{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA11930289",
  "communityStandardTitle": [
    "NM_001104631.2(PDE4D):c.809-2683A>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227603[alleleid]",
        "alleleId": 227603,
        "preferredName": "NM_001104631.2(PDE4D):c.809-2683A>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225788",
        "RCV": [
          "RCV002054361"
        ],
        "variationId": 225788
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.58337481T>G?assembly=hg19",
        "id": "chr5:g.58337481T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.59041654T>G?assembly=hg38",
        "id": "chr5:g.59041654T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1353747",
        "rs": 1353747
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-58337481-T-G?dataset=gnomad_r2_1",
        "id": "5-58337481-T-G",
        "variant": "5:58337481 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-59041654-T-G?dataset=gnomad_r3",
        "id": "5-59041654-T-G",
        "variant": "5:59041654 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-59041654-T-G?dataset=gnomad_r4",
        "id": "5-59041654-T-G",
        "variant": "5:59041654 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 59041654,
          "referenceAllele": "T",
          "start": 59041653
        }
      ],
      "hgvs": [
        "NC_000005.10:g.59041654T>G",
        "CM000667.2:g.59041654T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 58337481,
          "referenceAllele": "T",
          "start": 58337480
        }
      ],
      "hgvs": [
        "NC_000005.9:g.58337481T>G",
        "CM000667.1:g.58337481T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 58373238,
          "referenceAllele": "T",
          "start": 58373237
        }
      ],
      "hgvs": [
        "NC_000005.8:g.58373238T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1451445,
          "referenceAllele": "A",
          "start": 1451444
        }
      ],
      "hgvs": [
        "NG_027957.1:g.1451445A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1487676,
          "referenceAllele": "A",
          "start": 1487675
        }
      ],
      "hgvs": [
        "NG_027957.2:g.1487676A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616278"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 955,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 955,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000507116.6:c.617-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424852.1:n.617-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 912,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 912,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000340635.11:c.809-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345502.6:n.809-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340635.11:c.809-2683A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001104631.2:c.809-2683A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345502.6:n.809-2683A>C"
          },
          "RefSeq": {
            "hgvs": "NP_001098101.1:n.809-2683A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 660,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 660,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000636120.1:c.479-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490821.1:n.479-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 660,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 660,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000309641.10:c.661-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308485.6:n.661-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256235"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 984,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 984,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000340635.10:c.809-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345502.6:n.809-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261137"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 524,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 524,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000360047.9:c.401-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353152.5:n.401-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 471,
          "endIntronDirection": "-",
          "endIntronOffset": 48188,
          "referenceAllele": "A",
          "start": 471,
          "startIntronDirection": "-",
          "startIntronOffset": 48189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000405053.7:n.472-48189A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS280236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 571,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 571,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000405755.6:c.443-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384806.2:n.443-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280431"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 849,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 849,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000502484.6:c.626-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423094.2:n.626-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1135,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 1135,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000503258.5:c.419-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425605.1:n.419-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 65,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 65,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000505453.1:c.-98-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421013.1:n.-98-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337241"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 752,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 752,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000507116.5:c.617-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424852.1:n.617-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 449,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 449,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000546160.5:c.416-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442734.2:n.416-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 980,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 980,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001104631.1:c.809-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001098101.1:n.809-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011053"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 871,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001165899.1:c.626-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159371.1:n.626-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 719,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001197218.1:c.617-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184147.1:n.617-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016716"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 497,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 497,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001197219.1:c.443-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184148.1:n.443-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016717"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1135,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 1135,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001197220.1:c.419-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184149.1:n.419-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016718"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 523,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 523,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_006203.4:c.401-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006194.2:n.401-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 493,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 493,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_005248537.2:c.479-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248594.1:n.479-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058477"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1224,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 1224,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_005248538.3:c.401-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248595.1:n.401-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058478"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 960,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 960,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543469.1:c.773-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541771.1:n.773-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 984,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 984,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543470.1:c.773-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541772.1:n.773-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110390"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 837,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 837,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543471.1:c.626-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541773.1:n.626-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 784,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 784,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543472.1:c.626-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541774.1:n.626-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110392"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 785,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 785,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543473.1:c.626-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541775.1:n.626-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 885,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 885,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543474.1:c.596-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541776.1:n.596-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 457,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 457,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543475.1:c.443-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541777.1:n.443-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110395"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 403,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 403,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543476.1:c.389-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541778.1:n.389-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110396"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 382,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 382,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543477.1:c.368-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541779.1:n.368-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110397"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1860,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 1860,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543478.1:c.305-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541780.1:n.305-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 376,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 376,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543479.1:c.305-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541781.1:n.305-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110399"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 838,
          "endIntronDirection": "+",
          "endIntronOffset": 6536,
          "referenceAllele": "T",
          "start": 838,
          "startIntronDirection": "+",
          "startIntronOffset": 6535
        }
      ],
      "hgvs": [
        "XR_948360.1:n.838+6536T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141938"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 944,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 944,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001349241.1:c.596-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336170.1:n.596-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518549"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 893,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001349242.1:c.479-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336171.1:n.479-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518550"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 870,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 870,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001349243.1:c.41-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336172.1:n.41-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518551"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 862,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 862,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001364599.1:c.626-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351528.1:n.626-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 999,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 999,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001364603.1:c.-98-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351532.1:n.-98-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523896"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1576,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 1576,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001364604.1:c.41-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351533.1:n.41-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 884,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 884,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543470.2:c.773-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541772.1:n.773-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 832,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 832,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543471.2:c.626-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541773.1:n.626-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 997,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 997,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_017009565.1:c.773-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865054.1:n.773-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_017009566.1:c.626-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865055.1:n.626-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563829"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 625,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 625,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_017009567.1:c.611-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865056.1:n.611-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563830"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3140,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 3140,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_024446110.1:c.773-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301878.1:n.773-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2993,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 2993,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_024446112.1:c.626-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301880.1:n.626-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579788"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 912,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 912,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001104631.2:c.809-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001098101.1:n.809-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663465",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340635.11:c.809-2683A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001104631.2:c.809-2683A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345502.6:n.809-2683A>C"
          },
          "RefSeq": {
            "hgvs": "NP_001098101.1:n.809-2683A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 838,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 838,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001165899.2:c.626-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159371.1:n.626-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678428"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 955,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 955,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001197218.2:c.617-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184147.1:n.617-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679361"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 566,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 566,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001197219.2:c.443-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184148.1:n.443-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679362"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1131,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 1131,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001197220.2:c.419-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184149.1:n.419-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679363"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 911,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 911,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001349241.2:c.596-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336170.1:n.596-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687898"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 837,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 837,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001349243.2:c.41-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336172.1:n.41-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687899"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 899,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 899,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001349242.2:c.479-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336171.1:n.479-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719266"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 529,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "A",
          "start": 529,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_006203.5:c.401-2683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006194.2:n.401-2683A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727706"
    }
  ],
  "type": "nucleotide"
}