{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA228113823",
  "communityStandardTitle": [
    "NM_014361.4(CNTN5):c.2620+3409A>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.100173537A>G?assembly=hg19",
        "id": "chr11:g.100173537A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.100302805A>G?assembly=hg38",
        "id": "chr11:g.100302805A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11223581",
        "rs": 11223581
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-100173537-A-G?dataset=gnomad_r2_1",
        "id": "11-100173537-A-G",
        "variant": "11:100173537 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-100302805-A-G?dataset=gnomad_r3",
        "id": "11-100302805-A-G",
        "variant": "11:100302805 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-100302805-A-G?dataset=gnomad_r4",
        "id": "11-100302805-A-G",
        "variant": "11:100302805 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 100302805,
          "referenceAllele": "A",
          "start": 100302804
        }
      ],
      "hgvs": [
        "NC_000011.10:g.100302805A>G",
        "CM000673.2:g.100302805A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 100173537,
          "referenceAllele": "A",
          "start": 100173536
        }
      ],
      "hgvs": [
        "NC_000011.9:g.100173537A>G",
        "CM000673.1:g.100173537A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 99678747,
          "referenceAllele": "A",
          "start": 99678746
        }
      ],
      "hgvs": [
        "NC_000011.8:g.99678747A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1286830,
          "referenceAllele": "A",
          "start": 1286829
        }
      ],
      "hgvs": [
        "NG_047156.1:g.1286830A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616675"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3151,
          "endIntronDirection": "+",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 3151,
          "startIntronDirection": "+",
          "startIntronOffset": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "ENST00000524871.6:c.2620+3409A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435637.1:n.2620+3409A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000524871.6:c.2620+3409A>G"
          },
          "RefSeq": {
            "hgvs": "NM_014361.4:c.2620+3409A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000435637.1:n.2620+3409A>G"
          },
          "RefSeq": {
            "hgvs": "NP_055176.1:n.2620+3409A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2577,
          "endIntronDirection": "+",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 2577,
          "startIntronDirection": "+",
          "startIntronOffset": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "ENST00000279463.7:c.2572+3409A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000279463.4:n.2572+3409A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252889"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2474,
          "endIntronDirection": "+",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 2474,
          "startIntronDirection": "+",
          "startIntronOffset": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "ENST00000418526.6:c.2398+3409A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393229.2:n.2398+3409A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 868,
          "endIntronDirection": "+",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 868,
          "startIntronDirection": "+",
          "startIntronOffset": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "ENST00000524560.1:n.868+3409A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2910,
          "endIntronDirection": "+",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 2910,
          "startIntronDirection": "+",
          "startIntronOffset": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "ENST00000524871.5:c.2620+3409A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435637.1:n.2620+3409A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350968"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2959,
          "endIntronDirection": "+",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 2959,
          "startIntronDirection": "+",
          "startIntronOffset": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "ENST00000527185.5:c.2620+3409A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433575.1:n.2620+3409A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2771,
          "endIntronDirection": "+",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 2771,
          "startIntronDirection": "+",
          "startIntronOffset": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "ENST00000528682.5:c.2620+3409A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436185.1:n.2620+3409A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354187"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2386,
          "endIntronDirection": "+",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 2386,
          "startIntronDirection": "+",
          "startIntronOffset": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "ENST00000619298.1:c.2386+3409A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478120.1:n.2386+3409A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404322"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2985,
          "endIntronDirection": "+",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 2985,
          "startIntronDirection": "+",
          "startIntronOffset": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "NM_001243270.1:c.2620+3409A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230199.1:n.2620+3409A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018476"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3124,
          "endIntronDirection": "+",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 3124,
          "startIntronDirection": "+",
          "startIntronOffset": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "NM_001243271.1:c.2620+3409A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230200.1:n.2620+3409A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018477"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3124,
          "endIntronDirection": "+",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 3124,
          "startIntronDirection": "+",
          "startIntronOffset": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "NM_014361.3:c.2620+3409A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055176.1:n.2620+3409A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033113"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2468,
          "endIntronDirection": "+",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 2468,
          "startIntronDirection": "+",
          "startIntronOffset": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "NM_175566.2:c.2398+3409A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_780775.1:n.2398+3409A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2902,
          "endIntronDirection": "+",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 2902,
          "startIntronDirection": "+",
          "startIntronOffset": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "XM_011542871.1:c.2398+3409A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541173.1:n.2398+3409A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3292,
          "endIntronDirection": "+",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 3292,
          "startIntronDirection": "+",
          "startIntronOffset": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "XM_017017926.1:c.2620+3409A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873415.1:n.2620+3409A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3003,
          "endIntronDirection": "+",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 3003,
          "startIntronDirection": "+",
          "startIntronOffset": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "XR_001747909.1:n.3003+3409A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595995"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3151,
          "endIntronDirection": "+",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 3151,
          "startIntronDirection": "+",
          "startIntronOffset": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "NM_014361.4:c.2620+3409A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055176.1:n.2620+3409A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668307",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000524871.6:c.2620+3409A>G"
          },
          "RefSeq": {
            "hgvs": "NM_014361.4:c.2620+3409A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000435637.1:n.2620+3409A>G"
          },
          "RefSeq": {
            "hgvs": "NP_055176.1:n.2620+3409A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3012,
          "endIntronDirection": "+",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 3012,
          "startIntronDirection": "+",
          "startIntronOffset": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "NM_001243270.2:c.2620+3409A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230199.1:n.2620+3409A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3151,
          "endIntronDirection": "+",
          "endIntronOffset": 3409,
          "referenceAllele": "A",
          "start": 3151,
          "startIntronDirection": "+",
          "startIntronOffset": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "NM_001243271.2:c.2620+3409A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230200.1:n.2620+3409A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680212"
    }
  ],
  "type": "nucleotide"
}