{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1730843259",
  "communityStandardTitle": [
    "NM_005045.4(RELN):c.1289+3639G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2073559",
        "rs": 2073559
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 103678477,
          "referenceAllele": "C",
          "start": 103678476
        }
      ],
      "hgvs": [
        "NC_000007.14:g.103678477C=",
        "CM000669.2:g.103678477C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 103318924,
          "referenceAllele": "C",
          "start": 103318923
        }
      ],
      "hgvs": [
        "NC_000007.13:g.103318924C=",
        "CM000669.1:g.103318924C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 103106160,
          "referenceAllele": "C",
          "start": 103106159
        }
      ],
      "hgvs": [
        "NC_000007.12:g.103106160C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 316040,
          "referenceAllele": "G",
          "start": 316039
        }
      ],
      "hgvs": [
        "NG_011877.1:g.316040G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002040"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 316040,
          "referenceAllele": "G",
          "start": 316039
        }
      ],
      "hgvs": [
        "NG_011877.2:g.316040G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673565"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1449,
          "endIntronDirection": "+",
          "endIntronOffset": 3639,
          "referenceAllele": "G",
          "start": 1449,
          "startIntronDirection": "+",
          "startIntronOffset": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000424685.3:c.1289+3639G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388446.3:n.1289+3639G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1591,
          "endIntronDirection": "+",
          "endIntronOffset": 3639,
          "referenceAllele": "G",
          "start": 1591,
          "startIntronDirection": "+",
          "startIntronOffset": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000428762.6:c.1289+3639G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392423.1:n.1289+3639G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755239",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000428762.6:c.1289+3639G="
          },
          "RefSeq": {
            "hgvs": "NM_005045.4:c.1289+3639G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000392423.1:n.1289+3639G="
          },
          "RefSeq": {
            "hgvs": "NP_005036.2:n.1289+3639G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1553,
          "endIntronDirection": "+",
          "endIntronOffset": 3639,
          "referenceAllele": "G",
          "start": 1553,
          "startIntronDirection": "+",
          "startIntronOffset": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000473457.2:n.1553+3639G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1173,
          "endIntronDirection": "+",
          "endIntronOffset": 3639,
          "referenceAllele": "G",
          "start": 1173,
          "startIntronDirection": "+",
          "startIntronOffset": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000679867.1:n.1173+3639G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779489"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1006,
          "endIntronDirection": "+",
          "endIntronOffset": 3639,
          "referenceAllele": "G",
          "start": 1006,
          "startIntronDirection": "+",
          "startIntronOffset": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000680712.1:n.1006+3639G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780327"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1449,
          "endIntronDirection": "+",
          "endIntronOffset": 3639,
          "referenceAllele": "G",
          "start": 1449,
          "startIntronDirection": "+",
          "startIntronOffset": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000681034.1:c.1289+3639G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506075.1:n.1289+3639G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780647"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1173,
          "endIntronDirection": "+",
          "endIntronOffset": 3639,
          "referenceAllele": "G",
          "start": 1173,
          "startIntronDirection": "+",
          "startIntronOffset": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000681931.1:n.1173+3639G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1449,
          "endIntronDirection": "+",
          "endIntronOffset": 3639,
          "referenceAllele": "G",
          "start": 1449,
          "startIntronDirection": "+",
          "startIntronOffset": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000343529.9:c.1289+3639G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345694.5:n.1289+3639G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261783"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1449,
          "endIntronDirection": "+",
          "endIntronOffset": 3639,
          "referenceAllele": "G",
          "start": 1449,
          "startIntronDirection": "+",
          "startIntronOffset": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000424685.2:c.1289+3639G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388446.2:n.1289+3639G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288387"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1449,
          "endIntronDirection": "+",
          "endIntronOffset": 3639,
          "referenceAllele": "G",
          "start": 1449,
          "startIntronDirection": "+",
          "startIntronOffset": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000428762.5:c.1289+3639G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392423.1:n.1289+3639G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1449,
          "endIntronDirection": "+",
          "endIntronOffset": 3639,
          "referenceAllele": "G",
          "start": 1449,
          "startIntronDirection": "+",
          "startIntronOffset": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "NM_005045.3:c.1289+3639G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005036.2:n.1289+3639G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1449,
          "endIntronDirection": "+",
          "endIntronOffset": 3639,
          "referenceAllele": "G",
          "start": 1449,
          "startIntronDirection": "+",
          "startIntronOffset": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "NM_173054.2:c.1289+3639G="
      ],
      "proteinEffect": {
        "hgvs": "NP_774959.1:n.1289+3639G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042753"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1591,
          "endIntronDirection": "+",
          "endIntronOffset": 3639,
          "referenceAllele": "G",
          "start": 1591,
          "startIntronDirection": "+",
          "startIntronOffset": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "NM_005045.4:c.1289+3639G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005036.2:n.1289+3639G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000428762.6:c.1289+3639G="
          },
          "RefSeq": {
            "hgvs": "NM_005045.4:c.1289+3639G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000392423.1:n.1289+3639G="
          },
          "RefSeq": {
            "hgvs": "NP_005036.2:n.1289+3639G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1591,
          "endIntronDirection": "+",
          "endIntronOffset": 3639,
          "referenceAllele": "G",
          "start": 1591,
          "startIntronDirection": "+",
          "startIntronOffset": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "NM_173054.3:c.1289+3639G="
      ],
      "proteinEffect": {
        "hgvs": "NP_774959.1:n.1289+3639G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729556"
    }
  ],
  "type": "nucleotide"
}