{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA168646711",
  "communityStandardTitle": [
    "NM_014141.6(CNTNAP2):c.208+18084A>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.146489557A>C?assembly=hg19",
        "id": "chr7:g.146489557A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.146792465A>C?assembly=hg38",
        "id": "chr7:g.146792465A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/145854497",
        "rs": 145854497
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-146792465-A-C?dataset=gnomad_r3",
        "id": "7-146792465-A-C",
        "variant": "7:146792465 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-146792465-A-C?dataset=gnomad_r4",
        "id": "7-146792465-A-C",
        "variant": "7:146792465 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 146792465,
          "referenceAllele": "A",
          "start": 146792464
        }
      ],
      "hgvs": [
        "NC_000007.14:g.146792465A>C",
        "CM000669.2:g.146792465A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 146489557,
          "referenceAllele": "A",
          "start": 146489556
        }
      ],
      "hgvs": [
        "NC_000007.13:g.146489557A>C",
        "CM000669.1:g.146489557A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 146120490,
          "referenceAllele": "A",
          "start": 146120489
        }
      ],
      "hgvs": [
        "NC_000007.12:g.146120490A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 681105,
          "referenceAllele": "A",
          "start": 681104
        }
      ],
      "hgvs": [
        "NG_007092.2:g.681105A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000472"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 681465,
          "referenceAllele": "A",
          "start": 681464
        }
      ],
      "hgvs": [
        "NG_007092.3:g.681465A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673478"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 18084,
          "referenceAllele": "A",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 18083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000361727.8:c.208+18084A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354778.3:n.208+18084A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749527",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361727.8:c.208+18084A>C"
          },
          "RefSeq": {
            "hgvs": "NM_014141.6:c.208+18084A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354778.3:n.208+18084A>C"
          },
          "RefSeq": {
            "hgvs": "NP_054860.1:n.208+18084A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 111,
          "endIntronDirection": "+",
          "endIntronOffset": 18084,
          "referenceAllele": "A",
          "start": 111,
          "startIntronDirection": "+",
          "startIntronOffset": 18083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000636561.1:n.111+18084A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 137,
          "endIntronDirection": "+",
          "endIntronOffset": 18084,
          "referenceAllele": "A",
          "start": 137,
          "startIntronDirection": "+",
          "startIntronOffset": 18083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000637150.1:n.137+18084A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 111,
          "endIntronDirection": "+",
          "endIntronOffset": 18084,
          "referenceAllele": "A",
          "start": 111,
          "startIntronDirection": "+",
          "startIntronOffset": 18083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000637694.1:n.111+18084A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 111,
          "endIntronDirection": "+",
          "endIntronOffset": 18084,
          "referenceAllele": "A",
          "start": 111,
          "startIntronDirection": "+",
          "startIntronOffset": 18083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000638117.1:n.111+18084A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 726,
          "endIntronDirection": "+",
          "endIntronOffset": 18084,
          "referenceAllele": "A",
          "start": 726,
          "startIntronDirection": "+",
          "startIntronOffset": 18083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000361727.7:c.208+18084A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354778.3:n.208+18084A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 525,
          "endIntronDirection": "+",
          "endIntronOffset": 18084,
          "referenceAllele": "A",
          "start": 525,
          "startIntronDirection": "+",
          "startIntronOffset": 18083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000625365.2:c.208+18084A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485955.1:n.208+18084A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "endIntronDirection": "+",
          "endIntronOffset": 18084,
          "referenceAllele": "A",
          "start": 724,
          "startIntronDirection": "+",
          "startIntronOffset": 18083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "NM_014141.5:c.208+18084A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_054860.1:n.208+18084A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 18084,
          "referenceAllele": "A",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 18083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "XM_017011950.2:c.208+18084A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867439.1:n.208+18084A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 18084,
          "referenceAllele": "A",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 18083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "NM_014141.6:c.208+18084A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_054860.1:n.208+18084A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361727.8:c.208+18084A>C"
          },
          "RefSeq": {
            "hgvs": "NM_014141.6:c.208+18084A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354778.3:n.208+18084A>C"
          },
          "RefSeq": {
            "hgvs": "NP_054860.1:n.208+18084A>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}