{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA624452751",
  "communityStandardTitle": [
    "NM_013275.6(ANKRD11):c.227-5C>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=445678[alleleid]",
        "alleleId": 445678,
        "preferredName": "NM_013275.6(ANKRD11):c.227-5C>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/450294",
        "RCV": [
          "RCV000522416",
          "RCV003640907"
        ],
        "variationId": 450294
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89357596G>C?assembly=hg19",
        "id": "chr16:g.89357596G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89291188G>C?assembly=hg38",
        "id": "chr16:g.89291188G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1303795065",
        "rs": 1303795065
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89357596-G-C?dataset=gnomad_r2_1",
        "id": "16-89357596-G-C",
        "variant": "16:89357596 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89291188-G-C?dataset=gnomad_r3",
        "id": "16-89291188-G-C",
        "variant": "16:89291188 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89291188-G-C?dataset=gnomad_r4",
        "id": "16-89291188-G-C",
        "variant": "16:89291188 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 89291188,
          "referenceAllele": "G",
          "start": 89291187
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89291188G>C",
        "CM000678.2:g.89291188G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 89357596,
          "referenceAllele": "G",
          "start": 89357595
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89357596G>C",
        "CM000678.1:g.89357596G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 87885097,
          "referenceAllele": "G",
          "start": 87885096
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87885097G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 204374,
          "referenceAllele": "C",
          "start": 204373
        }
      ],
      "hgvs": [
        "NG_032003.1:g.204374C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 204374,
          "referenceAllele": "C",
          "start": 204373
        }
      ],
      "hgvs": [
        "NG_032003.2:g.204374C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 687,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 687,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.10:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.227-5C>G"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.227-5C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:n.227-5C>G"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:n.227-5C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 539,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 539,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.10:c.*30-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*30-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 517,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 517,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.7:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1021,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1021,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378332.7:c.*489-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367583.2:n.*489-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 408,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 408,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000562275.6:c.*30-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454550.1:n.*30-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760353"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 443,
          "endIntronDirection": "-",
          "endIntronOffset": 5001,
          "referenceAllele": "C",
          "start": 443,
          "startIntronDirection": "-",
          "startIntronOffset": 5002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000567699.2:n.444-5002C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 649,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 649,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642333.1:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496651.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 307,
          "endIntronDirection": "-",
          "endIntronOffset": 2517,
          "referenceAllele": "C",
          "start": 307,
          "startIntronDirection": "-",
          "startIntronOffset": 2518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642443.1:c.227-2518C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493644.1:n.227-2518C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 602,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 602,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642600.1:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495226.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 428,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 428,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642695.1:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495449.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766882"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 544,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 544,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000643964.1:c.*30-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495181.1:n.*30-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767566"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 226,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 226,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000644285.1:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496476.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 363,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 363,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000644784.1:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496419.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767996"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 565,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 565,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000645278.1:c.346-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494850.1:n.346-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768262"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 344,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 344,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000646166.1:c.149-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493980.1:n.149-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 34,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 34,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000646345.1:n.35-5C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 423,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000646838.1:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495124.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 400,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 400,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000646975.1:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495608.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769170"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 687,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 687,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.8:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 446,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 446,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.9:c.*30-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*30-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 515,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 515,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.6:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1013,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1013,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378332.6:c.*489-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367583.2:n.*489-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 379,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 379,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000562275.5:c.*30-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454550.1:n.*30-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 259,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 259,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000564553.5:n.260-5C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 444,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 444,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000613312.4:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478018.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 758,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 758,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.1:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 684,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 684,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.1:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 687,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 687,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.5:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1057,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1057,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NR_045839.1:n.1058-5C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051432"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 464,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 464,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721181.1:c.125-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721244.1:n.125-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073977"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 502,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 502,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721184.2:c.-71-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721247.1:n.-71-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 744,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 744,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.1:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090191"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 449,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 449,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523052.1:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521354.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 882,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 882,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.1:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090193"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 797,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 797,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.1:c.125-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:n.125-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1070,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1070,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.1:c.125-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:n.125-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 819,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.1:c.98-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:n.98-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 699,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 699,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.1:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 748,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 748,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.3:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546876"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 853,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 853,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.2:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546877"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 767,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 767,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.2:c.125-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:n.125-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546878"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1052,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.2:c.125-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:n.125-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.2:c.98-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:n.98-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546880"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 670,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 670,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.2:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1234,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1234,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023182.2:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878671.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573985"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 856,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 856,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023183.1:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878672.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 853,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 853,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023184.1:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878673.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 494,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 494,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023185.1:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878674.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1230,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1230,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023186.1:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878675.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 582,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 582,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023187.1:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878676.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 764,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 764,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_024450244.1:c.125-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306012.1:n.125-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 687,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 687,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.6:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.227-5C>G"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.227-5C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:n.227-5C>G"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:n.227-5C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 758,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 758,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.2:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 684,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 684,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.2:c.227-5C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:n.227-5C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680510"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1057,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1057,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NR_045839.2:n.1058-5C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702417"
    }
  ],
  "type": "nucleotide"
}