{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139946499",
  "communityStandardTitle": [
    "NM_001854.4(COL11A1):c.3168+6419A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2622848",
        "rs": 2622848
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 102955447,
          "referenceAllele": "T",
          "start": 102955446
        }
      ],
      "hgvs": [
        "NC_000001.11:g.102955447T=",
        "CM000663.2:g.102955447T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 103421003,
          "referenceAllele": "T",
          "start": 103421002
        }
      ],
      "hgvs": [
        "NC_000001.10:g.103421003T=",
        "CM000663.1:g.103421003T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 103193591,
          "referenceAllele": "T",
          "start": 103193590
        }
      ],
      "hgvs": [
        "NC_000001.9:g.103193591T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 158050,
          "referenceAllele": "A",
          "start": 158049
        }
      ],
      "hgvs": [
        "NG_008033.1:g.158050A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 158050,
          "referenceAllele": "A",
          "start": 158049
        }
      ],
      "hgvs": [
        "NG_008033.2:g.158050A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673484"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3512,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 3512,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000370096.9:c.3168+6419A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359114.3:n.3168+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750540",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370096.9:c.3168+6419A="
          },
          "RefSeq": {
            "hgvs": "NM_001854.4:c.3168+6419A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359114.3:n.3168+6419A="
          },
          "RefSeq": {
            "hgvs": "NP_001845.3:n.3168+6419A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3369,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 3369,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000353414.8:c.3051+6419A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302551.6:n.3051+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3522,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 3522,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000358392.6:c.3204+6419A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351163.2:n.3204+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3481,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 3481,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000370096.7:c.3168+6419A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359114.3:n.3168+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3121,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 3121,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000512756.5:c.2820+6419A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426533.1:n.2820+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2502,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 2502,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "ENST00000635193.1:c.2502+6419A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3369,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 3369,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001190709.1:c.3051+6419A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177638.1:n.3051+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3486,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 3486,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001854.3:c.3168+6419A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001845.3:n.3168+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3522,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 3522,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080629.2:c.3204+6419A="
      ],
      "proteinEffect": {
        "hgvs": "NP_542196.2:n.3204+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3138,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 3138,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080630.3:c.2820+6419A="
      ],
      "proteinEffect": {
        "hgvs": "NP_542197.3:n.2820+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3565,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 3565,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_011540719.1:c.3168+6419A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539021.1:n.3168+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107663"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 1569,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_011540720.1:c.1401+6419A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539022.1:n.1401+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107664"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2502,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 2502,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_011540721.1:c.756+6419A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539023.1:n.756+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3502,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 3502,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NR_134980.1:n.3502+6419A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527909"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3722,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 3722,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000334.1:c.3321+6419A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016855823.1:n.3321+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3716,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 3716,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000335.1:c.3315+6419A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016855824.1:n.3315+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3723,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 3723,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000336.1:c.3321+6419A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016855825.1:n.3321+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556715"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2200,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 2200,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "XM_017000337.1:c.1719+6419A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016855826.1:n.1719+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556716"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3512,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 3512,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001854.4:c.3168+6419A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001845.3:n.3168+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665209",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370096.9:c.3168+6419A="
          },
          "RefSeq": {
            "hgvs": "NM_001854.4:c.3168+6419A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359114.3:n.3168+6419A="
          },
          "RefSeq": {
            "hgvs": "NP_001845.3:n.3168+6419A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3164,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 3164,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080630.4:c.2820+6419A="
      ],
      "proteinEffect": {
        "hgvs": "NP_542197.3:n.2820+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699526"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3528,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 3528,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NR_134980.2:n.3528+6419A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3395,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 3395,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_001190709.2:c.3051+6419A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177638.1:n.3051+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3548,
          "endIntronDirection": "+",
          "endIntronOffset": 6419,
          "referenceAllele": "A",
          "start": 3548,
          "startIntronDirection": "+",
          "startIntronOffset": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080629.3:c.3204+6419A="
      ],
      "proteinEffect": {
        "hgvs": "NP_542196.2:n.3204+6419A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729046"
    }
  ],
  "type": "nucleotide"
}