{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10603562",
  "communityStandardTitle": [
    "NM_013275.6(ANKRD11):c.7062del (p.Ser2355ProfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=264983[alleleid]",
        "alleleId": 264983,
        "preferredName": "NM_013275.6(ANKRD11):c.7062del (p.Ser2355fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/280801",
        "RCV": [
          "RCV000274605"
        ],
        "variationId": 280801
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89345888del?assembly=hg19",
        "id": "chr16:g.89345888del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89279480del?assembly=hg38",
        "id": "chr16:g.89279480del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886041942",
        "rs": 886041942
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89279479-AG-A?dataset=gnomad_r4",
        "id": "16-89279479-AG-A",
        "variant": "16:89279479 AG / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 89279485,
          "referenceAllele": "G",
          "start": 89279484
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89279485del",
        "CM000678.2:g.89279485del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 89345893,
          "referenceAllele": "G",
          "start": 89345892
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89345893del",
        "CM000678.1:g.89345893del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 87873394,
          "referenceAllele": "G",
          "start": 87873393
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87873394del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 216082,
          "referenceAllele": "C",
          "start": 216081
        }
      ],
      "hgvs": [
        "NG_032003.1:g.216082del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005088"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 216082,
          "referenceAllele": "C",
          "start": 216081
        }
      ],
      "hgvs": [
        "NG_032003.2:g.216082del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7523,
          "referenceAllele": "C",
          "start": 7522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.10:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "ENSP00000301030.4:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.7062del"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.7062del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Ser2355ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Ser2355ProfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7375,
          "referenceAllele": "C",
          "start": 7374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.10:c.*6865del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*6865del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747095"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7353,
          "referenceAllele": "C",
          "start": 7352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.7:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "ENSP00000367581.2:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752067"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7438,
          "referenceAllele": "C",
          "start": 7437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642600.1:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495226.1:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "ENSP00000495226.1:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766832"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 744,
          "endIntronDirection": "-",
          "endIntronOffset": 4288,
          "referenceAllele": "C",
          "start": 744,
          "startIntronDirection": "-",
          "startIntronOffset": 4289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000644285.1:c.745-4289del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496476.1:n.745-4289del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767741"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7523,
          "referenceAllele": "C",
          "start": 7522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.8:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "ENSP00000301030.4:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254944"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7282,
          "referenceAllele": "C",
          "start": 7281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.9:c.*6865del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*6865del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259288"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7351,
          "referenceAllele": "C",
          "start": 7350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.6:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "ENSP00000367581.2:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271989"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 151,
          "endIntronDirection": "-",
          "endIntronOffset": 4288,
          "referenceAllele": "C",
          "start": 151,
          "startIntronDirection": "-",
          "startIntronOffset": 4289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000562194.1:c.152-4289del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376627"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 237,
          "referenceAllele": "C",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000623388.1:n.237del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406064"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7594,
          "referenceAllele": "C",
          "start": 7593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.1:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "NP_001243111.1:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019125"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7520,
          "referenceAllele": "C",
          "start": 7519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.1:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "NP_001243112.1:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7523,
          "referenceAllele": "C",
          "start": 7522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.5:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "NP_037407.4:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032679"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7300,
          "referenceAllele": "C",
          "start": 7299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721181.1:c.6960del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721244.1:p.Ser2321ProfsTer?",
        "hgvsWellDefined": "XP_006721244.1:p.[Ser2321_Cys2325delinsProArgArgSer;Thr2328Pro;Ala2330Leu;Val2332_Pro2350delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073977"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7338,
          "referenceAllele": "C",
          "start": 7337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721184.2:c.6765del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721247.1:p.Ser2256ProfsTer?",
        "hgvsWellDefined": "XP_006721247.1:p.[Ser2256_Cys2260delinsProArgArgSer;Thr2263Pro;Ala2265Leu;Val2267_Pro2285delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073978"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7580,
          "referenceAllele": "C",
          "start": 7579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.1:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "XP_011521353.1:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090191"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7285,
          "referenceAllele": "C",
          "start": 7284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523052.1:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521354.1:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "XP_011521354.1:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090192"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7718,
          "referenceAllele": "C",
          "start": 7717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.1:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "XP_011521355.1:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090193"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7633,
          "referenceAllele": "C",
          "start": 7632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.1:c.6960del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Ser2321ProfsTer?",
        "hgvsWellDefined": "XP_011521356.1:p.[Ser2321_Cys2325delinsProArgArgSer;Thr2328Pro;Ala2330Leu;Val2332_Pro2350delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090194"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7906,
          "referenceAllele": "C",
          "start": 7905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.1:c.6960del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Ser2321ProfsTer?",
        "hgvsWellDefined": "XP_011521357.1:p.[Ser2321_Cys2325delinsProArgArgSer;Thr2328Pro;Ala2330Leu;Val2332_Pro2350delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090195"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7655,
          "referenceAllele": "C",
          "start": 7654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.1:c.6933del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Ser2312ProfsTer?",
        "hgvsWellDefined": "XP_011521358.1:p.[Ser2312_Cys2316delinsProArgArgSer;Thr2319Pro;Ala2321Leu;Val2323_Pro2341delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090196"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7535,
          "referenceAllele": "C",
          "start": 7534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.1:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "XP_011521359.1:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090197"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7584,
          "referenceAllele": "C",
          "start": 7583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.3:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "XP_011521353.1:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546876"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7689,
          "referenceAllele": "C",
          "start": 7688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.2:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "XP_011521355.1:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546877"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7603,
          "referenceAllele": "C",
          "start": 7602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.2:c.6960del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Ser2321ProfsTer?",
        "hgvsWellDefined": "XP_011521356.1:p.[Ser2321_Cys2325delinsProArgArgSer;Thr2328Pro;Ala2330Leu;Val2332_Pro2350delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546878"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7888,
          "referenceAllele": "C",
          "start": 7887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.2:c.6960del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Ser2321ProfsTer?",
        "hgvsWellDefined": "XP_011521357.1:p.[Ser2321_Cys2325delinsProArgArgSer;Thr2328Pro;Ala2330Leu;Val2332_Pro2350delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546879"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7625,
          "referenceAllele": "C",
          "start": 7624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.2:c.6933del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Ser2312ProfsTer?",
        "hgvsWellDefined": "XP_011521358.1:p.[Ser2312_Cys2316delinsProArgArgSer;Thr2319Pro;Ala2321Leu;Val2323_Pro2341delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546880"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7506,
          "referenceAllele": "C",
          "start": 7505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.2:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "XP_011521359.1:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546881"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8070,
          "referenceAllele": "C",
          "start": 8069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023182.2:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878671.1:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "XP_016878671.1:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573985"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7692,
          "referenceAllele": "C",
          "start": 7691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023183.1:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878672.1:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "XP_016878672.1:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573986"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7689,
          "referenceAllele": "C",
          "start": 7688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023184.1:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878673.1:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "XP_016878673.1:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573987"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7330,
          "referenceAllele": "C",
          "start": 7329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023185.1:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878674.1:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "XP_016878674.1:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573988"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8066,
          "referenceAllele": "C",
          "start": 8065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023186.1:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878675.1:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "XP_016878675.1:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573989"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7418,
          "referenceAllele": "C",
          "start": 7417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023187.1:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878676.1:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "XP_016878676.1:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573990"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7600,
          "referenceAllele": "C",
          "start": 7599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_024450244.1:c.6960del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306012.1:p.Ser2321ProfsTer?",
        "hgvsWellDefined": "XP_024306012.1:p.[Ser2321_Cys2325delinsProArgArgSer;Thr2328Pro;Ala2330Leu;Val2332_Pro2350delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583785"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7523,
          "referenceAllele": "C",
          "start": 7522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.6:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "NP_037407.4:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.7062del"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.7062del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Ser2355ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Ser2355ProfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7594,
          "referenceAllele": "C",
          "start": 7593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.2:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "NP_001243111.1:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680509"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7520,
          "referenceAllele": "C",
          "start": 7519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.2:c.7062del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Ser2355ProfsTer?",
        "hgvsWellDefined": "NP_001243112.1:p.[Ser2355_Cys2359delinsProArgArgSer;Thr2362Pro;Ala2364Leu;Val2366_Pro2384delinsArgSerProGlyProArgProAlaAlaProArgThrThrThrProArgProSerIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680510"
    }
  ],
  "type": "nucleotide"
}