{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA286504588",
  "communityStandardTitle": [
    "NM_013275.6(ANKRD11):c.7750G>A (p.Ala2584Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1326980[alleleid]",
        "alleleId": 1326980,
        "preferredName": "NM_013275.6(ANKRD11):c.7750G>A (p.Ala2584Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1335967",
        "RCV": [
          "RCV001822149",
          "RCV002542494"
        ],
        "variationId": 1335967
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89337281C>T?assembly=hg19",
        "id": "chr16:g.89337281C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89270873C>T?assembly=hg38",
        "id": "chr16:g.89270873C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150393722",
        "rs": 150393722
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89337281-C-T?dataset=gnomad_r2_1",
        "id": "16-89337281-C-T",
        "variant": "16:89337281 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89270873-C-T?dataset=gnomad_r3",
        "id": "16-89270873-C-T",
        "variant": "16:89270873 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89270873-C-T?dataset=gnomad_r4",
        "id": "16-89270873-C-T",
        "variant": "16:89270873 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 89270873,
          "referenceAllele": "C",
          "start": 89270872
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89270873C>T",
        "CM000678.2:g.89270873C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 89337281,
          "referenceAllele": "C",
          "start": 89337280
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89337281C>T",
        "CM000678.1:g.89337281C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 87864782,
          "referenceAllele": "C",
          "start": 87864781
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87864782C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 224689,
          "referenceAllele": "G",
          "start": 224688
        }
      ],
      "hgvs": [
        "NG_032003.1:g.224689G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 224689,
          "referenceAllele": "G",
          "start": 224688
        }
      ],
      "hgvs": [
        "NG_032003.2:g.224689G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8211,
          "referenceAllele": "G",
          "start": 8210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.10:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Ala2584Thr",
        "hgvsWellDefined": "ENSP00000301030.4:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.7750G>A"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.7750G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Ala2584Thr"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Ala2584Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8063,
          "referenceAllele": "G",
          "start": 8062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.10:c.*7553G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*7553G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8041,
          "referenceAllele": "G",
          "start": 8040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.7:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Ala2584Thr",
        "hgvsWellDefined": "ENSP00000367581.2:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8126,
          "referenceAllele": "G",
          "start": 8125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642600.1:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495226.1:p.Ala2584Thr",
        "hgvsWellDefined": "ENSP00000495226.1:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000644285.1:c.1024G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496476.1:p.Ala342Thr",
        "hgvsWellDefined": "ENSP00000496476.1:p.Ala342Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767741"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8211,
          "referenceAllele": "G",
          "start": 8210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.8:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Ala2584Thr",
        "hgvsWellDefined": "ENSP00000301030.4:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7970,
          "referenceAllele": "G",
          "start": 7969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.9:c.*7553G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*7553G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259288"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8039,
          "referenceAllele": "G",
          "start": 8038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.6:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Ala2584Thr",
        "hgvsWellDefined": "ENSP00000367581.2:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000562194.1:c.431G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826374696",
      "coordinates": [
        {
          "allele": "A",
          "end": 8282,
          "referenceAllele": "G",
          "start": 8281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.1:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Ala2584Thr",
        "hgvsWellDefined": "NP_001243111.1:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826376566",
      "coordinates": [
        {
          "allele": "A",
          "end": 8208,
          "referenceAllele": "G",
          "start": 8207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.1:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Ala2584Thr",
        "hgvsWellDefined": "NP_001243112.1:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573090129",
      "coordinates": [
        {
          "allele": "A",
          "end": 8211,
          "referenceAllele": "G",
          "start": 8210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.5:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Ala2584Thr",
        "hgvsWellDefined": "NP_037407.4:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7988,
          "referenceAllele": "G",
          "start": 7987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721181.1:c.7648G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721244.1:p.Ala2550Thr",
        "hgvsWellDefined": "XP_006721244.1:p.Ala2550Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8026,
          "referenceAllele": "G",
          "start": 8025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721184.2:c.7453G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721247.1:p.Ala2485Thr",
        "hgvsWellDefined": "XP_006721247.1:p.Ala2485Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8268,
          "referenceAllele": "G",
          "start": 8267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.1:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Ala2584Thr",
        "hgvsWellDefined": "XP_011521353.1:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7973,
          "referenceAllele": "G",
          "start": 7972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523052.1:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521354.1:p.Ala2584Thr",
        "hgvsWellDefined": "XP_011521354.1:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8406,
          "referenceAllele": "G",
          "start": 8405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.1:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Ala2584Thr",
        "hgvsWellDefined": "XP_011521355.1:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090193"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8321,
          "referenceAllele": "G",
          "start": 8320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.1:c.7648G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Ala2550Thr",
        "hgvsWellDefined": "XP_011521356.1:p.Ala2550Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8594,
          "referenceAllele": "G",
          "start": 8593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.1:c.7648G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Ala2550Thr",
        "hgvsWellDefined": "XP_011521357.1:p.Ala2550Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8343,
          "referenceAllele": "G",
          "start": 8342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.1:c.7621G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Ala2541Thr",
        "hgvsWellDefined": "XP_011521358.1:p.Ala2541Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8223,
          "referenceAllele": "G",
          "start": 8222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.1:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Ala2584Thr",
        "hgvsWellDefined": "XP_011521359.1:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8272,
          "referenceAllele": "G",
          "start": 8271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.3:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Ala2584Thr",
        "hgvsWellDefined": "XP_011521353.1:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8377,
          "referenceAllele": "G",
          "start": 8376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.2:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Ala2584Thr",
        "hgvsWellDefined": "XP_011521355.1:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8291,
          "referenceAllele": "G",
          "start": 8290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.2:c.7648G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Ala2550Thr",
        "hgvsWellDefined": "XP_011521356.1:p.Ala2550Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8576,
          "referenceAllele": "G",
          "start": 8575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.2:c.7648G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Ala2550Thr",
        "hgvsWellDefined": "XP_011521357.1:p.Ala2550Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8313,
          "referenceAllele": "G",
          "start": 8312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.2:c.7621G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Ala2541Thr",
        "hgvsWellDefined": "XP_011521358.1:p.Ala2541Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8194,
          "referenceAllele": "G",
          "start": 8193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.2:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Ala2584Thr",
        "hgvsWellDefined": "XP_011521359.1:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8758,
          "referenceAllele": "G",
          "start": 8757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023182.2:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878671.1:p.Ala2584Thr",
        "hgvsWellDefined": "XP_016878671.1:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573985"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8380,
          "referenceAllele": "G",
          "start": 8379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023183.1:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878672.1:p.Ala2584Thr",
        "hgvsWellDefined": "XP_016878672.1:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8377,
          "referenceAllele": "G",
          "start": 8376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023184.1:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878673.1:p.Ala2584Thr",
        "hgvsWellDefined": "XP_016878673.1:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8018,
          "referenceAllele": "G",
          "start": 8017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023185.1:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878674.1:p.Ala2584Thr",
        "hgvsWellDefined": "XP_016878674.1:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8754,
          "referenceAllele": "G",
          "start": 8753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023186.1:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878675.1:p.Ala2584Thr",
        "hgvsWellDefined": "XP_016878675.1:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8106,
          "referenceAllele": "G",
          "start": 8105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023187.1:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878676.1:p.Ala2584Thr",
        "hgvsWellDefined": "XP_016878676.1:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8288,
          "referenceAllele": "G",
          "start": 8287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_024450244.1:c.7648G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306012.1:p.Ala2550Thr",
        "hgvsWellDefined": "XP_024306012.1:p.Ala2550Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573090129",
      "coordinates": [
        {
          "allele": "A",
          "end": 8211,
          "referenceAllele": "G",
          "start": 8210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.6:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Ala2584Thr",
        "hgvsWellDefined": "NP_037407.4:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.7750G>A"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.7750G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Ala2584Thr"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Ala2584Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826374696",
      "coordinates": [
        {
          "allele": "A",
          "end": 8282,
          "referenceAllele": "G",
          "start": 8281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.2:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Ala2584Thr",
        "hgvsWellDefined": "NP_001243111.1:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826376566",
      "coordinates": [
        {
          "allele": "A",
          "end": 8208,
          "referenceAllele": "G",
          "start": 8207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.2:c.7750G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Ala2584Thr",
        "hgvsWellDefined": "NP_001243112.1:p.Ala2584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680510"
    }
  ],
  "type": "nucleotide"
}