "referenceAllele": "T",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "ENST00000473787.5:c.-12+198T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420274.1:n.-12+198T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315451"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 110,
          "endIntronDirection": "+",
          "endIntronOffset": 198,
          "referenceAllele": "T",
          "start": 110,
          "startIntronDirection": "+",
          "startIntronOffset": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "ENST00000477535.5:c.-12+198T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419950.1:n.-12+198T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS318322"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 88,
          "endIntronDirection": "+",
          "endIntronOffset": 198,
          "referenceAllele": "T",
          "start": 88,
          "startIntronDirection": "+",
          "startIntronOffset": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "ENST00000479582.5:c.-125+198T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417770.1:n.-125+198T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319927"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 113,
          "endIntronDirection": "+",
          "endIntronOffset": 198,
          "referenceAllele": "T",
          "start": 113,
          "startIntronDirection": "+",
          "startIntronOffset": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "ENST00000488569.5:n.113+198T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326835"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 223,
          "endIntronDirection": "+",
          "endIntronOffset": 413,
          "referenceAllele": "T",
          "start": 223,
          "startIntronDirection": "+",
          "startIntronOffset": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "ENST00000489702.5:c.-12+413T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418037.1:n.-12+413T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327707"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 110,
          "endIntronDirection": "+",
          "endIntronOffset": 198,
          "referenceAllele": "T",
          "start": 110,
          "startIntronDirection": "+",
          "startIntronOffset": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "ENST00000613821.4:c.-12+198T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480058.1:n.-12+198T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401904"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 113,
          "endIntronDirection": "+",
          "endIntronOffset": 198,
          "referenceAllele": "T",
          "start": 113,
          "startIntronDirection": "+",
          "startIntronOffset": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "NM_001098629.2:c.-12+198T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092099.1:n.-12+198T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 113,
          "endIntronDirection": "+",
          "endIntronOffset": 198,
          "referenceAllele": "T",
          "start": 113,
          "startIntronDirection": "+",
          "startIntronOffset": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "NM_001098630.2:c.-12+198T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092100.1:n.-12+198T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 113,
          "endIntronDirection": "+",
          "endIntronOffset": 198,
          "referenceAllele": "T",
          "start": 113,
          "startIntronDirection": "+",
          "startIntronOffset": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "NM_001242452.2:c.-12+198T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229381.1:n.-12+198T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 29,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 29,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "NM_032643.4:c.-12+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_116032.1:n.-12+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039239"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 196,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 196,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "XM_006715974.2:c.-12+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716037.1:n.-12+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071443"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 98,
          "endIntronDirection": "+",
          "endIntronOffset": 413,
          "referenceAllele": "T",
          "start": 98,
          "startIntronDirection": "+",
          "startIntronOffset": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "XM_011516160.1:c.-12+413T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514462.1:n.-12+413T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083363"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 128,
          "endIntronDirection": "+",
          "endIntronOffset": 198,
          "referenceAllele": "T",
          "start": 128,
          "startIntronDirection": "+",
          "startIntronOffset": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "XM_011516161.1:c.-12+198T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514463.1:n.-12+198T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083364"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 128,
          "endIntronDirection": "+",
          "endIntronOffset": 198,
          "referenceAllele": "T",
          "start": 128,
          "startIntronDirection": "+",
          "startIntronOffset": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "XM_011516162.1:c.-12+198T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514464.1:n.-12+198T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 196,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 196,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "XM_011516164.1:c.-12+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514466.1:n.-12+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "endIntronDirection": "+",
          "endIntronOffset": 982,
          "referenceAllele": "T",
          "start": 234,
          "startIntronDirection": "+",
          "startIntronOffset": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "NM_001347928.1:c.-12+982T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334857.1:n.-12+982T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 123,
          "endIntronDirection": "+",
          "endIntronOffset": 198,
          "referenceAllele": "T",
          "start": 123,
          "startIntronDirection": "+",
          "startIntronOffset": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "NM_001098629.3:c.-12+198T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092099.1:n.-12+198T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663390",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357234.10:c.-12+198T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001098629.3:c.-12+198T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349770.5:n.-12+198T>G"
          },
          "RefSeq": {
            "hgvs": "NP_001092099.1:n.-12+198T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 123,
          "endIntronDirection": "+",
          "endIntronOffset": 198,
          "referenceAllele": "T",
          "start": 123,
          "startIntronDirection": "+",
          "startIntronOffset": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "NM_001098630.3:c.-12+198T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092100.1:n.-12+198T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676466"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 123,
          "endIntronDirection": "+",
          "endIntronOffset": 198,
          "referenceAllele": "T",
          "start": 123,
          "startIntronDirection": "+",
          "startIntronOffset": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "NM_001242452.3:c.-12+198T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229381.1:n.-12+198T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680069"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "endIntronDirection": "+",
          "endIntronOffset": 982,
          "referenceAllele": "T",
          "start": 234,
          "startIntronDirection": "+",
          "startIntronOffset": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "NM_001347928.2:c.-12+982T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334857.1:n.-12+982T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687523"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 29,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 29,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006120",
      "geneNCBI_id": 3663,
      "geneSymbol": "IRF5",
      "hgvs": [
        "NM_032643.5:c.-12+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_116032.1:n.-12+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728865"
    }
  ],
  "type": "nucleotide"
}