{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2387835698",
  "communityStandardTitle": [
    "NM_001757.4(CBR1):c.397+538T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3787728",
        "rs": 3787728
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 36071595,
          "referenceAllele": "T",
          "start": 36071594
        }
      ],
      "hgvs": [
        "NC_000021.9:g.36071595T=",
        "CM000683.2:g.36071595T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 37443893,
          "referenceAllele": "T",
          "start": 37443892
        }
      ],
      "hgvs": [
        "NC_000021.8:g.37443893T=",
        "CM000683.1:g.37443893T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 36365763,
          "referenceAllele": "T",
          "start": 36365762
        }
      ],
      "hgvs": [
        "NC_000021.7:g.36365763T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "endIntronDirection": "+",
          "endIntronOffset": 538,
          "referenceAllele": "T",
          "start": 489,
          "startIntronDirection": "+",
          "startIntronOffset": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "ENST00000290349.11:c.397+538T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290349.6:n.397+538T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744018",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290349.11:c.397+538T="
          },
          "RefSeq": {
            "hgvs": "NM_001757.4:c.397+538T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290349.6:n.397+538T="
          },
          "RefSeq": {
            "hgvs": "NP_001748.1:n.397+538T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "endIntronDirection": "+",
          "endIntronOffset": 538,
          "referenceAllele": "T",
          "start": 572,
          "startIntronDirection": "+",
          "startIntronOffset": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "ENST00000290349.10:c.397+538T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290349.6:n.397+538T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253643"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 478,
          "endIntronDirection": "+",
          "endIntronOffset": 538,
          "referenceAllele": "T",
          "start": 478,
          "startIntronDirection": "+",
          "startIntronOffset": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "ENST00000399191.3:c.397+538T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382143.3:n.397+538T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85,
          "endIntronDirection": "+",
          "endIntronOffset": 7710,
          "referenceAllele": "A",
          "start": 85,
          "startIntronDirection": "+",
          "startIntronOffset": 7709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001258",
      "geneNCBI_id": 54093,
      "geneSymbol": "SETD4",
      "hgvs": [
        "ENST00000399201.5:c.-203+7710A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382152.1:n.-203+7710A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "endIntronDirection": "-",
          "endIntronOffset": 219,
          "referenceAllele": "T",
          "start": 572,
          "startIntronDirection": "-",
          "startIntronOffset": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "ENST00000530908.5:c.398-220T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434613.1:n.398-220T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "endIntronDirection": "-",
          "endIntronOffset": 219,
          "referenceAllele": "T",
          "start": 589,
          "startIntronDirection": "-",
          "startIntronOffset": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "NM_001286789.1:c.398-220T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001273718.1:n.398-220T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "endIntronDirection": "+",
          "endIntronOffset": 538,
          "referenceAllele": "T",
          "start": 589,
          "startIntronDirection": "+",
          "startIntronOffset": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "NM_001757.3:c.397+538T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001748.1:n.397+538T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 377,
          "endIntronDirection": "-",
          "endIntronOffset": 1109,
          "referenceAllele": "A",
          "start": 377,
          "startIntronDirection": "-",
          "startIntronOffset": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055777",
      "geneNCBI_id": 100133286,
      "geneSymbol": "CBR1-AS1",
      "hgvs": [
        "NR_040084.1:n.378-1110A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "endIntronDirection": "+",
          "endIntronOffset": 538,
          "referenceAllele": "T",
          "start": 489,
          "startIntronDirection": "+",
          "startIntronOffset": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "NM_001757.4:c.397+538T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001748.1:n.397+538T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665155",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290349.11:c.397+538T="
          },
          "RefSeq": {
            "hgvs": "NM_001757.4:c.397+538T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290349.6:n.397+538T="
          },
          "RefSeq": {
            "hgvs": "NP_001748.1:n.397+538T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "endIntronDirection": "-",
          "endIntronOffset": 219,
          "referenceAllele": "T",
          "start": 489,
          "startIntronDirection": "-",
          "startIntronOffset": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "NM_001286789.2:c.398-220T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001273718.1:n.398-220T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682328"
    }
  ],
  "type": "nucleotide"
}