{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1619892431",
  "communityStandardTitle": [
    "NM_080680.3(COL11A2):c.4392+1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/750995470",
        "rs": 750995470
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 33166512,
          "referenceAllele": "C",
          "start": 33166511
        }
      ],
      "hgvs": [
        "NC_000006.12:g.33166512C=",
        "CM000668.2:g.33166512C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 33134289,
          "referenceAllele": "C",
          "start": 33134288
        }
      ],
      "hgvs": [
        "NC_000006.11:g.33134289C=",
        "CM000668.1:g.33134289C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 33242267,
          "referenceAllele": "C",
          "start": 33242266
        }
      ],
      "hgvs": [
        "NC_000006.10:g.33242267C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30957,
          "referenceAllele": "G",
          "start": 30956
        }
      ],
      "hgvs": [
        "NG_011589.1:g.30957G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001838"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "endIntronDirection": "+",
          "endIntronOffset": 279,
          "referenceAllele": "G",
          "start": 234,
          "startIntronDirection": "+",
          "startIntronOffset": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000683572.1:n.234+279G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4619,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4619,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000341947.7:c.4392+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339915.2:n.4392+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748030",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341947.7:c.4392+1G="
          },
          "RefSeq": {
            "hgvs": "NM_080680.3:c.4392+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339915.2:n.4392+1G="
          },
          "RefSeq": {
            "hgvs": "NP_542411.2:n.4392+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4620,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4620,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000341947.6:c.4392+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339915.2:n.4392+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261444"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4299,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4299,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000361917.5:c.4071+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355123.1:n.4071+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265710"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4393,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4393,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000374708.8:c.4134+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363840.4:n.4134+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270371"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 272,
          "endIntronDirection": "-",
          "endIntronOffset": 695,
          "referenceAllele": "G",
          "start": 272,
          "startIntronDirection": "-",
          "startIntronOffset": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000477772.1:n.273-696G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318515"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4299,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4299,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080679.2:c.4071+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_542410.2:n.4071+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040241"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4620,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4620,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080680.2:c.4392+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_542411.2:n.4392+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4362,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4362,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080681.2:c.4134+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_542412.2:n.4134+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4438,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4438,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514298.1:c.3546+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512600.1:n.3546+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081523"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3914,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3914,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514299.1:c.3678+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512601.1:n.3678+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081524"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3734,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3734,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514300.1:c.3498+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512602.1:n.3498+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081525"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3671,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3671,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514301.1:c.3435+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512603.1:n.3435+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081526"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3913,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3913,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514302.1:c.3279+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512604.1:n.3279+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3911,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3911,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514299.2:c.3678+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512601.1:n.3678+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543262"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3731,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3731,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514300.2:c.3498+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512602.1:n.3498+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3932,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3932,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514302.2:c.3279+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512604.1:n.3279+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4885,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4885,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_017010250.1:c.4392+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865739.1:n.4392+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3774,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3774,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_017010251.2:c.3210+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865740.1:n.3210+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4619,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4619,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080680.3:c.4392+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_542411.2:n.4392+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699534",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341947.7:c.4392+1G="
          },
          "RefSeq": {
            "hgvs": "NM_080680.3:c.4392+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339915.2:n.4392+1G="
          },
          "RefSeq": {
            "hgvs": "NP_542411.2:n.4392+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4361,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4361,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080681.3:c.4134+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_542412.2:n.4134+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4298,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4298,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080679.3:c.4071+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_542410.2:n.4071+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729056"
    }
  ],
  "type": "nucleotide"
}