{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8242498",
  "communityStandardTitle": [
    "NM_013275.6(ANKRD11):c.2846G>A (p.Arg949Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2344491[alleleid]",
        "alleleId": 2344491,
        "preferredName": "NM_013275.6(ANKRD11):c.2846G>A (p.Arg949Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2354753",
        "RCV": [
          "RCV002974200"
        ],
        "variationId": 2354753
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-89350104-C-T",
        "id": "16-89350104-C-T",
        "variant": "16:89350104 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89350104C>T?assembly=hg19",
        "id": "chr16:g.89350104C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89283696C>T?assembly=hg38",
        "id": "chr16:g.89283696C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/775618210",
        "rs": 775618210
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89350104-C-T?dataset=gnomad_r2_1",
        "id": "16-89350104-C-T",
        "variant": "16:89350104 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89283696-C-T?dataset=gnomad_r3",
        "id": "16-89283696-C-T",
        "variant": "16:89283696 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89283696-C-T?dataset=gnomad_r4",
        "id": "16-89283696-C-T",
        "variant": "16:89283696 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 89283696,
          "referenceAllele": "C",
          "start": 89283695
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89283696C>T",
        "CM000678.2:g.89283696C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 89350104,
          "referenceAllele": "C",
          "start": 89350103
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89350104C>T",
        "CM000678.1:g.89350104C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 87877605,
          "referenceAllele": "C",
          "start": 87877604
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87877605C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 211866,
          "referenceAllele": "G",
          "start": 211865
        }
      ],
      "hgvs": [
        "NG_032003.1:g.211866G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 211866,
          "referenceAllele": "G",
          "start": 211865
        }
      ],
      "hgvs": [
        "NG_032003.2:g.211866G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3307,
          "referenceAllele": "G",
          "start": 3306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.10:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Arg949Gln",
        "hgvsWellDefined": "ENSP00000301030.4:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.2846G>A"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.2846G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Arg949Gln"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Arg949Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3159,
          "referenceAllele": "G",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.10:c.*2649G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*2649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3137,
          "referenceAllele": "G",
          "start": 3136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.7:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Arg949Gln",
        "hgvsWellDefined": "ENSP00000367581.2:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2552,
          "referenceAllele": "G",
          "start": 2551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642443.1:c.2471G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493644.1:p.Arg824Gln",
        "hgvsWellDefined": "ENSP00000493644.1:p.Arg824Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3222,
          "referenceAllele": "G",
          "start": 3221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642600.1:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495226.1:p.Arg949Gln",
        "hgvsWellDefined": "ENSP00000495226.1:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 744,
          "endIntronDirection": "+",
          "endIntronOffset": 4832,
          "referenceAllele": "G",
          "start": 744,
          "startIntronDirection": "+",
          "startIntronOffset": 4831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000644285.1:c.744+4832G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496476.1:n.744+4832G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767741"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3307,
          "referenceAllele": "G",
          "start": 3306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.8:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Arg949Gln",
        "hgvsWellDefined": "ENSP00000301030.4:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3066,
          "referenceAllele": "G",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.9:c.*2649G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*2649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259288"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3135,
          "referenceAllele": "G",
          "start": 3134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.6:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Arg949Gln",
        "hgvsWellDefined": "ENSP00000367581.2:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 151,
          "endIntronDirection": "+",
          "endIntronOffset": 4832,
          "referenceAllele": "G",
          "start": 151,
          "startIntronDirection": "+",
          "startIntronOffset": 4831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000562194.1:c.151+4832G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826373451",
      "coordinates": [
        {
          "allele": "A",
          "end": 3378,
          "referenceAllele": "G",
          "start": 3377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.1:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Arg949Gln",
        "hgvsWellDefined": "NP_001243111.1:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826375296",
      "coordinates": [
        {
          "allele": "A",
          "end": 3304,
          "referenceAllele": "G",
          "start": 3303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.1:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Arg949Gln",
        "hgvsWellDefined": "NP_001243112.1:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580356596",
      "coordinates": [
        {
          "allele": "A",
          "end": 3307,
          "referenceAllele": "G",
          "start": 3306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.5:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Arg949Gln",
        "hgvsWellDefined": "NP_037407.4:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3084,
          "referenceAllele": "G",
          "start": 3083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721181.1:c.2744G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721244.1:p.Arg915Gln",
        "hgvsWellDefined": "XP_006721244.1:p.Arg915Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3122,
          "referenceAllele": "G",
          "start": 3121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721184.2:c.2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721247.1:p.Arg850Gln",
        "hgvsWellDefined": "XP_006721247.1:p.Arg850Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3364,
          "referenceAllele": "G",
          "start": 3363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.1:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Arg949Gln",
        "hgvsWellDefined": "XP_011521353.1:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3069,
          "referenceAllele": "G",
          "start": 3068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523052.1:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521354.1:p.Arg949Gln",
        "hgvsWellDefined": "XP_011521354.1:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3502,
          "referenceAllele": "G",
          "start": 3501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.1:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Arg949Gln",
        "hgvsWellDefined": "XP_011521355.1:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090193"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3417,
          "referenceAllele": "G",
          "start": 3416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.1:c.2744G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Arg915Gln",
        "hgvsWellDefined": "XP_011521356.1:p.Arg915Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3690,
          "referenceAllele": "G",
          "start": 3689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.1:c.2744G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Arg915Gln",
        "hgvsWellDefined": "XP_011521357.1:p.Arg915Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3439,
          "referenceAllele": "G",
          "start": 3438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.1:c.2717G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Arg906Gln",
        "hgvsWellDefined": "XP_011521358.1:p.Arg906Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3319,
          "referenceAllele": "G",
          "start": 3318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.1:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Arg949Gln",
        "hgvsWellDefined": "XP_011521359.1:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3368,
          "referenceAllele": "G",
          "start": 3367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.3:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Arg949Gln",
        "hgvsWellDefined": "XP_011521353.1:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3473,
          "referenceAllele": "G",
          "start": 3472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.2:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Arg949Gln",
        "hgvsWellDefined": "XP_011521355.1:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3387,
          "referenceAllele": "G",
          "start": 3386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.2:c.2744G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Arg915Gln",
        "hgvsWellDefined": "XP_011521356.1:p.Arg915Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3672,
          "referenceAllele": "G",
          "start": 3671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.2:c.2744G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Arg915Gln",
        "hgvsWellDefined": "XP_011521357.1:p.Arg915Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3409,
          "referenceAllele": "G",
          "start": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.2:c.2717G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Arg906Gln",
        "hgvsWellDefined": "XP_011521358.1:p.Arg906Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3290,
          "referenceAllele": "G",
          "start": 3289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.2:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Arg949Gln",
        "hgvsWellDefined": "XP_011521359.1:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3854,
          "referenceAllele": "G",
          "start": 3853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023182.2:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878671.1:p.Arg949Gln",
        "hgvsWellDefined": "XP_016878671.1:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573985"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3476,
          "referenceAllele": "G",
          "start": 3475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023183.1:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878672.1:p.Arg949Gln",
        "hgvsWellDefined": "XP_016878672.1:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3473,
          "referenceAllele": "G",
          "start": 3472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023184.1:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878673.1:p.Arg949Gln",
        "hgvsWellDefined": "XP_016878673.1:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3114,
          "referenceAllele": "G",
          "start": 3113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023185.1:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878674.1:p.Arg949Gln",
        "hgvsWellDefined": "XP_016878674.1:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3850,
          "referenceAllele": "G",
          "start": 3849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023186.1:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878675.1:p.Arg949Gln",
        "hgvsWellDefined": "XP_016878675.1:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3202,
          "referenceAllele": "G",
          "start": 3201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023187.1:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878676.1:p.Arg949Gln",
        "hgvsWellDefined": "XP_016878676.1:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3384,
          "referenceAllele": "G",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_024450244.1:c.2744G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306012.1:p.Arg915Gln",
        "hgvsWellDefined": "XP_024306012.1:p.Arg915Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580356596",
      "coordinates": [
        {
          "allele": "A",
          "end": 3307,
          "referenceAllele": "G",
          "start": 3306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.6:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Arg949Gln",
        "hgvsWellDefined": "NP_037407.4:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.2846G>A"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.2846G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Arg949Gln"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Arg949Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826373451",
      "coordinates": [
        {
          "allele": "A",
          "end": 3378,
          "referenceAllele": "G",
          "start": 3377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.2:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Arg949Gln",
        "hgvsWellDefined": "NP_001243111.1:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826375296",
      "coordinates": [
        {
          "allele": "A",
          "end": 3304,
          "referenceAllele": "G",
          "start": 3303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.2:c.2846G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Arg949Gln",
        "hgvsWellDefined": "NP_001243112.1:p.Arg949Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680510"
    }
  ],
  "type": "nucleotide"
}