{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043117",
  "communityStandardTitle": [
    "NM_001347721.2(DYRK1A):c.638-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360443[alleleid]",
        "alleleId": 360443,
        "preferredName": "NM_001347721.2(DYRK1A):c.638-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373544",
        "RCV": [
          "RCV000413494",
          "RCV001507309"
        ],
        "variationId": 373544
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.38862475A>G?assembly=hg19",
        "id": "chr21:g.38862475A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.37490173A>G?assembly=hg38",
        "id": "chr21:g.37490173A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518474",
        "rs": 1057518474
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 37490173,
          "referenceAllele": "A",
          "start": 37490172
        }
      ],
      "hgvs": [
        "NC_000021.9:g.37490173A>G",
        "CM000683.2:g.37490173A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 38862475,
          "referenceAllele": "A",
          "start": 38862474
        }
      ],
      "hgvs": [
        "NC_000021.8:g.38862475A>G",
        "CM000683.1:g.38862475A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 37784345,
          "referenceAllele": "A",
          "start": 37784344
        }
      ],
      "hgvs": [
        "NC_000021.7:g.37784345A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 127617,
          "referenceAllele": "A",
          "start": 127616
        }
      ],
      "hgvs": [
        "NG_009366.1:g.127617A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001574"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 913,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 913,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000338785.8:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342690.3:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747770"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 764,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 764,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000398960.7:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381932.2:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1059,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1059,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000642309.1:c.551-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495596.1:n.551-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766673"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 837,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 837,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000643624.1:c.638-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493627.1:n.638-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767382"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 467,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 467,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000643808.1:n.468-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 806,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000643854.1:c.551-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493653.1:n.551-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 28,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000644367.1:n.29-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767781"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1268,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1268,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000644942.1:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494544.1:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 740,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 740,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000645424.1:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494897.1:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768343"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 890,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 890,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000645774.1:c.686-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494536.1:n.686-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768539"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 79,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 79,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000646224.1:n.80-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768762"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1002,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1002,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000646523.1:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495632.1:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768922"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2107,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2107,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000646548.1:c.638-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495908.1:n.638-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768933"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1569,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1569,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000647188.2:c.638-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494572.1:n.638-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769280",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647188.2:c.638-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001347721.2:c.638-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494572.1:n.638-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001334650.1:n.638-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1109,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1109,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000647425.1:c.638-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496748.1:n.638-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769403"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1322,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1322,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000647504.1:c.551-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495571.1:n.551-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769452"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 893,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 893,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000338785.7:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342690.3:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2107,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2107,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000339659.8:c.638-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340373.3:n.638-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260920"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000398956.2:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381929.2:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 739,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 739,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000398960.6:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381932.2:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278489"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 739,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 739,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001396.3:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387.2:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026782"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 913,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 913,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_101395.2:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_567824.1:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2107,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2107,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_130436.2:c.638-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_569120.1:n.638-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 740,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 740,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_130438.2:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_569122.1:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 867,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 867,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_005260931.3:c.578-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260988.1:n.578-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 77,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 77,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_005260933.3:c.-20-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260990.1:n.-20-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 816,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 816,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_006723976.2:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724039.1:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1136,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1136,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_006723977.2:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724040.1:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 788,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 788,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_006723978.2:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724041.1:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 971,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 971,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_006723979.2:c.638-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724042.1:n.638-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 700,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 700,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_011529482.1:c.686-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527784.1:n.686-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096551"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 841,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 841,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_011529483.1:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527785.1:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 673,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 673,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_011529484.1:c.659-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527786.1:n.659-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1322,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1322,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_011529485.1:c.551-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527787.1:n.551-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1408,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1408,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001347721.1:c.638-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334650.1:n.638-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517817"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1016,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1016,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001347722.1:c.638-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334651.1:n.638-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1322,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1322,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001347723.1:c.551-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334652.1:n.551-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1002,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1002,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001396.4:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387.2:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524870"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 65,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 65,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_005260933.5:c.-20-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260990.1:n.-20-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 811,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 811,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_006723976.3:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724039.1:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540861"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1136,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1136,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_006723977.3:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724040.1:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540862"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1865,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1865,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_006723978.3:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724041.1:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540863"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3679,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3679,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_011529483.2:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527785.1:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 770,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_017028284.1:c.638-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883773.1:n.638-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578066"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1011,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1011,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_017028286.2:c.578-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883775.1:n.578-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1054,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_024452057.1:c.551-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307825.1:n.551-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585561"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1569,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1569,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001347721.2:c.638-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334650.1:n.638-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664426",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647188.2:c.638-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001347721.2:c.638-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494572.1:n.638-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001334650.1:n.638-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 826,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001347722.2:c.638-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334651.1:n.638-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1483,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1483,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001347723.2:c.551-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334652.1:n.551-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719059"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1002,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1002,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001396.5:c.665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387.2:n.665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727179"
    }
  ],
  "type": "nucleotide"
}