{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA251902",
  "communityStandardTitle": [
    "NM_014780.5(CUL7):c.1570-3C>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16658[alleleid]",
        "alleleId": 16658,
        "preferredName": "NM_014780.5(CUL7):c.1570-3C>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1619",
        "RCV": [
          "RCV000001686"
        ],
        "variationId": 1619
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43017403G>T?assembly=hg19",
        "id": "chr6:g.43017403G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43049665G>T?assembly=hg38",
        "id": "chr6:g.43049665G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/730880263",
        "rs": 730880263
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43049665,
          "referenceAllele": "G",
          "start": 43049664
        }
      ],
      "hgvs": [
        "NC_000006.12:g.43049665G>T",
        "CM000668.2:g.43049665G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43017403,
          "referenceAllele": "G",
          "start": 43017402
        }
      ],
      "hgvs": [
        "NC_000006.11:g.43017403G>T",
        "CM000668.1:g.43017403G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43125381,
          "referenceAllele": "G",
          "start": 43125380
        }
      ],
      "hgvs": [
        "NC_000006.10:g.43125381G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9281,
          "referenceAllele": "C",
          "start": 9280
        }
      ],
      "hgvs": [
        "NG_016205.1:g.9281C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1852,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1852,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674112.2:c.1570-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501166.2:n.1570-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2249,
          "referenceAllele": "C",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000683160.1:n.2249C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2008,
          "referenceAllele": "C",
          "start": 2007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000683493.1:n.2008C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1852,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1852,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000685042.1:c.1570-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509871.1:n.1570-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1852,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1852,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000686442.1:n.1853-3C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1903,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1903,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000687225.1:c.1666-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509364.1:n.1666-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830985"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1852,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1852,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000688302.1:n.1853-3C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1673,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1673,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000688707.1:c.1666-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510608.1:n.1666-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1868,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1868,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000689256.1:n.1869-3C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1769,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1769,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000690231.1:c.1570-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508461.1:n.1570-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1807,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000265348.9:c.1570-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265348.4:n.1570-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742823",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265348.9:c.1570-3C>A"
          },
          "RefSeq": {
            "hgvs": "NM_014780.5:c.1570-3C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265348.4:n.1570-3C>A"
          },
          "RefSeq": {
            "hgvs": "NP_055595.2:n.1570-3C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1903,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1903,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000673753.1:n.1904-3C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773844"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1995,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1995,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674100.1:c.1666-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501292.1:n.1666-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 61,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 61,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674112.1:c.62-3C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1853,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1853,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674134.1:c.1666-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501068.1:n.1666-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1655,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1655,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000265348.7:c.1570-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265348.3:n.1570-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 799,
          "endIntronDirection": "+",
          "endIntronOffset": 6157,
          "referenceAllele": "G",
          "start": 799,
          "startIntronDirection": "+",
          "startIntronOffset": 6156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021624",
      "geneNCBI_id": 89953,
      "geneSymbol": "KLC4",
      "hgvs": [
        "ENST00000467906.5:c.-553+6157G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418759.1:n.-553+6157G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS310946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1908,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1908,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000535468.1:c.1822-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438788.1:n.1822-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1908,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1908,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001168370.1:c.1822-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161842.1:n.1822-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015097"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1901,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1901,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_014780.4:c.1570-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055595.2:n.1570-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1761,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1761,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_005249503.1:c.1726-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249560.1:n.1726-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2002,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 2002,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_006715285.1:c.1666-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715348.1:n.1666-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1857,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1857,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515019.1:c.1822-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513321.1:n.1822-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082239"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1761,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1761,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515020.1:c.1726-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513322.1:n.1726-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1763,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1763,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_005249503.3:c.1726-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249560.1:n.1726-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1997,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1997,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_006715285.2:c.1666-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715348.1:n.1666-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1859,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1859,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515019.2:c.1822-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513321.1:n.1822-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1762,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1762,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515020.2:c.1726-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513322.1:n.1726-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543563"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1887,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1887,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011533.1:c.1849-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867022.1:n.1849-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1886,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1886,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011534.1:c.1849-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867023.1:n.1849-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565366"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1790,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1790,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011535.1:c.1753-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867024.1:n.1753-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2024,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 2024,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011536.2:c.1693-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867025.1:n.1693-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1997,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1997,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011537.2:c.1666-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867026.1:n.1666-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1928,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1928,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011538.2:c.1597-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867027.1:n.1597-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1901,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1901,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011539.2:c.1570-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867028.1:n.1570-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1892,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1892,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011540.1:c.1849-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867029.1:n.1849-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1814,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1814,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001168370.2:c.1666-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161842.2:n.1666-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678585"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1903,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1903,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001374872.1:c.1666-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361801.1:n.1666-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1807,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001374873.1:c.1570-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361802.1:n.1570-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693422"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1807,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001374874.1:c.1570-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361803.1:n.1570-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1807,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_014780.5:c.1570-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055595.2:n.1570-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265348.9:c.1570-3C>A"
          },
          "RefSeq": {
            "hgvs": "NM_014780.5:c.1570-3C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265348.4:n.1570-3C>A"
          },
          "RefSeq": {
            "hgvs": "NP_055595.2:n.1570-3C>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}