{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10808352",
  "communityStandardTitle": [
    "NM_002303.6(LEPR):c.-21+6920G>A",
    "NM_017526.5(LEPROT):c.*379G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.65897981G>A?assembly=hg19",
        "id": "chr1:g.65897981G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.65432298G>A?assembly=hg38",
        "id": "chr1:g.65432298G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1045895",
        "rs": 1045895
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-65897981-G-A?dataset=gnomad_r2_1",
        "id": "1-65897981-G-A",
        "variant": "1:65897981 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-65432298-G-A?dataset=gnomad_r3",
        "id": "1-65432298-G-A",
        "variant": "1:65432298 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-65432298-G-A?dataset=gnomad_r4",
        "id": "1-65432298-G-A",
        "variant": "1:65432298 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 65432298,
          "referenceAllele": "G",
          "start": 65432297
        }
      ],
      "hgvs": [
        "NC_000001.11:g.65432298G>A",
        "CM000663.2:g.65432298G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 65897981,
          "referenceAllele": "G",
          "start": 65897980
        }
      ],
      "hgvs": [
        "NC_000001.10:g.65897981G>A",
        "CM000663.1:g.65897981G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 65670569,
          "referenceAllele": "G",
          "start": 65670568
        }
      ],
      "hgvs": [
        "NC_000001.9:g.65670569G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16734,
          "referenceAllele": "G",
          "start": 16733
        }
      ],
      "hgvs": [
        "NG_015831.2:g.16734G>A",
        "LRG_283:g.16734G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002863"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 149,
          "endIntronDirection": "+",
          "endIntronOffset": 6920,
          "referenceAllele": "G",
          "start": 149,
          "startIntronDirection": "+",
          "startIntronOffset": 6919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "ENST00000349533.11:c.-21+6920G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330393.7:n.-21+6920G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748408",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000349533.11:c.-21+6920G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002303.6:c.-21+6920G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000330393.7:n.-21+6920G>A"
          },
          "RefSeq": {
            "hgvs": "NP_002294.2:n.-21+6920G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029477",
      "geneNCBI_id": 54741,
      "geneSymbol": "LEPROT",
      "hgvs": [
        "ENST00000371065.9:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360104.4:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371065.9:c.*379G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017526.5:c.*379G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360104.4:n.*379G>A"
          },
          "RefSeq": {
            "hgvs": "NP_059996.1:n.*379G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "endIntronDirection": "+",
          "endIntronOffset": 6920,
          "referenceAllele": "G",
          "start": 165,
          "startIntronDirection": "+",
          "startIntronOffset": 6919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "ENST00000349533.10:c.-21+6920G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330393.6:n.-21+6920G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "endIntronDirection": "+",
          "endIntronOffset": 6920,
          "referenceAllele": "G",
          "start": 165,
          "startIntronDirection": "+",
          "startIntronOffset": 6919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "ENST00000371059.7:c.-21+6920G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360098.3:n.-21+6920G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "endIntronDirection": "+",
          "endIntronOffset": 6920,
          "referenceAllele": "G",
          "start": 165,
          "startIntronDirection": "+",
          "startIntronOffset": 6919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "ENST00000371060.7:c.-21+6920G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360099.3:n.-21+6920G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 913,
          "referenceAllele": "G",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029477",
      "geneNCBI_id": 54741,
      "geneSymbol": "LEPROT",
      "hgvs": [
        "ENST00000371065.8:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360104.4:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268392"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 97,
          "endIntronDirection": "+",
          "endIntronOffset": 6920,
          "referenceAllele": "G",
          "start": 97,
          "startIntronDirection": "+",
          "startIntronOffset": 6919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "ENST00000406510.7:c.-641+6920G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384025.3:n.-641+6920G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280657"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 916,
          "referenceAllele": "G",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029477",
      "geneNCBI_id": 54741,
      "geneSymbol": "LEPROT",
      "hgvs": [
        "ENST00000613538.1:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483521.1:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401791"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "endIntronDirection": "+",
          "endIntronOffset": 6920,
          "referenceAllele": "G",
          "start": 165,
          "startIntronDirection": "+",
          "startIntronOffset": 6919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "NM_001003679.3:c.-21+6920G>A",
        "LRG_283t1:c.-21+6920G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001003679.1:n.-21+6920G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "endIntronDirection": "+",
          "endIntronOffset": 6920,
          "referenceAllele": "G",
          "start": 165,
          "startIntronDirection": "+",
          "startIntronOffset": 6919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "NM_001003680.3:c.-21+6920G>A",
        "LRG_283t2:c.-21+6920G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001003680.1:n.-21+6920G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007324"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 916,
          "referenceAllele": "G",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029477",
      "geneNCBI_id": 54741,
      "geneSymbol": "LEPROT",
      "hgvs": [
        "NM_001198681.1:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185610.1:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016822"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "endIntronDirection": "+",
          "endIntronOffset": 6920,
          "referenceAllele": "G",
          "start": 165,
          "startIntronDirection": "+",
          "startIntronOffset": 6919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "NM_002303.5:c.-21+6920G>A",
        "LRG_283t3:c.-21+6920G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002294.2:n.-21+6920G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1052,
          "referenceAllele": "G",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029477",
      "geneNCBI_id": 54741,
      "geneSymbol": "LEPROT",
      "hgvs": [
        "NM_017526.4:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_059996.1:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029477",
      "geneNCBI_id": 54741,
      "geneSymbol": "LEPROT",
      "hgvs": [
        "NM_017526.5:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_059996.1:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669262",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371065.9:c.*379G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017526.5:c.*379G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360104.4:n.*379G>A"
          },
          "RefSeq": {
            "hgvs": "NP_059996.1:n.*379G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 149,
          "endIntronDirection": "+",
          "endIntronOffset": 6920,
          "referenceAllele": "G",
          "start": 149,
          "startIntronDirection": "+",
          "startIntronOffset": 6919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "NM_002303.6:c.-21+6920G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002294.2:n.-21+6920G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695507",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000349533.11:c.-21+6920G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002303.6:c.-21+6920G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000330393.7:n.-21+6920G>A"
          },
          "RefSeq": {
            "hgvs": "NP_002294.2:n.-21+6920G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029477",
      "geneNCBI_id": 54741,
      "geneSymbol": "LEPROT",
      "hgvs": [
        "NM_001198681.2:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185610.1:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713896"
    }
  ],
  "type": "nucleotide"
}