{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA286509862",
  "communityStandardTitle": [
    "NM_013275.6(ANKRD11):c.6695G>C (p.Arg2232Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2267009[alleleid]",
        "alleleId": 2267009,
        "preferredName": "NM_013275.6(ANKRD11):c.6695G>C (p.Arg2232Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2279784",
        "RCV": [
          "RCV002813915"
        ],
        "variationId": 2279784
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89346255C>G?assembly=hg19",
        "id": "chr16:g.89346255C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89279847C>G?assembly=hg38",
        "id": "chr16:g.89279847C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/929429805",
        "rs": 929429805
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89346255-C-G?dataset=gnomad_r2_1",
        "id": "16-89346255-C-G",
        "variant": "16:89346255 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89279847-C-G?dataset=gnomad_r4",
        "id": "16-89279847-C-G",
        "variant": "16:89279847 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 89279847,
          "referenceAllele": "C",
          "start": 89279846
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89279847C>G",
        "CM000678.2:g.89279847C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 89346255,
          "referenceAllele": "C",
          "start": 89346254
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89346255C>G",
        "CM000678.1:g.89346255C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 87873756,
          "referenceAllele": "C",
          "start": 87873755
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87873756C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215715,
          "referenceAllele": "G",
          "start": 215714
        }
      ],
      "hgvs": [
        "NG_032003.1:g.215715G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215715,
          "referenceAllele": "G",
          "start": 215714
        }
      ],
      "hgvs": [
        "NG_032003.2:g.215715G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7156,
          "referenceAllele": "G",
          "start": 7155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.10:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Arg2232Pro",
        "hgvsWellDefined": "ENSP00000301030.4:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.6695G>C"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.6695G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Arg2232Pro"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Arg2232Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7008,
          "referenceAllele": "G",
          "start": 7007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.10:c.*6498G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*6498G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6986,
          "referenceAllele": "G",
          "start": 6985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.7:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Arg2232Pro",
        "hgvsWellDefined": "ENSP00000367581.2:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7071,
          "referenceAllele": "G",
          "start": 7070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642600.1:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495226.1:p.Arg2232Pro",
        "hgvsWellDefined": "ENSP00000495226.1:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 744,
          "endIntronDirection": "-",
          "endIntronOffset": 4655,
          "referenceAllele": "G",
          "start": 744,
          "startIntronDirection": "-",
          "startIntronOffset": 4656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000644285.1:c.745-4656G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496476.1:n.745-4656G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7156,
          "referenceAllele": "G",
          "start": 7155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.8:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Arg2232Pro",
        "hgvsWellDefined": "ENSP00000301030.4:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254944"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6915,
          "referenceAllele": "G",
          "start": 6914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.9:c.*6498G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*6498G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6984,
          "referenceAllele": "G",
          "start": 6983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.6:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Arg2232Pro",
        "hgvsWellDefined": "ENSP00000367581.2:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 151,
          "endIntronDirection": "-",
          "endIntronOffset": 4655,
          "referenceAllele": "G",
          "start": 151,
          "startIntronDirection": "-",
          "startIntronOffset": 4656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000562194.1:c.152-4656G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826374403",
      "coordinates": [
        {
          "allele": "C",
          "end": 7227,
          "referenceAllele": "G",
          "start": 7226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.1:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Arg2232Pro",
        "hgvsWellDefined": "NP_001243111.1:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826376266",
      "coordinates": [
        {
          "allele": "C",
          "end": 7153,
          "referenceAllele": "G",
          "start": 7152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.1:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Arg2232Pro",
        "hgvsWellDefined": "NP_001243112.1:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580357527",
      "coordinates": [
        {
          "allele": "C",
          "end": 7156,
          "referenceAllele": "G",
          "start": 7155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.5:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Arg2232Pro",
        "hgvsWellDefined": "NP_037407.4:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6933,
          "referenceAllele": "G",
          "start": 6932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721181.1:c.6593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721244.1:p.Arg2198Pro",
        "hgvsWellDefined": "XP_006721244.1:p.Arg2198Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6971,
          "referenceAllele": "G",
          "start": 6970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721184.2:c.6398G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721247.1:p.Arg2133Pro",
        "hgvsWellDefined": "XP_006721247.1:p.Arg2133Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7213,
          "referenceAllele": "G",
          "start": 7212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.1:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Arg2232Pro",
        "hgvsWellDefined": "XP_011521353.1:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6918,
          "referenceAllele": "G",
          "start": 6917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523052.1:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521354.1:p.Arg2232Pro",
        "hgvsWellDefined": "XP_011521354.1:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7351,
          "referenceAllele": "G",
          "start": 7350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.1:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Arg2232Pro",
        "hgvsWellDefined": "XP_011521355.1:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090193"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7266,
          "referenceAllele": "G",
          "start": 7265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.1:c.6593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Arg2198Pro",
        "hgvsWellDefined": "XP_011521356.1:p.Arg2198Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7539,
          "referenceAllele": "G",
          "start": 7538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.1:c.6593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Arg2198Pro",
        "hgvsWellDefined": "XP_011521357.1:p.Arg2198Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7288,
          "referenceAllele": "G",
          "start": 7287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.1:c.6566G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Arg2189Pro",
        "hgvsWellDefined": "XP_011521358.1:p.Arg2189Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090196"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7168,
          "referenceAllele": "G",
          "start": 7167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.1:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Arg2232Pro",
        "hgvsWellDefined": "XP_011521359.1:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090197"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7217,
          "referenceAllele": "G",
          "start": 7216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.3:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Arg2232Pro",
        "hgvsWellDefined": "XP_011521353.1:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546876"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7322,
          "referenceAllele": "G",
          "start": 7321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.2:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Arg2232Pro",
        "hgvsWellDefined": "XP_011521355.1:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7236,
          "referenceAllele": "G",
          "start": 7235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.2:c.6593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Arg2198Pro",
        "hgvsWellDefined": "XP_011521356.1:p.Arg2198Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7521,
          "referenceAllele": "G",
          "start": 7520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.2:c.6593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Arg2198Pro",
        "hgvsWellDefined": "XP_011521357.1:p.Arg2198Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7258,
          "referenceAllele": "G",
          "start": 7257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.2:c.6566G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Arg2189Pro",
        "hgvsWellDefined": "XP_011521358.1:p.Arg2189Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546880"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7139,
          "referenceAllele": "G",
          "start": 7138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.2:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Arg2232Pro",
        "hgvsWellDefined": "XP_011521359.1:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7703,
          "referenceAllele": "G",
          "start": 7702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023182.2:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878671.1:p.Arg2232Pro",
        "hgvsWellDefined": "XP_016878671.1:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573985"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7325,
          "referenceAllele": "G",
          "start": 7324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023183.1:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878672.1:p.Arg2232Pro",
        "hgvsWellDefined": "XP_016878672.1:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7322,
          "referenceAllele": "G",
          "start": 7321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023184.1:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878673.1:p.Arg2232Pro",
        "hgvsWellDefined": "XP_016878673.1:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573987"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6963,
          "referenceAllele": "G",
          "start": 6962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023185.1:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878674.1:p.Arg2232Pro",
        "hgvsWellDefined": "XP_016878674.1:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573988"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7699,
          "referenceAllele": "G",
          "start": 7698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023186.1:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878675.1:p.Arg2232Pro",
        "hgvsWellDefined": "XP_016878675.1:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7051,
          "referenceAllele": "G",
          "start": 7050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023187.1:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878676.1:p.Arg2232Pro",
        "hgvsWellDefined": "XP_016878676.1:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7233,
          "referenceAllele": "G",
          "start": 7232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_024450244.1:c.6593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306012.1:p.Arg2198Pro",
        "hgvsWellDefined": "XP_024306012.1:p.Arg2198Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580357527",
      "coordinates": [
        {
          "allele": "C",
          "end": 7156,
          "referenceAllele": "G",
          "start": 7155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.6:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Arg2232Pro",
        "hgvsWellDefined": "NP_037407.4:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.6695G>C"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.6695G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Arg2232Pro"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Arg2232Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826374403",
      "coordinates": [
        {
          "allele": "C",
          "end": 7227,
          "referenceAllele": "G",
          "start": 7226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.2:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Arg2232Pro",
        "hgvsWellDefined": "NP_001243111.1:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826376266",
      "coordinates": [
        {
          "allele": "C",
          "end": 7153,
          "referenceAllele": "G",
          "start": 7152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.2:c.6695G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Arg2232Pro",
        "hgvsWellDefined": "NP_001243112.1:p.Arg2232Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680510"
    }
  ],
  "type": "nucleotide"
}