{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1140043972",
  "communityStandardTitle": [
    "NM_000565.4(IL6R):c.-208G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4845617",
        "rs": 4845617
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 154405422,
          "referenceAllele": "G",
          "start": 154405421
        }
      ],
      "hgvs": [
        "NC_000001.11:g.154405422G=",
        "CM000663.2:g.154405422G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 154377898,
          "referenceAllele": "G",
          "start": 154377897
        }
      ],
      "hgvs": [
        "NC_000001.10:g.154377898G=",
        "CM000663.1:g.154377898G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 152644522,
          "referenceAllele": "G",
          "start": 152644521
        }
      ],
      "hgvs": [
        "NC_000001.9:g.152644522G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5230,
          "referenceAllele": "G",
          "start": 5229
        }
      ],
      "hgvs": [
        "NG_012087.1:g.5230G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002171"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 230,
          "referenceAllele": "G",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "ENST00000622330.5:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477739.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906307"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "ENST00000368485.8:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357470.3:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750218",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368485.8:c.-208G="
          },
          "RefSeq": {
            "hgvs": "NM_000565.4:c.-208G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357470.3:n.-208G="
          },
          "RefSeq": {
            "hgvs": "NP_000556.1:n.-208G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 200,
          "referenceAllele": "G",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "ENST00000344086.8:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340589.4:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261894"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 230,
          "referenceAllele": "G",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "ENST00000368485.7:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357470.3:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 230,
          "referenceAllele": "G",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "ENST00000622330.4:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477739.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 230,
          "referenceAllele": "G",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "NM_000565.3:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000556.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 230,
          "referenceAllele": "G",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "NM_001206866.1:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193795.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017875"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 230,
          "referenceAllele": "G",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "NM_181359.2:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "NP_852004.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043697"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 189,
          "referenceAllele": "G",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "XM_005245139.1:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005245196.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 189,
          "referenceAllele": "G",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "XM_005245140.1:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005245197.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 189,
          "referenceAllele": "G",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "XM_006711298.1:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006711361.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069057"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 189,
          "referenceAllele": "G",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "XM_006711299.2:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006711362.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069058"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2396,
          "endIntronDirection": "+",
          "endIntronOffset": 1017,
          "referenceAllele": "C",
          "start": 2396,
          "startIntronDirection": "+",
          "startIntronOffset": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053716",
      "geneNCBI_id": 101928101,
      "geneSymbol": "IL6R-AS1",
      "hgvs": [
        "XR_241131.2:n.2396+1017C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS115975"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 126,
          "endIntronDirection": "+",
          "endIntronOffset": 1017,
          "referenceAllele": "C",
          "start": 126,
          "startIntronDirection": "+",
          "startIntronOffset": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053716",
      "geneNCBI_id": 101928101,
      "geneSymbol": "IL6R-AS1",
      "hgvs": [
        "NR_147855.1:n.126+1017C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530870"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "XM_005245139.2:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005245196.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "XM_005245140.3:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005245197.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532373"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "XM_006711298.2:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006711361.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537968"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "XM_006711299.4:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006711362.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537969"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "XM_017001199.2:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856688.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "XM_017001200.2:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856689.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557416"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "XM_017001201.2:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856690.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557417"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "NM_000565.4:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000556.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662487",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368485.8:c.-208G="
          },
          "RefSeq": {
            "hgvs": "NM_000565.4:c.-208G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357470.3:n.-208G="
          },
          "RefSeq": {
            "hgvs": "NP_000556.1:n.-208G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "NM_181359.3:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "NP_852004.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "NM_001206866.2:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193795.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714240"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "NM_001382769.1:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369698.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "NM_001382770.1:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369699.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "NM_001382771.1:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369700.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "NM_001382772.1:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369701.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "NM_001382773.1:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369702.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006019",
      "geneNCBI_id": 3570,
      "geneSymbol": "IL6R",
      "hgvs": [
        "NM_001382774.1:c.-208G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369703.1:n.-208G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722612"
    }
  ],
  "type": "nucleotide"
}