{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1636697511",
  "communityStandardTitle": [
    "NM_001851.6(COL9A1):c.876+2T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149830493",
        "rs": 149830493
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/672601329",
        "rs": 672601329
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 70281388,
          "referenceAllele": "A",
          "start": 70281387
        }
      ],
      "hgvs": [
        "NC_000006.12:g.70281388A=",
        "CM000668.2:g.70281388A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 70991091,
          "referenceAllele": "A",
          "start": 70991090
        }
      ],
      "hgvs": [
        "NC_000006.11:g.70991091A=",
        "CM000668.1:g.70991091A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 71047812,
          "referenceAllele": "A",
          "start": 71047811
        }
      ],
      "hgvs": [
        "NC_000006.10:g.71047812A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26696,
          "referenceAllele": "T",
          "start": 26695
        }
      ],
      "hgvs": [
        "NG_011654.1:g.26696T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001887"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 292,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 292,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "ENST00000683980.2:c.147+2T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506990.1:n.147+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906563"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 331,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 331,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "ENST00000683758.1:c.147+2T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508147.1:n.147+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 200,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "ENST00000683980.1:c.147+2T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506990.1:n.147+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 218,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 218,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "ENST00000684176.1:n.218+2T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 304,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "ENST00000320755.12:c.147+2T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315252.7:n.147+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1036,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1036,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "ENST00000357250.11:c.876+2T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349790.6:n.876+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748918",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357250.11:c.876+2T="
          },
          "RefSeq": {
            "hgvs": "NM_001851.6:c.876+2T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349790.6:n.876+2T="
          },
          "RefSeq": {
            "hgvs": "NP_001842.3:n.876+2T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 340,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 340,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "ENST00000644493.1:c.147+2T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495638.1:n.147+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 304,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "ENST00000320755.11:c.147+2T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315252.7:n.147+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1035,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1035,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "ENST00000357250.10:c.876+2T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349790.6:n.876+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1022,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1022,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "ENST00000370496.3:c.876+2T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359527.3:n.876+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1035,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1035,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "NM_001851.4:c.876+2T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001842.3:n.876+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 303,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 303,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "NM_078485.3:c.147+2T="
      ],
      "proteinEffect": {
        "hgvs": "NP_511040.2:n.147+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1035,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1035,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "XM_011535429.1:c.876+2T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533731.1:n.876+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 299,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "XM_011535430.1:c.147+2T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533732.1:n.147+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1035,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1035,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "XM_011535429.3:c.876+2T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533731.1:n.876+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 302,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "XM_011535430.3:c.147+2T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533732.1:n.147+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 393,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 393,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "XM_017010246.2:c.327+2T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865735.1:n.327+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 292,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 292,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "NM_001377289.1:c.147+2T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364218.1:n.147+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 292,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 292,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "NM_001377290.1:c.147+2T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364219.1:n.147+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1036,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1036,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "NM_001377291.1:c.876+2T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364220.1:n.876+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1036,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1036,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "NM_001851.5:c.876+2T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001842.3:n.876+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 292,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 292,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "NM_078485.4:c.147+2T="
      ],
      "proteinEffect": {
        "hgvs": "NP_511040.2:n.147+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 292,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 292,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "NR_165185.1:n.292+2T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1036,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1036,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "NM_001851.6:c.876+2T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001842.3:n.876+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727215",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357250.11:c.876+2T="
          },
          "RefSeq": {
            "hgvs": "NM_001851.6:c.876+2T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349790.6:n.876+2T="
          },
          "RefSeq": {
            "hgvs": "NP_001842.3:n.876+2T="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}