{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA250332",
  "communityStandardTitle": [
    "NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800AsnfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205782[alleleid]",
        "alleleId": 205782,
        "preferredName": "NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/209131",
        "RCV": [
          "RCV000191060",
          "RCV000255252",
          "RCV001256986",
          "RCV001376674",
          "RCV001266330"
        ],
        "variationId": 209131
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89350549_89350552del?assembly=hg19",
        "id": "chr16:g.89350549_89350552del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89284141_89284144del?assembly=hg38",
        "id": "chr16:g.89284141_89284144del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797045027",
        "rs": 797045027
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89284140-TTTTC-T?dataset=gnomad_r4",
        "id": "16-89284140-TTTTC-T",
        "variant": "16:89284140 TTTTC / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 89284147,
          "referenceAllele": "CTTT",
          "start": 89284143
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89284144_89284147del",
        "CM000678.2:g.89284144_89284147del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 89350555,
          "referenceAllele": "CTTT",
          "start": 89350551
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89350552_89350555del",
        "CM000678.1:g.89350552_89350555del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 87878056,
          "referenceAllele": "CTTT",
          "start": 87878052
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87878053_87878056del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 211421,
          "referenceAllele": "AGAA",
          "start": 211417
        }
      ],
      "hgvs": [
        "NG_032003.1:g.211418_211421del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005088"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 211421,
          "referenceAllele": "AGAA",
          "start": 211417
        }
      ],
      "hgvs": [
        "NG_032003.2:g.211418_211421del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2862,
          "referenceAllele": "AGAA",
          "start": 2858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.10:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.2398_2401del"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.2398_2401del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Glu800AsnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Glu800AsnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2714,
          "referenceAllele": "AGAA",
          "start": 2710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.10:c.*2201_*2204del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*2201_*2204del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747095"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2692,
          "referenceAllele": "AGAA",
          "start": 2688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.7:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752067"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2107,
          "referenceAllele": "AGAA",
          "start": 2103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642443.1:c.2023_2026del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493644.1:p.Glu675AsnfsTer?",
        "hgvsWellDefined": "ENSP00000493644.1:p.[Glu675_Leu677delinsAsnSerLys;Glu680_Asn694delinsArgPheIleGlyLysIleLeuLeuLeuThrAsnIleValThr;Asn696_Gln697delinsIleSer;Leu699_Lys705delinsTrpArgMetLysThrProAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766748"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2777,
          "referenceAllele": "AGAA",
          "start": 2773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642600.1:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495226.1:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766832"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 744,
          "endIntronDirection": "+",
          "endIntronOffset": 4387,
          "referenceAllele": "AGAA",
          "start": 744,
          "startIntronDirection": "+",
          "startIntronOffset": 4383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000644285.1:c.744+4384_744+4387del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496476.1:n.744+4384_744+4387del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767741"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2862,
          "referenceAllele": "AGAA",
          "start": 2858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.8:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254944"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2621,
          "referenceAllele": "AGAA",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.9:c.*2201_*2204del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*2201_*2204del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259288"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2690,
          "referenceAllele": "AGAA",
          "start": 2686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.6:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271989"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 151,
          "endIntronDirection": "+",
          "endIntronOffset": 4387,
          "referenceAllele": "AGAA",
          "start": 151,
          "startIntronDirection": "+",
          "startIntronOffset": 4383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000562194.1:c.151+4384_151+4387del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376627"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2933,
          "referenceAllele": "AGAA",
          "start": 2929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.1:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019125"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2859,
          "referenceAllele": "AGAA",
          "start": 2855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.1:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2862,
          "referenceAllele": "AGAA",
          "start": 2858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.5:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032679"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2639,
          "referenceAllele": "AGAA",
          "start": 2635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721181.1:c.2296_2299del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721244.1:p.Glu766AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073977"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2677,
          "referenceAllele": "AGAA",
          "start": 2673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721184.2:c.2101_2104del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721247.1:p.Glu701AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073978"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2919,
          "referenceAllele": "AGAA",
          "start": 2915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.1:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090191"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2624,
          "referenceAllele": "AGAA",
          "start": 2620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523052.1:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521354.1:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090192"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3057,
          "referenceAllele": "AGAA",
          "start": 3053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.1:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090193"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2972,
          "referenceAllele": "AGAA",
          "start": 2968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.1:c.2296_2299del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Glu766AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090194"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3245,
          "referenceAllele": "AGAA",
          "start": 3241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.1:c.2296_2299del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Glu766AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090195"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2994,
          "referenceAllele": "AGAA",
          "start": 2990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.1:c.2269_2272del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Glu757AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090196"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2874,
          "referenceAllele": "AGAA",
          "start": 2870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.1:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090197"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2923,
          "referenceAllele": "AGAA",
          "start": 2919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.3:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546876"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3028,
          "referenceAllele": "AGAA",
          "start": 3024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.2:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546877"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2942,
          "referenceAllele": "AGAA",
          "start": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.2:c.2296_2299del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Glu766AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546878"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3227,
          "referenceAllele": "AGAA",
          "start": 3223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.2:c.2296_2299del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Glu766AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546879"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2964,
          "referenceAllele": "AGAA",
          "start": 2960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.2:c.2269_2272del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Glu757AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546880"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2845,
          "referenceAllele": "AGAA",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.2:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546881"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3409,
          "referenceAllele": "AGAA",
          "start": 3405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023182.2:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878671.1:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573985"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3031,
          "referenceAllele": "AGAA",
          "start": 3027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023183.1:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878672.1:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573986"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3028,
          "referenceAllele": "AGAA",
          "start": 3024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023184.1:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878673.1:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573987"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2669,
          "referenceAllele": "AGAA",
          "start": 2665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023185.1:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878674.1:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573988"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3405,
          "referenceAllele": "AGAA",
          "start": 3401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023186.1:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878675.1:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573989"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2757,
          "referenceAllele": "AGAA",
          "start": 2753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023187.1:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878676.1:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573990"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2939,
          "referenceAllele": "AGAA",
          "start": 2935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_024450244.1:c.2296_2299del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306012.1:p.Glu766AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583785"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2862,
          "referenceAllele": "AGAA",
          "start": 2858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.6:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.2398_2401del"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.2398_2401del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Glu800AsnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Glu800AsnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2933,
          "referenceAllele": "AGAA",
          "start": 2929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.2:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680509"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2859,
          "referenceAllele": "AGAA",
          "start": 2855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.2:c.2398_2401del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Glu800AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680510"
    }
  ],
  "type": "nucleotide"
}