{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2829446",
  "communityStandardTitle": [
    "NM_173660.5(DOK7):c.1279G>A (p.Gly427Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4124464",
        "active": true,
        "id": "COSM4124464"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4124465",
        "active": true,
        "id": "COSM4124465"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=453147[alleleid]",
        "alleleId": 453147,
        "preferredName": "NM_173660.5(DOK7):c.1279G>A (p.Gly427Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/465672",
        "RCV": [
          "RCV000537129",
          "RCV002526139",
          "RCV003144335"
        ],
        "variationId": 465672
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-3494992-G-A",
        "id": "4-3494992-G-A",
        "variant": "4:3494992 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.3494992G>A?assembly=hg19",
        "id": "chr4:g.3494992G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.3493265G>A?assembly=hg38",
        "id": "chr4:g.3493265G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/377555406",
        "rs": 377555406
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-3494992-G-A?dataset=gnomad_r2_1",
        "id": "4-3494992-G-A",
        "variant": "4:3494992 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-3493265-G-A?dataset=gnomad_r3",
        "id": "4-3493265-G-A",
        "variant": "4:3493265 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-3493265-G-A?dataset=gnomad_r4",
        "id": "4-3493265-G-A",
        "variant": "4:3493265 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 3493265,
          "referenceAllele": "G",
          "start": 3493264
        }
      ],
      "hgvs": [
        "NC_000004.12:g.3493265G>A",
        "CM000666.2:g.3493265G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 3494992,
          "referenceAllele": "G",
          "start": 3494991
        }
      ],
      "hgvs": [
        "NC_000004.11:g.3494992G>A",
        "CM000666.1:g.3494992G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 3464790,
          "referenceAllele": "G",
          "start": 3464789
        }
      ],
      "hgvs": [
        "NC_000004.10:g.3464790G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34960,
          "referenceAllele": "G",
          "start": 34959
        }
      ],
      "hgvs": [
        "NG_013072.2:g.34960G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002701"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1349,
          "referenceAllele": "G",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "ENST00000340083.6:c.1279G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344432.5:p.Gly427Ser",
        "hgvsWellDefined": "ENSP00000344432.5:p.Gly427Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747871",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340083.6:c.1279G>A"
          },
          "RefSeq": {
            "hgvs": "NM_173660.5:c.1279G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344432.5:p.Gly427Ser"
          },
          "RefSeq": {
            "hgvs": "NP_775931.3:p.Gly427Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 912,
          "referenceAllele": "G",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "ENST00000643608.1:c.847G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495701.1:p.Gly283Ser",
        "hgvsWellDefined": "ENSP00000495701.1:p.Gly283Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1344,
          "referenceAllele": "G",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "ENST00000340083.5:c.1279G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344432.5:p.Gly427Ser",
        "hgvsWellDefined": "ENSP00000344432.5:p.Gly427Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1333,
          "referenceAllele": "G",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "ENST00000507039.5:c.*500G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423614.1:n.*500G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 471,
          "referenceAllele": "G",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "ENST00000512714.1:n.471G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1047,
          "referenceAllele": "G",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "ENST00000515886.5:n.1047G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS345008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1338,
          "referenceAllele": "G",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001164673.1:c.*500G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158145.1:n.*500G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826431534",
      "coordinates": [
        {
          "allele": "A",
          "end": 1047,
          "referenceAllele": "G",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001256896.1:c.349G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243825.1:p.Gly117Ser",
        "hgvsWellDefined": "NP_001243825.1:p.Gly117Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019513"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826862613",
      "coordinates": [
        {
          "allele": "A",
          "end": 1349,
          "referenceAllele": "G",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001301071.1:c.1279G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288000.1:p.Gly427Ser",
        "hgvsWellDefined": "NP_001288000.1:p.Gly427Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025085"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658666781",
      "coordinates": [
        {
          "allele": "A",
          "end": 1349,
          "referenceAllele": "G",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_173660.4:c.1279G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775931.3:p.Gly427Ser",
        "hgvsWellDefined": "NP_775931.3:p.Gly427Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1349,
          "referenceAllele": "G",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "XM_011513435.1:c.1279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511737.1:p.Gly427Ser",
        "hgvsWellDefined": "XP_011511737.1:p.Gly427Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1349,
          "referenceAllele": "G",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "XM_011513436.1:c.1279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511738.1:p.Gly427Ser",
        "hgvsWellDefined": "XP_011511738.1:p.Gly427Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1338,
          "referenceAllele": "G",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "XM_011513437.1:c.865G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511739.1:p.Gly289Ser",
        "hgvsWellDefined": "XP_011511739.1:p.Gly289Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828115752",
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "referenceAllele": "G",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001363811.1:c.847G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350740.1:p.Gly283Ser",
        "hgvsWellDefined": "NP_001350740.1:p.Gly283Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1349,
          "referenceAllele": "G",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "XM_011513435.2:c.1279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511737.1:p.Gly427Ser",
        "hgvsWellDefined": "XP_011511737.1:p.Gly427Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1338,
          "referenceAllele": "G",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "XM_011513437.2:c.865G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511739.1:p.Gly289Ser",
        "hgvsWellDefined": "XP_011511739.1:p.Gly289Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542909"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658666781",
      "coordinates": [
        {
          "allele": "A",
          "end": 1349,
          "referenceAllele": "G",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_173660.5:c.1279G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775931.3:p.Gly427Ser",
        "hgvsWellDefined": "NP_775931.3:p.Gly427Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672701",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340083.6:c.1279G>A"
          },
          "RefSeq": {
            "hgvs": "NM_173660.5:c.1279G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344432.5:p.Gly427Ser"
          },
          "RefSeq": {
            "hgvs": "NP_775931.3:p.Gly427Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1338,
          "referenceAllele": "G",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001164673.2:c.*500G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158145.1:n.*500G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678361"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826862613",
      "coordinates": [
        {
          "allele": "A",
          "end": 1349,
          "referenceAllele": "G",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001301071.2:c.1279G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288000.1:p.Gly427Ser",
        "hgvsWellDefined": "NP_001288000.1:p.Gly427Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683334"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828115752",
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "referenceAllele": "G",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001363811.2:c.847G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350740.1:p.Gly283Ser",
        "hgvsWellDefined": "NP_001350740.1:p.Gly283Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690778"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826431534",
      "coordinates": [
        {
          "allele": "A",
          "end": 1047,
          "referenceAllele": "G",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001256896.2:c.349G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243825.1:p.Gly117Ser",
        "hgvsWellDefined": "NP_001243825.1:p.Gly117Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714852"
    }
  ],
  "type": "nucleotide"
}