{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1995110829",
  "communityStandardTitle": [
    "NM_014361.4(CNTN5):c.980+7356A>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12289401",
        "rs": 12289401
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 100009492,
          "referenceAllele": "A",
          "start": 100009491
        }
      ],
      "hgvs": [
        "NC_000011.10:g.100009492A>T",
        "CM000673.2:g.100009492A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 99880224,
          "referenceAllele": "A",
          "start": 99880223
        }
      ],
      "hgvs": [
        "NC_000011.9:g.99880224A>T",
        "CM000673.1:g.99880224A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 99385434,
          "referenceAllele": "A",
          "start": 99385433
        }
      ],
      "hgvs": [
        "NC_000011.8:g.99385434A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 993517,
          "referenceAllele": "A",
          "start": 993516
        }
      ],
      "hgvs": [
        "NG_047156.1:g.993517A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616675"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 1511,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "ENST00000524871.6:c.980+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435637.1:n.980+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000524871.6:c.980+7356A>T"
          },
          "RefSeq": {
            "hgvs": "NM_014361.4:c.980+7356A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000435637.1:n.980+7356A>T"
          },
          "RefSeq": {
            "hgvs": "NP_055176.1:n.980+7356A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 937,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 937,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "ENST00000279463.7:c.932+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000279463.4:n.932+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 834,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "ENST00000418526.6:c.758+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393229.2:n.758+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1270,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 1270,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "ENST00000524871.5:c.980+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435637.1:n.980+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1319,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 1319,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "ENST00000527185.5:c.980+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433575.1:n.980+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1131,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 1131,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "ENST00000528682.5:c.980+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436185.1:n.980+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1484,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 1484,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "ENST00000528727.5:n.1484+7356A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354221"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 746,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 746,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "ENST00000619298.1:c.746+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478120.1:n.746+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1345,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 1345,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "NM_001243270.1:c.980+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230199.1:n.980+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1484,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 1484,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "NM_001243271.1:c.980+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230200.1:n.980+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1484,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 1484,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "NM_014361.3:c.980+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055176.1:n.980+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 828,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 828,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "NM_175566.2:c.758+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_780775.1:n.758+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1262,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 1262,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "XM_011542871.1:c.758+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541173.1:n.758+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1484,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 1484,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "XM_011542872.1:c.980+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541174.1:n.980+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1484,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 1484,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "XM_011542873.1:c.980+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541175.1:n.980+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109802"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1652,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 1652,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "XM_017017926.1:c.980+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873415.1:n.980+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1652,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 1652,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "XM_017017927.1:c.980+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873416.1:n.980+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1417,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 1417,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "XM_017017928.1:c.980+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873417.1:n.980+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1262,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 1262,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "XM_017017929.1:c.758+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873418.1:n.758+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1484,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 1484,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "XR_001747909.1:n.1484+7356A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 1511,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "NM_014361.4:c.980+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055176.1:n.980+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668307",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000524871.6:c.980+7356A>T"
          },
          "RefSeq": {
            "hgvs": "NM_014361.4:c.980+7356A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000435637.1:n.980+7356A>T"
          },
          "RefSeq": {
            "hgvs": "NP_055176.1:n.980+7356A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1372,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 1372,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "NM_001243270.2:c.980+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230199.1:n.980+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "endIntronDirection": "+",
          "endIntronOffset": 7356,
          "referenceAllele": "A",
          "start": 1511,
          "startIntronDirection": "+",
          "startIntronOffset": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002175",
      "geneNCBI_id": 53942,
      "geneSymbol": "CNTN5",
      "hgvs": [
        "NM_001243271.2:c.980+7356A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230200.1:n.980+7356A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680212"
    }
  ],
  "type": "nucleotide"
}