{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3137369",
  "communityStandardTitle": [
    "NM_001199397.3(NEK1):c.2588-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1388077[alleleid]",
        "alleleId": 1388077,
        "preferredName": "NM_001199397.3(NEK1):c.2588-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1474082",
        "RCV": [
          "RCV001971012",
          "RCV002497931"
        ],
        "variationId": 1474082
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-170359412-T-C",
        "id": "4-170359412-T-C",
        "variant": "4:170359412 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.170359412T>C?assembly=hg19",
        "id": "chr4:g.170359412T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.169438261T>C?assembly=hg38",
        "id": "chr4:g.169438261T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201769828",
        "rs": 201769828
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-170359412-T-C?dataset=gnomad_r2_1",
        "id": "4-170359412-T-C",
        "variant": "4:170359412 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-169438261-T-C?dataset=gnomad_r3",
        "id": "4-169438261-T-C",
        "variant": "4:169438261 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-169438261-T-C?dataset=gnomad_r4",
        "id": "4-169438261-T-C",
        "variant": "4:169438261 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 169438261,
          "referenceAllele": "T",
          "start": 169438260
        }
      ],
      "hgvs": [
        "NC_000004.12:g.169438261T>C",
        "CM000666.2:g.169438261T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 170359412,
          "referenceAllele": "T",
          "start": 170359411
        }
      ],
      "hgvs": [
        "NC_000004.11:g.170359412T>C",
        "CM000666.1:g.170359412T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 170595987,
          "referenceAllele": "T",
          "start": 170595986
        }
      ],
      "hgvs": [
        "NC_000004.10:g.170595987T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 179367,
          "referenceAllele": "A",
          "start": 179366
        }
      ],
      "hgvs": [
        "NG_027982.1:g.179367A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004022"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2996,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2996,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000685111.1:c.2420-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508844.1:n.2420-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829888"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1885,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1885,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000685677.1:n.1886-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830199"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2864,
          "endIntronDirection": "-",
          "endIntronOffset": 4595,
          "referenceAllele": "A",
          "start": 2864,
          "startIntronDirection": "-",
          "startIntronOffset": 4596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000686697.1:c.2282-4596A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508689.1:n.2282-4596A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3081,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3081,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000687054.1:n.3082-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830882"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3992,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3992,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000687528.1:c.*1323-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510228.1:n.*1323-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3100,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3100,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000687643.1:c.2531-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509309.1:n.2531-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831193"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1355,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1355,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000688934.1:c.611-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510760.1:n.611-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2037,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2037,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000690540.1:n.2038-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832752"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3121,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3121,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000507142.6:c.2588-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424757.2:n.2588-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758106",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000507142.6:c.2588-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001199397.3:c.2588-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424757.2:n.2588-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001186326.1:n.2588-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 715,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 715,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000638824.1:n.716-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3144,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3144,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000439128.6:c.2504-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408020.2:n.2504-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295273"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3167,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3167,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000507142.5:c.2588-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424757.1:n.2588-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338506"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2983,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2983,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000510533.5:c.2372-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427653.1:n.2372-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3033,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3033,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000511633.5:c.2456-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423332.1:n.2456-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341855"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2874,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2874,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000512193.5:c.2297-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424938.1:n.2297-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3165,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3165,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199397.1:c.2588-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186326.1:n.2588-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017100"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3033,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3033,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199398.1:c.2456-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186327.1:n.2456-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017101"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2874,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2874,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199399.1:c.2297-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186328.1:n.2297-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017102"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3027,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3027,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199400.1:c.2372-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186329.1:n.2372-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017103"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3159,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3159,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_012224.2:c.2504-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036356.1:n.2504-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032409"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3167,
          "endIntronDirection": "-",
          "endIntronOffset": 4595,
          "referenceAllele": "A",
          "start": 3167,
          "startIntronDirection": "-",
          "startIntronOffset": 4596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_006714228.1:c.2588-4596A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714291.1:n.2588-4596A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3083,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3083,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_011532003.1:c.2504-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530305.1:n.2504-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2951,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2951,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_011532004.1:c.2372-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530306.1:n.2372-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099033"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3069,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3069,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008249.1:c.1967-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863738.1:n.1967-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562791"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2985,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2985,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008251.1:c.1883-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863740.1:n.1883-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562792"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2875,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2875,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008252.2:c.1883-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863741.1:n.1883-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3015,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3015,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008253.1:c.1436-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863742.1:n.1436-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2125,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2125,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008254.1:c.1232-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863743.1:n.1232-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562795"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3112,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3112,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_024454065.1:c.1967-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309833.1:n.1967-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2872,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2872,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XR_001741233.1:n.2873-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591266"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3863,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3863,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XR_001741234.2:n.3864-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591267"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3121,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3121,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199397.3:c.2588-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186326.1:n.2588-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679559",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000507142.6:c.2588-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001199397.3:c.2588-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424757.2:n.2588-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001186326.1:n.2588-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2989,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2989,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199398.2:c.2456-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186327.1:n.2456-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2830,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2830,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199399.2:c.2297-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186328.1:n.2297-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679561"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2983,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2983,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199400.2:c.2372-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186329.1:n.2372-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3199,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3199,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001374418.1:c.2588-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361347.1:n.2588-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3037,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3037,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001374419.1:c.2504-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361348.1:n.2504-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693262"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2986,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2986,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001374420.1:c.2453-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361349.1:n.2453-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2815,
          "endIntronDirection": "-",
          "endIntronOffset": 4595,
          "referenceAllele": "A",
          "start": 2815,
          "startIntronDirection": "-",
          "startIntronOffset": 4596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001374421.1:c.2282-4596A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361350.1:n.2282-4596A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3115,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3115,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_012224.3:c.2504-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036356.1:n.2504-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3049,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3049,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NR_164630.1:n.3050-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2989,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2989,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199398.3:c.2456-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186327.1:n.2456-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2830,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2830,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199399.3:c.2297-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186328.1:n.2297-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2983,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2983,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199400.3:c.2372-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186329.1:n.2372-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3115,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3115,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_012224.4:c.2504-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036356.1:n.2504-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727853"
    }
  ],
  "type": "nucleotide"
}