{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2829104",
  "communityStandardTitle": [
    "NM_173660.5(DOK7):c.652+5G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1005237[alleleid]",
        "alleleId": 1005237,
        "preferredName": "NM_173660.5(DOK7):c.652+5G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1024293",
        "RCV": [
          "RCV001324458",
          "RCV002509662"
        ],
        "variationId": 1024293
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-3487390-G-A",
        "id": "4-3487390-G-A",
        "variant": "4:3487390 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.3487390G>A?assembly=hg19",
        "id": "chr4:g.3487390G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.3485663G>A?assembly=hg38",
        "id": "chr4:g.3485663G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/772918388",
        "rs": 772918388
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-3487390-G-A?dataset=gnomad_r2_1",
        "id": "4-3487390-G-A",
        "variant": "4:3487390 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-3485663-G-A?dataset=gnomad_r3",
        "id": "4-3485663-G-A",
        "variant": "4:3485663 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-3485663-G-A?dataset=gnomad_r4",
        "id": "4-3485663-G-A",
        "variant": "4:3485663 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 3485663,
          "referenceAllele": "G",
          "start": 3485662
        }
      ],
      "hgvs": [
        "NC_000004.12:g.3485663G>A",
        "CM000666.2:g.3485663G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 3487390,
          "referenceAllele": "G",
          "start": 3487389
        }
      ],
      "hgvs": [
        "NC_000004.11:g.3487390G>A",
        "CM000666.1:g.3487390G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 3457188,
          "referenceAllele": "G",
          "start": 3457187
        }
      ],
      "hgvs": [
        "NC_000004.10:g.3457188G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27358,
          "referenceAllele": "G",
          "start": 27357
        }
      ],
      "hgvs": [
        "NG_013072.2:g.27358G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002701"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "ENST00000340083.6:c.652+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344432.5:n.652+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747871",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340083.6:c.652+5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_173660.5:c.652+5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344432.5:n.652+5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_775931.3:n.652+5G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 285,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 285,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "ENST00000643608.1:c.220+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495701.1:n.220+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 717,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 717,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "ENST00000340083.5:c.652+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344432.5:n.652+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 285,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 285,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "ENST00000503688.5:n.285+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 706,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 706,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "ENST00000507039.5:c.641+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423614.1:n.641+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 310,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 310,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "ENST00000513995.1:n.310+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 420,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 420,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "ENST00000515886.5:n.420+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS345008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 711,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 711,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001164673.1:c.641+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158145.1:n.641+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 420,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 420,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001256896.1:c.-279+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243825.1:n.-279+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001301071.1:c.652+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288000.1:n.652+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_173660.4:c.652+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775931.3:n.652+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "XM_011513435.1:c.652+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511737.1:n.652+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "XM_011513436.1:c.652+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511738.1:n.652+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 711,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 711,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "XM_011513437.1:c.238+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511739.1:n.238+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 290,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 290,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001363811.1:c.220+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350740.1:n.220+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "XM_011513435.2:c.652+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511737.1:n.652+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 711,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 711,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "XM_011513437.2:c.238+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511739.1:n.238+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542909"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_173660.5:c.652+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775931.3:n.652+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672701",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340083.6:c.652+5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_173660.5:c.652+5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344432.5:n.652+5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_775931.3:n.652+5G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 711,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 711,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001164673.2:c.641+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158145.1:n.641+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001301071.2:c.652+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288000.1:n.652+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683334"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 290,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 290,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001363811.2:c.220+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350740.1:n.220+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690778"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 420,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 420,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001256896.2:c.-279+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243825.1:n.-279+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714852"
    }
  ],
  "type": "nucleotide"
}