{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1185278447",
  "communityStandardTitle": [
    "NM_001854.4(COL11A1):c.2340+1883G>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11809524",
        "rs": 11809524
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 102993981,
          "referenceAllele": "C",
          "start": 102993980
        }
      ],
      "hgvs": [
        "NC_000001.11:g.102993981C>G",
        "CM000663.2:g.102993981C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 103459537,
          "referenceAllele": "C",
          "start": 103459536
        }
      ],
      "hgvs": [
        "NC_000001.10:g.103459537C>G",
        "CM000663.1:g.103459537C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 103232125,
          "referenceAllele": "C",
          "start": 103232124
        }
      ],
      "hgvs": [
        "NC_000001.9:g.103232125C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 119516,
          "referenceAllele": "G",
          "start": 119515
        }
      ],
      "hgvs": [
        "NG_008033.1:g.119516G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 119516,
          "referenceAllele": "G",
          "start": 119515
        }
      ],
      "hgvs": [
        "NG_008033.2:g.119516G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673484"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2684,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2684,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000370096.9:c.2340+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359114.3:n.2340+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750540",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370096.9:c.2340+1883G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001854.4:c.2340+1883G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359114.3:n.2340+1883G>C"
          },
          "RefSeq": {
            "hgvs": "NP_001845.3:n.2340+1883G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2541,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2541,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000353414.8:c.2223+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302551.6:n.2223+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262967"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2694,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2694,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000358392.6:c.2376+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351163.2:n.2376+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264435"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2653,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2653,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000370096.7:c.2340+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359114.3:n.2340+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267871"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2293,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2293,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000512756.5:c.1992+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426533.1:n.1992+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1658,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 1658,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000635193.1:c.1658+1883G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408062"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2541,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2541,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001190709.1:c.2223+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177638.1:n.2223+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2658,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2658,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001854.3:c.2340+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001845.3:n.2340+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2694,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2694,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080629.2:c.2376+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_542196.2:n.2376+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2310,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2310,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080630.3:c.1992+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_542197.3:n.1992+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2737,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2737,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_011540719.1:c.2340+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539021.1:n.2340+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107663"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 741,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 741,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_011540720.1:c.573+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539022.1:n.573+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107664"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1658,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 1658,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_011540721.1:c.-89+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539023.1:n.-89+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2738,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2738,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XR_946545.1:n.2738+1883G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2658,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2658,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NR_134980.1:n.2658+1883G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527909"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2894,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2894,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000334.1:c.2493+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855823.1:n.2493+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556713"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2888,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2888,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000335.1:c.2487+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855824.1:n.2487+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556714"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2895,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2895,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000336.1:c.2493+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855825.1:n.2493+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556715"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 1372,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000337.1:c.891+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855826.1:n.891+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556716"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2684,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2684,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001854.4:c.2340+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001845.3:n.2340+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665209",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370096.9:c.2340+1883G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001854.4:c.2340+1883G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359114.3:n.2340+1883G>C"
          },
          "RefSeq": {
            "hgvs": "NP_001845.3:n.2340+1883G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2336,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2336,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080630.4:c.1992+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_542197.3:n.1992+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699526"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2684,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2684,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NR_134980.2:n.2684+1883G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2567,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2567,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001190709.2:c.2223+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177638.1:n.2223+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2720,
          "endIntronDirection": "+",
          "endIntronOffset": 1883,
          "referenceAllele": "G",
          "start": 2720,
          "startIntronDirection": "+",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080629.3:c.2376+1883G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_542196.2:n.2376+1883G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729046"
    }
  ],
  "type": "nucleotide"
}