{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10015464",
  "communityStandardTitle": [
    "NM_001757.4(CBR1):c.398-48C>T"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN15314904"
      },
      {
        "active": false,
        "id": "COSN17154093"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/21-37444696-C-T",
        "id": "21-37444696-C-T",
        "variant": "21:37444696 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.37444696C>T?assembly=hg19",
        "id": "chr21:g.37444696C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.36072398C>T?assembly=hg38",
        "id": "chr21:g.36072398C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2835265",
        "rs": 2835265
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-37444696-C-T?dataset=gnomad_r2_1",
        "id": "21-37444696-C-T",
        "variant": "21:37444696 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-36072398-C-T?dataset=gnomad_r3",
        "id": "21-36072398-C-T",
        "variant": "21:36072398 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-36072398-C-T?dataset=gnomad_r4",
        "id": "21-36072398-C-T",
        "variant": "21:36072398 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 36072398,
          "referenceAllele": "C",
          "start": 36072397
        }
      ],
      "hgvs": [
        "NC_000021.9:g.36072398C>T",
        "CM000683.2:g.36072398C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 37444696,
          "referenceAllele": "C",
          "start": 37444695
        }
      ],
      "hgvs": [
        "NC_000021.8:g.37444696C>T",
        "CM000683.1:g.37444696C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 36366566,
          "referenceAllele": "C",
          "start": 36366565
        }
      ],
      "hgvs": [
        "NC_000021.7:g.36366566C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "C",
          "start": 489,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "ENST00000290349.11:c.398-48C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290349.6:n.398-48C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744018",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290349.11:c.398-48C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001757.4:c.398-48C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290349.6:n.398-48C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001748.1:n.398-48C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "C",
          "start": 572,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "ENST00000290349.10:c.398-48C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290349.6:n.398-48C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253643"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 703,
          "referenceAllele": "C",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "ENST00000399191.3:c.622C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382143.3:p.Arg208Trp",
        "hgvsWellDefined": "ENSP00000382143.3:p.Arg208Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85,
          "endIntronDirection": "+",
          "endIntronOffset": 6907,
          "referenceAllele": "G",
          "start": 85,
          "startIntronDirection": "+",
          "startIntronOffset": 6906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001258",
      "geneNCBI_id": 54093,
      "geneSymbol": "SETD4",
      "hgvs": [
        "ENST00000399201.5:c.-203+6907G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382152.1:n.-203+6907G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1156,
          "referenceAllele": "C",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "ENST00000530908.5:c.*459C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434613.1:n.*459C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1173,
          "referenceAllele": "C",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "NM_001286789.1:c.*459C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273718.1:n.*459C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "C",
          "start": 589,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "NM_001757.3:c.398-48C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001748.1:n.398-48C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 377,
          "endIntronDirection": "-",
          "endIntronOffset": 1912,
          "referenceAllele": "G",
          "start": 377,
          "startIntronDirection": "-",
          "startIntronOffset": 1913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055777",
      "geneNCBI_id": 100133286,
      "geneSymbol": "CBR1-AS1",
      "hgvs": [
        "NR_040084.1:n.378-1913G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "C",
          "start": 489,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "NM_001757.4:c.398-48C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001748.1:n.398-48C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665155",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290349.11:c.398-48C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001757.4:c.398-48C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290349.6:n.398-48C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001748.1:n.398-48C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1073,
          "referenceAllele": "C",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001548",
      "geneNCBI_id": 873,
      "geneSymbol": "CBR1",
      "hgvs": [
        "NM_001286789.2:c.*459C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273718.1:n.*459C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682328"
    }
  ],
  "type": "nucleotide"
}