{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1699389181",
  "communityStandardTitle": [
    "NM_207172.2(NPSR1):c.479-7024G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10263447",
        "rs": 10263447
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 34820377,
          "referenceAllele": "G",
          "start": 34820376
        }
      ],
      "hgvs": [
        "NC_000007.14:g.34820377G=",
        "CM000669.2:g.34820377G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 34859989,
          "referenceAllele": "G",
          "start": 34859988
        }
      ],
      "hgvs": [
        "NC_000007.13:g.34859989G=",
        "CM000669.1:g.34859989G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 34826514,
          "referenceAllele": "G",
          "start": 34826513
        }
      ],
      "hgvs": [
        "NC_000007.12:g.34826514G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 167093,
          "referenceAllele": "G",
          "start": 167092
        }
      ],
      "hgvs": [
        "NG_012185.1:g.167093G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002268"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18955,
          "referenceAllele": "C",
          "start": 18954
        }
      ],
      "hgvs": [
        "NG_021366.1:g.18955C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 167093,
          "referenceAllele": "G",
          "start": 167092
        }
      ],
      "hgvs": [
        "NG_012185.2:g.167093G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673589"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18955,
          "referenceAllele": "C",
          "start": 18954
        }
      ],
      "hgvs": [
        "NG_021366.2:g.18955C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673715"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 673,
          "endIntronDirection": "-",
          "endIntronOffset": 7023,
          "referenceAllele": "G",
          "start": 673,
          "startIntronDirection": "-",
          "startIntronOffset": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023631",
      "geneNCBI_id": 387129,
      "geneSymbol": "NPSR1",
      "hgvs": [
        "ENST00000360581.6:c.479-7024G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353788.1:n.479-7024G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749336",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360581.6:c.479-7024G="
          },
          "RefSeq": {
            "hgvs": "NM_207172.2:c.479-7024G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353788.1:n.479-7024G="
          },
          "RefSeq": {
            "hgvs": "NP_997055.1:n.479-7024G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 606,
          "endIntronDirection": "-",
          "endIntronOffset": 7023,
          "referenceAllele": "G",
          "start": 606,
          "startIntronDirection": "-",
          "startIntronOffset": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023631",
      "geneNCBI_id": 387129,
      "geneSymbol": "NPSR1",
      "hgvs": [
        "ENST00000359791.5:c.479-7024G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352839.1:n.479-7024G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264909"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 606,
          "endIntronDirection": "-",
          "endIntronOffset": 7023,
          "referenceAllele": "G",
          "start": 606,
          "startIntronDirection": "-",
          "startIntronOffset": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023631",
      "geneNCBI_id": 387129,
      "geneSymbol": "NPSR1",
      "hgvs": [
        "ENST00000360581.5:c.479-7024G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353788.1:n.479-7024G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265181"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 482,
          "endIntronDirection": "-",
          "endIntronOffset": 7023,
          "referenceAllele": "G",
          "start": 482,
          "startIntronDirection": "-",
          "startIntronOffset": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023631",
      "geneNCBI_id": 387129,
      "geneSymbol": "NPSR1",
      "hgvs": [
        "ENST00000381539.3:c.479-7024G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370950.3:n.479-7024G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 408,
          "endIntronDirection": "-",
          "endIntronOffset": 7023,
          "referenceAllele": "G",
          "start": 408,
          "startIntronDirection": "-",
          "startIntronOffset": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023631",
      "geneNCBI_id": 387129,
      "geneSymbol": "NPSR1",
      "hgvs": [
        "ENST00000381542.5:c.281-7024G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370953.1:n.281-7024G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 502,
          "endIntronDirection": "-",
          "endIntronOffset": 7023,
          "referenceAllele": "G",
          "start": 502,
          "startIntronDirection": "-",
          "startIntronOffset": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023631",
      "geneNCBI_id": 387129,
      "geneSymbol": "NPSR1",
      "hgvs": [
        "ENST00000381544.6:c.375-7024G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370955.2:n.375-7024G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 512,
          "endIntronDirection": "-",
          "endIntronOffset": 7023,
          "referenceAllele": "G",
          "start": 512,
          "startIntronDirection": "-",
          "startIntronOffset": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023631",
      "geneNCBI_id": 387129,
      "geneSymbol": "NPSR1",
      "hgvs": [
        "ENST00000396095.6:c.385-7024G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379402.2:n.385-7024G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277092"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 573,
          "endIntronDirection": "-",
          "endIntronOffset": 7023,
          "referenceAllele": "G",
          "start": 573,
          "startIntronDirection": "-",
          "startIntronOffset": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023631",
      "geneNCBI_id": 387129,
      "geneSymbol": "NPSR1",
      "hgvs": [
        "ENST00000531252.5:c.446-7024G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433258.1:n.446-7024G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356376"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 619,
          "endIntronDirection": "-",
          "endIntronOffset": 7023,
          "referenceAllele": "G",
          "start": 619,
          "startIntronDirection": "-",
          "startIntronOffset": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023631",
      "geneNCBI_id": 387129,
      "geneSymbol": "NPSR1",
      "hgvs": [
        "NM_001300933.1:c.446-7024G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001287862.1:n.446-7024G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024972"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 454,
          "endIntronDirection": "-",
          "endIntronOffset": 7023,
          "referenceAllele": "G",
          "start": 454,
          "startIntronDirection": "-",
          "startIntronOffset": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023631",
      "geneNCBI_id": 387129,
      "geneSymbol": "NPSR1",
      "hgvs": [
        "NM_001300934.1:c.281-7024G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001287863.1:n.281-7024G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024973"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "endIntronDirection": "-",
          "endIntronOffset": 7023,
          "referenceAllele": "G",
          "start": 652,
          "startIntronDirection": "-",
          "startIntronOffset": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023631",
      "geneNCBI_id": 387129,
      "geneSymbol": "NPSR1",
      "hgvs": [
        "NM_001300935.1:c.479-7024G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001287864.1:n.479-7024G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024974"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 606,
          "endIntronDirection": "-",
          "endIntronOffset": 7023,
          "referenceAllele": "G",
          "start": 606,
          "startIntronDirection": "-",
          "startIntronOffset": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023631",
      "geneNCBI_id": 387129,
      "geneSymbol": "NPSR1",
      "hgvs": [
        "NM_207172.1:c.479-7024G="
      ],
      "proteinEffect": {
        "hgvs": "NP_997055.1:n.479-7024G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 606,
          "endIntronDirection": "-",
          "endIntronOffset": 7023,
          "referenceAllele": "G",
          "start": 606,
          "startIntronDirection": "-",
          "startIntronOffset": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023631",
      "geneNCBI_id": 387129,
      "geneSymbol": "NPSR1",
      "hgvs": [
        "NM_207173.1:c.479-7024G="
      ],
      "proteinEffect": {
        "hgvs": "NP_997056.1:n.479-7024G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045409"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 171,
          "endIntronDirection": "+",
          "endIntronOffset": 13784,
          "referenceAllele": "C",
          "start": 171,
          "startIntronDirection": "+",
          "startIntronOffset": 13783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022128",
      "geneNCBI_id": 404744,
      "geneSymbol": "NPSR1-AS1",
      "hgvs": [
        "NR_015356.2:n.171+13784C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 640,
          "endIntronDirection": "-",
          "endIntronOffset": 7023,
          "referenceAllele": "G",
          "start": 640,
          "startIntronDirection": "-",
          "startIntronOffset": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023631",
      "geneNCBI_id": 387129,
      "geneSymbol": "NPSR1",
      "hgvs": [
        "NM_001300933.2:c.446-7024G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001287862.1:n.446-7024G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 673,
          "endIntronDirection": "-",
          "endIntronOffset": 7023,
          "referenceAllele": "G",
          "start": 673,
          "startIntronDirection": "-",
          "startIntronOffset": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023631",
      "geneNCBI_id": 387129,
      "geneSymbol": "NPSR1",
      "hgvs": [
        "NM_207172.2:c.479-7024G="
      ],
      "proteinEffect": {
        "hgvs": "NP_997055.1:n.479-7024G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701740",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360581.6:c.479-7024G="
          },
          "RefSeq": {
            "hgvs": "NM_207172.2:c.479-7024G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353788.1:n.479-7024G="
          },
          "RefSeq": {
            "hgvs": "NP_997055.1:n.479-7024G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 673,
          "endIntronDirection": "-",
          "endIntronOffset": 7023,
          "referenceAllele": "G",
          "start": 673,
          "startIntronDirection": "-",
          "startIntronOffset": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023631",
      "geneNCBI_id": 387129,
      "geneSymbol": "NPSR1",
      "hgvs": [
        "NM_207173.2:c.479-7024G="
      ],
      "proteinEffect": {
        "hgvs": "NP_997056.1:n.479-7024G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 475,
          "endIntronDirection": "-",
          "endIntronOffset": 7023,
          "referenceAllele": "G",
          "start": 475,
          "startIntronDirection": "-",
          "startIntronOffset": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023631",
      "geneNCBI_id": 387129,
      "geneSymbol": "NPSR1",
      "hgvs": [
        "NM_001300934.2:c.281-7024G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001287863.1:n.281-7024G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716910"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 673,
          "endIntronDirection": "-",
          "endIntronOffset": 7023,
          "referenceAllele": "G",
          "start": 673,
          "startIntronDirection": "-",
          "startIntronOffset": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023631",
      "geneNCBI_id": 387129,
      "geneSymbol": "NPSR1",
      "hgvs": [
        "NM_001300935.2:c.479-7024G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001287864.1:n.479-7024G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716911"
    }
  ],
  "type": "nucleotide"
}