{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8241517",
  "communityStandardTitle": [
    "NM_013275.6(ANKRD11):c.6254G>C (p.Cys2085Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1198847[alleleid]",
        "alleleId": 1198847,
        "preferredName": "NM_013275.6(ANKRD11):c.6254G>C (p.Cys2085Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1207769",
        "RCV": [
          "RCV001575869",
          "RCV003640973"
        ],
        "variationId": 1207769
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-89346696-C-G",
        "id": "16-89346696-C-G",
        "variant": "16:89346696 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89346696C>G?assembly=hg19",
        "id": "chr16:g.89346696C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89280288C>G?assembly=hg38",
        "id": "chr16:g.89280288C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/755786402",
        "rs": 755786402
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89346696-C-G?dataset=gnomad_r2_1",
        "id": "16-89346696-C-G",
        "variant": "16:89346696 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89280288-C-G?dataset=gnomad_r3",
        "id": "16-89280288-C-G",
        "variant": "16:89280288 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89280288-C-G?dataset=gnomad_r4",
        "id": "16-89280288-C-G",
        "variant": "16:89280288 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 89280288,
          "referenceAllele": "C",
          "start": 89280287
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89280288C>G",
        "CM000678.2:g.89280288C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 89346696,
          "referenceAllele": "C",
          "start": 89346695
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89346696C>G",
        "CM000678.1:g.89346696C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 87874197,
          "referenceAllele": "C",
          "start": 87874196
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87874197C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215274,
          "referenceAllele": "G",
          "start": 215273
        }
      ],
      "hgvs": [
        "NG_032003.1:g.215274G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215274,
          "referenceAllele": "G",
          "start": 215273
        }
      ],
      "hgvs": [
        "NG_032003.2:g.215274G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6715,
          "referenceAllele": "G",
          "start": 6714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.10:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Cys2085Ser",
        "hgvsWellDefined": "ENSP00000301030.4:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.6254G>C"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.6254G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Cys2085Ser"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Cys2085Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6567,
          "referenceAllele": "G",
          "start": 6566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.10:c.*6057G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*6057G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6545,
          "referenceAllele": "G",
          "start": 6544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.7:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Cys2085Ser",
        "hgvsWellDefined": "ENSP00000367581.2:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6630,
          "referenceAllele": "G",
          "start": 6629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642600.1:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495226.1:p.Cys2085Ser",
        "hgvsWellDefined": "ENSP00000495226.1:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 744,
          "endIntronDirection": "-",
          "endIntronOffset": 5096,
          "referenceAllele": "G",
          "start": 744,
          "startIntronDirection": "-",
          "startIntronOffset": 5097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000644285.1:c.745-5097G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496476.1:n.745-5097G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6715,
          "referenceAllele": "G",
          "start": 6714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.8:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Cys2085Ser",
        "hgvsWellDefined": "ENSP00000301030.4:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254944"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6474,
          "referenceAllele": "G",
          "start": 6473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.9:c.*6057G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*6057G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6543,
          "referenceAllele": "G",
          "start": 6542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.6:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Cys2085Ser",
        "hgvsWellDefined": "ENSP00000367581.2:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 151,
          "endIntronDirection": "-",
          "endIntronOffset": 5096,
          "referenceAllele": "G",
          "start": 151,
          "startIntronDirection": "-",
          "startIntronOffset": 5097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000562194.1:c.152-5097G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826374277",
      "coordinates": [
        {
          "allele": "C",
          "end": 6786,
          "referenceAllele": "G",
          "start": 6785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.1:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Cys2085Ser",
        "hgvsWellDefined": "NP_001243111.1:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826376136",
      "coordinates": [
        {
          "allele": "C",
          "end": 6712,
          "referenceAllele": "G",
          "start": 6711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.1:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Cys2085Ser",
        "hgvsWellDefined": "NP_001243112.1:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499277094",
      "coordinates": [
        {
          "allele": "C",
          "end": 6715,
          "referenceAllele": "G",
          "start": 6714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.5:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Cys2085Ser",
        "hgvsWellDefined": "NP_037407.4:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6492,
          "referenceAllele": "G",
          "start": 6491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721181.1:c.6152G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721244.1:p.Cys2051Ser",
        "hgvsWellDefined": "XP_006721244.1:p.Cys2051Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6530,
          "referenceAllele": "G",
          "start": 6529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721184.2:c.5957G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721247.1:p.Cys1986Ser",
        "hgvsWellDefined": "XP_006721247.1:p.Cys1986Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6772,
          "referenceAllele": "G",
          "start": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.1:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Cys2085Ser",
        "hgvsWellDefined": "XP_011521353.1:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6477,
          "referenceAllele": "G",
          "start": 6476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523052.1:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521354.1:p.Cys2085Ser",
        "hgvsWellDefined": "XP_011521354.1:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6910,
          "referenceAllele": "G",
          "start": 6909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.1:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Cys2085Ser",
        "hgvsWellDefined": "XP_011521355.1:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090193"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6825,
          "referenceAllele": "G",
          "start": 6824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.1:c.6152G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Cys2051Ser",
        "hgvsWellDefined": "XP_011521356.1:p.Cys2051Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7098,
          "referenceAllele": "G",
          "start": 7097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.1:c.6152G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Cys2051Ser",
        "hgvsWellDefined": "XP_011521357.1:p.Cys2051Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6847,
          "referenceAllele": "G",
          "start": 6846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.1:c.6125G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Cys2042Ser",
        "hgvsWellDefined": "XP_011521358.1:p.Cys2042Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090196"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6727,
          "referenceAllele": "G",
          "start": 6726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.1:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Cys2085Ser",
        "hgvsWellDefined": "XP_011521359.1:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090197"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6776,
          "referenceAllele": "G",
          "start": 6775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.3:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Cys2085Ser",
        "hgvsWellDefined": "XP_011521353.1:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546876"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6881,
          "referenceAllele": "G",
          "start": 6880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.2:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Cys2085Ser",
        "hgvsWellDefined": "XP_011521355.1:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6795,
          "referenceAllele": "G",
          "start": 6794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.2:c.6152G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Cys2051Ser",
        "hgvsWellDefined": "XP_011521356.1:p.Cys2051Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7080,
          "referenceAllele": "G",
          "start": 7079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.2:c.6152G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Cys2051Ser",
        "hgvsWellDefined": "XP_011521357.1:p.Cys2051Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6817,
          "referenceAllele": "G",
          "start": 6816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.2:c.6125G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Cys2042Ser",
        "hgvsWellDefined": "XP_011521358.1:p.Cys2042Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546880"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6698,
          "referenceAllele": "G",
          "start": 6697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.2:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Cys2085Ser",
        "hgvsWellDefined": "XP_011521359.1:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7262,
          "referenceAllele": "G",
          "start": 7261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023182.2:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878671.1:p.Cys2085Ser",
        "hgvsWellDefined": "XP_016878671.1:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573985"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6884,
          "referenceAllele": "G",
          "start": 6883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023183.1:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878672.1:p.Cys2085Ser",
        "hgvsWellDefined": "XP_016878672.1:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6881,
          "referenceAllele": "G",
          "start": 6880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023184.1:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878673.1:p.Cys2085Ser",
        "hgvsWellDefined": "XP_016878673.1:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573987"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6522,
          "referenceAllele": "G",
          "start": 6521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023185.1:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878674.1:p.Cys2085Ser",
        "hgvsWellDefined": "XP_016878674.1:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573988"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7258,
          "referenceAllele": "G",
          "start": 7257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023186.1:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878675.1:p.Cys2085Ser",
        "hgvsWellDefined": "XP_016878675.1:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6610,
          "referenceAllele": "G",
          "start": 6609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023187.1:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878676.1:p.Cys2085Ser",
        "hgvsWellDefined": "XP_016878676.1:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6792,
          "referenceAllele": "G",
          "start": 6791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_024450244.1:c.6152G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306012.1:p.Cys2051Ser",
        "hgvsWellDefined": "XP_024306012.1:p.Cys2051Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499277094",
      "coordinates": [
        {
          "allele": "C",
          "end": 6715,
          "referenceAllele": "G",
          "start": 6714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.6:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Cys2085Ser",
        "hgvsWellDefined": "NP_037407.4:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.6254G>C"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.6254G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Cys2085Ser"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Cys2085Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826374277",
      "coordinates": [
        {
          "allele": "C",
          "end": 6786,
          "referenceAllele": "G",
          "start": 6785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.2:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Cys2085Ser",
        "hgvsWellDefined": "NP_001243111.1:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826376136",
      "coordinates": [
        {
          "allele": "C",
          "end": 6712,
          "referenceAllele": "G",
          "start": 6711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.2:c.6254G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Cys2085Ser",
        "hgvsWellDefined": "NP_001243112.1:p.Cys2085Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680510"
    }
  ],
  "type": "nucleotide"
}