{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397165218",
  "communityStandardTitle": [
    "NM_013275.6(ANKRD11):c.1318C>T (p.Arg440Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1182838",
        "active": true,
        "id": "COSM1182838"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=975450[alleleid]",
        "alleleId": 975450,
        "preferredName": "NM_013275.6(ANKRD11):c.1318C>T (p.Arg440Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/987277",
        "RCV": [
          "RCV001268594",
          "RCV003526064"
        ],
        "variationId": 987277
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89351632G>A?assembly=hg19",
        "id": "chr16:g.89351632G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89285224G>A?assembly=hg38",
        "id": "chr16:g.89285224G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771973198",
        "rs": 771973198
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89285224,
          "referenceAllele": "G",
          "start": 89285223
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89285224G>A",
        "CM000678.2:g.89285224G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89351632,
          "referenceAllele": "G",
          "start": 89351631
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89351632G>A",
        "CM000678.1:g.89351632G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 87879133,
          "referenceAllele": "G",
          "start": 87879132
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87879133G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210338,
          "referenceAllele": "C",
          "start": 210337
        }
      ],
      "hgvs": [
        "NG_032003.1:g.210338C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210338,
          "referenceAllele": "C",
          "start": 210337
        }
      ],
      "hgvs": [
        "NG_032003.2:g.210338C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1779,
          "referenceAllele": "C",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.10:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.1318C>T"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.1318C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Arg440Ter"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Arg440Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1631,
          "referenceAllele": "C",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.10:c.*1121C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*1121C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1609,
          "referenceAllele": "C",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.7:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1024,
          "referenceAllele": "C",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000568100.2:n.1024C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1024,
          "referenceAllele": "C",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642443.1:c.943C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493644.1:p.Arg315Ter",
        "hgvsWellDefined": "ENSP00000493644.1:p.Arg315Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1694,
          "referenceAllele": "C",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642600.1:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495226.1:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "endIntronDirection": "+",
          "endIntronOffset": 3304,
          "referenceAllele": "C",
          "start": 744,
          "startIntronDirection": "+",
          "startIntronOffset": 3303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000644285.1:c.744+3304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496476.1:n.744+3304C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3090,
          "referenceAllele": "C",
          "start": 3089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000645212.1:n.3090C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1310,
          "referenceAllele": "C",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000646345.1:n.1310C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1779,
          "referenceAllele": "C",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.8:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1538,
          "referenceAllele": "C",
          "start": 1537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.9:c.*1121C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*1121C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1607,
          "referenceAllele": "C",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.6:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 151,
          "endIntronDirection": "+",
          "endIntronOffset": 3304,
          "referenceAllele": "C",
          "start": 151,
          "startIntronDirection": "+",
          "startIntronOffset": 3303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000562194.1:c.151+3304C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376627"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000568100.1:n.869C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "C",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000613312.4:c.*216C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478018.1:n.*216C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1850,
          "referenceAllele": "C",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.1:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1776,
          "referenceAllele": "C",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.1:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1779,
          "referenceAllele": "C",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.5:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1556,
          "referenceAllele": "C",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721181.1:c.1216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721244.1:p.Arg406Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721184.2:c.1021C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721247.1:p.Arg341Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1836,
          "referenceAllele": "C",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.1:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1541,
          "referenceAllele": "C",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523052.1:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521354.1:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1974,
          "referenceAllele": "C",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.1:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1889,
          "referenceAllele": "C",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.1:c.1216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Arg406Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2162,
          "referenceAllele": "C",
          "start": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.1:c.1216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Arg406Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1911,
          "referenceAllele": "C",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.1:c.1189C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Arg397Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1791,
          "referenceAllele": "C",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.1:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1840,
          "referenceAllele": "C",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.3:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1945,
          "referenceAllele": "C",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.2:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1859,
          "referenceAllele": "C",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.2:c.1216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Arg406Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2144,
          "referenceAllele": "C",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.2:c.1216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Arg406Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1881,
          "referenceAllele": "C",
          "start": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.2:c.1189C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Arg397Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1762,
          "referenceAllele": "C",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.2:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2326,
          "referenceAllele": "C",
          "start": 2325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023182.2:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878671.1:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1948,
          "referenceAllele": "C",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023183.1:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878672.1:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1945,
          "referenceAllele": "C",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023184.1:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878673.1:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1586,
          "referenceAllele": "C",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023185.1:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878674.1:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2322,
          "referenceAllele": "C",
          "start": 2321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023186.1:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878675.1:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023187.1:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878676.1:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1856,
          "referenceAllele": "C",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_024450244.1:c.1216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306012.1:p.Arg406Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1779,
          "referenceAllele": "C",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.6:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.1318C>T"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.1318C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Arg440Ter"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Arg440Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1850,
          "referenceAllele": "C",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.2:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1776,
          "referenceAllele": "C",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.2:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Arg440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680510"
    }
  ],
  "type": "nucleotide"
}