{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397152434",
  "communityStandardTitle": [
    "NM_013275.6(ANKRD11):c.5911G>T (p.Val1971Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89347039C>A?assembly=hg19",
        "id": "chr16:g.89347039C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89280631C>A?assembly=hg38",
        "id": "chr16:g.89280631C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199737737",
        "rs": 199737737
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89280631-C-A?dataset=gnomad_r3",
        "id": "16-89280631-C-A",
        "variant": "16:89280631 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89280631-C-A?dataset=gnomad_r4",
        "id": "16-89280631-C-A",
        "variant": "16:89280631 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89280631,
          "referenceAllele": "C",
          "start": 89280630
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89280631C>A",
        "CM000678.2:g.89280631C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89347039,
          "referenceAllele": "C",
          "start": 89347038
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89347039C>A",
        "CM000678.1:g.89347039C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 87874540,
          "referenceAllele": "C",
          "start": 87874539
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87874540C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 214931,
          "referenceAllele": "G",
          "start": 214930
        }
      ],
      "hgvs": [
        "NG_032003.1:g.214931G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 214931,
          "referenceAllele": "G",
          "start": 214930
        }
      ],
      "hgvs": [
        "NG_032003.2:g.214931G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6372,
          "referenceAllele": "G",
          "start": 6371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.10:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Val1971Leu",
        "hgvsWellDefined": "ENSP00000301030.4:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.5911G>T"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.5911G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Val1971Leu"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Val1971Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6224,
          "referenceAllele": "G",
          "start": 6223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.10:c.*5714G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*5714G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6202,
          "referenceAllele": "G",
          "start": 6201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.7:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Val1971Leu",
        "hgvsWellDefined": "ENSP00000367581.2:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6287,
          "referenceAllele": "G",
          "start": 6286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642600.1:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495226.1:p.Val1971Leu",
        "hgvsWellDefined": "ENSP00000495226.1:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "endIntronDirection": "-",
          "endIntronOffset": 5439,
          "referenceAllele": "G",
          "start": 744,
          "startIntronDirection": "-",
          "startIntronOffset": 5440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000644285.1:c.745-5440G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496476.1:n.745-5440G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6372,
          "referenceAllele": "G",
          "start": 6371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.8:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Val1971Leu",
        "hgvsWellDefined": "ENSP00000301030.4:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6131,
          "referenceAllele": "G",
          "start": 6130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.9:c.*5714G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*5714G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6200,
          "referenceAllele": "G",
          "start": 6199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.6:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Val1971Leu",
        "hgvsWellDefined": "ENSP00000367581.2:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 151,
          "endIntronDirection": "-",
          "endIntronOffset": 5439,
          "referenceAllele": "G",
          "start": 151,
          "startIntronDirection": "-",
          "startIntronOffset": 5440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000562194.1:c.152-5440G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826374141",
      "coordinates": [
        {
          "allele": "T",
          "end": 6443,
          "referenceAllele": "G",
          "start": 6442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.1:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Val1971Leu",
        "hgvsWellDefined": "NP_001243111.1:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826375995",
      "coordinates": [
        {
          "allele": "T",
          "end": 6369,
          "referenceAllele": "G",
          "start": 6368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.1:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Val1971Leu",
        "hgvsWellDefined": "NP_001243112.1:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580357128",
      "coordinates": [
        {
          "allele": "T",
          "end": 6372,
          "referenceAllele": "G",
          "start": 6371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.5:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Val1971Leu",
        "hgvsWellDefined": "NP_037407.4:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6149,
          "referenceAllele": "G",
          "start": 6148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721181.1:c.5809G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721244.1:p.Val1937Leu",
        "hgvsWellDefined": "XP_006721244.1:p.Val1937Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6187,
          "referenceAllele": "G",
          "start": 6186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721184.2:c.5614G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721247.1:p.Val1872Leu",
        "hgvsWellDefined": "XP_006721247.1:p.Val1872Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6429,
          "referenceAllele": "G",
          "start": 6428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.1:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Val1971Leu",
        "hgvsWellDefined": "XP_011521353.1:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6134,
          "referenceAllele": "G",
          "start": 6133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523052.1:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521354.1:p.Val1971Leu",
        "hgvsWellDefined": "XP_011521354.1:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6567,
          "referenceAllele": "G",
          "start": 6566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.1:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Val1971Leu",
        "hgvsWellDefined": "XP_011521355.1:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6482,
          "referenceAllele": "G",
          "start": 6481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.1:c.5809G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Val1937Leu",
        "hgvsWellDefined": "XP_011521356.1:p.Val1937Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6755,
          "referenceAllele": "G",
          "start": 6754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.1:c.5809G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Val1937Leu",
        "hgvsWellDefined": "XP_011521357.1:p.Val1937Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6504,
          "referenceAllele": "G",
          "start": 6503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.1:c.5782G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Val1928Leu",
        "hgvsWellDefined": "XP_011521358.1:p.Val1928Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6384,
          "referenceAllele": "G",
          "start": 6383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.1:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Val1971Leu",
        "hgvsWellDefined": "XP_011521359.1:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6433,
          "referenceAllele": "G",
          "start": 6432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.3:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Val1971Leu",
        "hgvsWellDefined": "XP_011521353.1:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6538,
          "referenceAllele": "G",
          "start": 6537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.2:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Val1971Leu",
        "hgvsWellDefined": "XP_011521355.1:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6452,
          "referenceAllele": "G",
          "start": 6451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.2:c.5809G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Val1937Leu",
        "hgvsWellDefined": "XP_011521356.1:p.Val1937Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6737,
          "referenceAllele": "G",
          "start": 6736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.2:c.5809G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Val1937Leu",
        "hgvsWellDefined": "XP_011521357.1:p.Val1937Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6474,
          "referenceAllele": "G",
          "start": 6473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.2:c.5782G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Val1928Leu",
        "hgvsWellDefined": "XP_011521358.1:p.Val1928Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6355,
          "referenceAllele": "G",
          "start": 6354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.2:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Val1971Leu",
        "hgvsWellDefined": "XP_011521359.1:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6919,
          "referenceAllele": "G",
          "start": 6918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023182.2:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878671.1:p.Val1971Leu",
        "hgvsWellDefined": "XP_016878671.1:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6541,
          "referenceAllele": "G",
          "start": 6540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023183.1:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878672.1:p.Val1971Leu",
        "hgvsWellDefined": "XP_016878672.1:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6538,
          "referenceAllele": "G",
          "start": 6537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023184.1:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878673.1:p.Val1971Leu",
        "hgvsWellDefined": "XP_016878673.1:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6179,
          "referenceAllele": "G",
          "start": 6178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023185.1:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878674.1:p.Val1971Leu",
        "hgvsWellDefined": "XP_016878674.1:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6915,
          "referenceAllele": "G",
          "start": 6914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023186.1:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878675.1:p.Val1971Leu",
        "hgvsWellDefined": "XP_016878675.1:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6267,
          "referenceAllele": "G",
          "start": 6266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023187.1:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878676.1:p.Val1971Leu",
        "hgvsWellDefined": "XP_016878676.1:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6449,
          "referenceAllele": "G",
          "start": 6448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_024450244.1:c.5809G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306012.1:p.Val1937Leu",
        "hgvsWellDefined": "XP_024306012.1:p.Val1937Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580357128",
      "coordinates": [
        {
          "allele": "T",
          "end": 6372,
          "referenceAllele": "G",
          "start": 6371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.6:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Val1971Leu",
        "hgvsWellDefined": "NP_037407.4:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.5911G>T"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.5911G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Val1971Leu"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Val1971Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826374141",
      "coordinates": [
        {
          "allele": "T",
          "end": 6443,
          "referenceAllele": "G",
          "start": 6442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.2:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Val1971Leu",
        "hgvsWellDefined": "NP_001243111.1:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826375995",
      "coordinates": [
        {
          "allele": "T",
          "end": 6369,
          "referenceAllele": "G",
          "start": 6368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.2:c.5911G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Val1971Leu",
        "hgvsWellDefined": "NP_001243112.1:p.Val1971Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680510"
    }
  ],
  "type": "nucleotide"
}