{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1140234949",
  "communityStandardTitle": [
    "NM_005525.4(HSD11B1):c.517+4845C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11119328",
        "rs": 11119328
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 209711973,
          "referenceAllele": "C",
          "start": 209711972
        }
      ],
      "hgvs": [
        "NC_000001.11:g.209711973C=",
        "CM000663.2:g.209711973C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 209885318,
          "referenceAllele": "C",
          "start": 209885317
        }
      ],
      "hgvs": [
        "NC_000001.10:g.209885318C=",
        "CM000663.1:g.209885318C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 207951941,
          "referenceAllele": "C",
          "start": 207951940
        }
      ],
      "hgvs": [
        "NC_000001.9:g.207951941C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30769,
          "referenceAllele": "C",
          "start": 30768
        }
      ],
      "hgvs": [
        "NG_012081.1:g.30769C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002166"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 614,
          "endIntronDirection": "+",
          "endIntronOffset": 4845,
          "referenceAllele": "C",
          "start": 614,
          "startIntronDirection": "+",
          "startIntronOffset": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005208",
      "geneNCBI_id": 3290,
      "geneSymbol": "HSD11B1",
      "hgvs": [
        "ENST00000367027.5:c.517+4845C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355994.3:n.517+4845C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749909",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367027.5:c.517+4845C="
          },
          "RefSeq": {
            "hgvs": "NM_005525.4:c.517+4845C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355994.3:n.517+4845C="
          },
          "RefSeq": {
            "hgvs": "NP_005516.1:n.517+4845C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 582,
          "endIntronDirection": "+",
          "endIntronOffset": 4845,
          "referenceAllele": "C",
          "start": 582,
          "startIntronDirection": "+",
          "startIntronOffset": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005208",
      "geneNCBI_id": 3290,
      "geneSymbol": "HSD11B1",
      "hgvs": [
        "ENST00000261465.5:c.517+4845C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261465.2:n.517+4845C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250757"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 614,
          "endIntronDirection": "+",
          "endIntronOffset": 4845,
          "referenceAllele": "C",
          "start": 614,
          "startIntronDirection": "+",
          "startIntronOffset": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005208",
      "geneNCBI_id": 3290,
      "geneSymbol": "HSD11B1",
      "hgvs": [
        "ENST00000367027.4:c.517+4845C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355994.3:n.517+4845C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 671,
          "endIntronDirection": "+",
          "endIntronOffset": 4845,
          "referenceAllele": "C",
          "start": 671,
          "startIntronDirection": "+",
          "startIntronOffset": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005208",
      "geneNCBI_id": 3290,
      "geneSymbol": "HSD11B1",
      "hgvs": [
        "ENST00000367028.6:c.517+4845C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355995.1:n.517+4845C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "endIntronDirection": "+",
          "endIntronOffset": 4845,
          "referenceAllele": "C",
          "start": 651,
          "startIntronDirection": "+",
          "startIntronOffset": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005208",
      "geneNCBI_id": 3290,
      "geneSymbol": "HSD11B1",
      "hgvs": [
        "ENST00000615289.4:c.517+4845C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478430.1:n.517+4845C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402548"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 671,
          "endIntronDirection": "+",
          "endIntronOffset": 4845,
          "referenceAllele": "C",
          "start": 671,
          "startIntronDirection": "+",
          "startIntronOffset": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005208",
      "geneNCBI_id": 3290,
      "geneSymbol": "HSD11B1",
      "hgvs": [
        "NM_001206741.1:c.517+4845C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193670.1:n.517+4845C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 669,
          "endIntronDirection": "+",
          "endIntronOffset": 4845,
          "referenceAllele": "C",
          "start": 669,
          "startIntronDirection": "+",
          "startIntronOffset": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005208",
      "geneNCBI_id": 3290,
      "geneSymbol": "HSD11B1",
      "hgvs": [
        "NM_005525.3:c.517+4845C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005516.1:n.517+4845C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030616"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 649,
          "endIntronDirection": "+",
          "endIntronOffset": 4845,
          "referenceAllele": "C",
          "start": 649,
          "startIntronDirection": "+",
          "startIntronOffset": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005208",
      "geneNCBI_id": 3290,
      "geneSymbol": "HSD11B1",
      "hgvs": [
        "NM_181755.2:c.517+4845C="
      ],
      "proteinEffect": {
        "hgvs": "NP_861420.1:n.517+4845C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043857"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3234,
          "endIntronDirection": "+",
          "endIntronOffset": 12057,
          "referenceAllele": "G",
          "start": 3234,
          "startIntronDirection": "+",
          "startIntronOffset": 12056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054053",
      "geneNCBI_id": 101930114,
      "geneSymbol": "HSD11B1-AS1",
      "hgvs": [
        "XR_922542.1:n.3234+12057G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3225,
          "endIntronDirection": "+",
          "endIntronOffset": 12057,
          "referenceAllele": "G",
          "start": 3225,
          "startIntronDirection": "+",
          "startIntronOffset": 12056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054053",
      "geneNCBI_id": 101930114,
      "geneSymbol": "HSD11B1-AS1",
      "hgvs": [
        "XR_922543.1:n.3225+12057G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119605"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3090,
          "endIntronDirection": "+",
          "endIntronOffset": 30524,
          "referenceAllele": "G",
          "start": 3090,
          "startIntronDirection": "+",
          "startIntronOffset": 30523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054053",
      "geneNCBI_id": 101930114,
      "geneSymbol": "HSD11B1-AS1",
      "hgvs": [
        "XR_922547.1:n.3090+30524G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 124,
          "endIntronDirection": "+",
          "endIntronOffset": 45503,
          "referenceAllele": "G",
          "start": 124,
          "startIntronDirection": "+",
          "startIntronOffset": 45502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054053",
      "geneNCBI_id": 101930114,
      "geneSymbol": "HSD11B1-AS1",
      "hgvs": [
        "XR_922549.1:n.124+45503G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 96,
          "endIntronDirection": "+",
          "endIntronOffset": 12057,
          "referenceAllele": "G",
          "start": 96,
          "startIntronDirection": "+",
          "startIntronOffset": 12056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054053",
      "geneNCBI_id": 101930114,
      "geneSymbol": "HSD11B1-AS1",
      "hgvs": [
        "NR_134509.1:n.96+12057G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66,
          "endIntronDirection": "+",
          "endIntronOffset": 30524,
          "referenceAllele": "G",
          "start": 66,
          "startIntronDirection": "+",
          "startIntronOffset": 30523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054053",
      "geneNCBI_id": 101930114,
      "geneSymbol": "HSD11B1-AS1",
      "hgvs": [
        "NR_134510.1:n.66+30524G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 614,
          "endIntronDirection": "+",
          "endIntronOffset": 4845,
          "referenceAllele": "C",
          "start": 614,
          "startIntronDirection": "+",
          "startIntronOffset": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005208",
      "geneNCBI_id": 3290,
      "geneSymbol": "HSD11B1",
      "hgvs": [
        "NM_005525.4:c.517+4845C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005516.1:n.517+4845C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667011",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367027.5:c.517+4845C="
          },
          "RefSeq": {
            "hgvs": "NM_005525.4:c.517+4845C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355994.3:n.517+4845C="
          },
          "RefSeq": {
            "hgvs": "NP_005516.1:n.517+4845C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 672,
          "endIntronDirection": "+",
          "endIntronOffset": 4845,
          "referenceAllele": "C",
          "start": 672,
          "startIntronDirection": "+",
          "startIntronOffset": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005208",
      "geneNCBI_id": 3290,
      "geneSymbol": "HSD11B1",
      "hgvs": [
        "NM_001206741.2:c.517+4845C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193670.1:n.517+4845C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 650,
          "endIntronDirection": "+",
          "endIntronOffset": 4845,
          "referenceAllele": "C",
          "start": 650,
          "startIntronDirection": "+",
          "startIntronOffset": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005208",
      "geneNCBI_id": 3290,
      "geneSymbol": "HSD11B1",
      "hgvs": [
        "NM_181755.3:c.517+4845C="
      ],
      "proteinEffect": {
        "hgvs": "NP_861420.1:n.517+4845C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729738"
    }
  ],
  "type": "nucleotide"
}