{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA279569",
  "communityStandardTitle": [
    "NM_013275.6(ANKRD11):c.6210_6211del (p.Lys2070AsnfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214453[alleleid]",
        "alleleId": 214453,
        "preferredName": "NM_013275.6(ANKRD11):c.6210_6211del (p.Lys2070fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217797",
        "RCV": [
          "RCV000201845"
        ],
        "variationId": 217797
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89346739_89346740del?assembly=hg19",
        "id": "chr16:g.89346739_89346740del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89280331_89280332del?assembly=hg38",
        "id": "chr16:g.89280331_89280332del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863225257",
        "rs": 863225257
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 89280332,
          "referenceAllele": "AC",
          "start": 89280330
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89280331_89280332del",
        "CM000678.2:g.89280331_89280332del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 89346740,
          "referenceAllele": "AC",
          "start": 89346738
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89346739_89346740del",
        "CM000678.1:g.89346739_89346740del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 87874241,
          "referenceAllele": "AC",
          "start": 87874239
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87874240_87874241del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 215231,
          "referenceAllele": "GT",
          "start": 215229
        }
      ],
      "hgvs": [
        "NG_032003.1:g.215230_215231del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005088"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 215231,
          "referenceAllele": "GT",
          "start": 215229
        }
      ],
      "hgvs": [
        "NG_032003.2:g.215230_215231del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6672,
          "referenceAllele": "GT",
          "start": 6670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.10:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "ENSP00000301030.4:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.6210_6211del"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.6210_6211del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Lys2070AsnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Lys2070AsnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6524,
          "referenceAllele": "GT",
          "start": 6522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.10:c.*6013_*6014del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*6013_*6014del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747095"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6502,
          "referenceAllele": "GT",
          "start": 6500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.7:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "ENSP00000367581.2:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752067"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6587,
          "referenceAllele": "GT",
          "start": 6585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642600.1:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495226.1:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "ENSP00000495226.1:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766832"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 744,
          "endIntronDirection": "-",
          "endIntronOffset": 5139,
          "referenceAllele": "GT",
          "start": 744,
          "startIntronDirection": "-",
          "startIntronOffset": 5141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000644285.1:c.745-5141_745-5140del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496476.1:n.745-5141_745-5140del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767741"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6672,
          "referenceAllele": "GT",
          "start": 6670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.8:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "ENSP00000301030.4:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254944"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6431,
          "referenceAllele": "GT",
          "start": 6429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.9:c.*6013_*6014del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*6013_*6014del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259288"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6500,
          "referenceAllele": "GT",
          "start": 6498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.6:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "ENSP00000367581.2:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271989"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 151,
          "endIntronDirection": "-",
          "endIntronOffset": 5139,
          "referenceAllele": "GT",
          "start": 151,
          "startIntronDirection": "-",
          "startIntronOffset": 5141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000562194.1:c.152-5141_152-5140del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376627"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6743,
          "referenceAllele": "GT",
          "start": 6741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.1:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "NP_001243111.1:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019125"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6669,
          "referenceAllele": "GT",
          "start": 6667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.1:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "NP_001243112.1:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6672,
          "referenceAllele": "GT",
          "start": 6670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.5:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "NP_037407.4:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032679"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6449,
          "referenceAllele": "GT",
          "start": 6447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721181.1:c.6108_6109del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721244.1:p.Lys2036AsnfsTer?",
        "hgvsWellDefined": "XP_006721244.1:p.[Lys2036_Ala2041delinsAsnThrSerGlySer;Leu2043_Ala2046delinsAlaGlyArgGly;Glu2048_Leu2061delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2063_Asn2066delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073977"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6487,
          "referenceAllele": "GT",
          "start": 6485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721184.2:c.5913_5914del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721247.1:p.Lys1971AsnfsTer?",
        "hgvsWellDefined": "XP_006721247.1:p.[Lys1971_Ala1976delinsAsnThrSerGlySer;Leu1978_Ala1981delinsAlaGlyArgGly;Glu1983_Leu1996delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro1998_Asn2001delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073978"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6729,
          "referenceAllele": "GT",
          "start": 6727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.1:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "XP_011521353.1:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090191"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6434,
          "referenceAllele": "GT",
          "start": 6432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523052.1:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521354.1:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "XP_011521354.1:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090192"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6867,
          "referenceAllele": "GT",
          "start": 6865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.1:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "XP_011521355.1:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090193"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6782,
          "referenceAllele": "GT",
          "start": 6780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.1:c.6108_6109del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Lys2036AsnfsTer?",
        "hgvsWellDefined": "XP_011521356.1:p.[Lys2036_Ala2041delinsAsnThrSerGlySer;Leu2043_Ala2046delinsAlaGlyArgGly;Glu2048_Leu2061delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2063_Asn2066delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090194"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7055,
          "referenceAllele": "GT",
          "start": 7053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.1:c.6108_6109del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Lys2036AsnfsTer?",
        "hgvsWellDefined": "XP_011521357.1:p.[Lys2036_Ala2041delinsAsnThrSerGlySer;Leu2043_Ala2046delinsAlaGlyArgGly;Glu2048_Leu2061delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2063_Asn2066delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090195"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6804,
          "referenceAllele": "GT",
          "start": 6802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.1:c.6081_6082del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Lys2027AsnfsTer?",
        "hgvsWellDefined": "XP_011521358.1:p.[Lys2027_Ala2032delinsAsnThrSerGlySer;Leu2034_Ala2037delinsAlaGlyArgGly;Glu2039_Leu2052delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2054_Asn2057delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090196"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6684,
          "referenceAllele": "GT",
          "start": 6682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.1:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "XP_011521359.1:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090197"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6733,
          "referenceAllele": "GT",
          "start": 6731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.3:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "XP_011521353.1:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546876"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6838,
          "referenceAllele": "GT",
          "start": 6836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.2:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "XP_011521355.1:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546877"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6752,
          "referenceAllele": "GT",
          "start": 6750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.2:c.6108_6109del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Lys2036AsnfsTer?",
        "hgvsWellDefined": "XP_011521356.1:p.[Lys2036_Ala2041delinsAsnThrSerGlySer;Leu2043_Ala2046delinsAlaGlyArgGly;Glu2048_Leu2061delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2063_Asn2066delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546878"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7037,
          "referenceAllele": "GT",
          "start": 7035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.2:c.6108_6109del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Lys2036AsnfsTer?",
        "hgvsWellDefined": "XP_011521357.1:p.[Lys2036_Ala2041delinsAsnThrSerGlySer;Leu2043_Ala2046delinsAlaGlyArgGly;Glu2048_Leu2061delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2063_Asn2066delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546879"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6774,
          "referenceAllele": "GT",
          "start": 6772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.2:c.6081_6082del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Lys2027AsnfsTer?",
        "hgvsWellDefined": "XP_011521358.1:p.[Lys2027_Ala2032delinsAsnThrSerGlySer;Leu2034_Ala2037delinsAlaGlyArgGly;Glu2039_Leu2052delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2054_Asn2057delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546880"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6655,
          "referenceAllele": "GT",
          "start": 6653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.2:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "XP_011521359.1:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546881"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7219,
          "referenceAllele": "GT",
          "start": 7217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023182.2:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878671.1:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "XP_016878671.1:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573985"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6841,
          "referenceAllele": "GT",
          "start": 6839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023183.1:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878672.1:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "XP_016878672.1:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573986"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6838,
          "referenceAllele": "GT",
          "start": 6836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023184.1:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878673.1:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "XP_016878673.1:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573987"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6479,
          "referenceAllele": "GT",
          "start": 6477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023185.1:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878674.1:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "XP_016878674.1:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573988"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7215,
          "referenceAllele": "GT",
          "start": 7213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023186.1:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878675.1:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "XP_016878675.1:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573989"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6567,
          "referenceAllele": "GT",
          "start": 6565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023187.1:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878676.1:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "XP_016878676.1:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573990"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6749,
          "referenceAllele": "GT",
          "start": 6747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_024450244.1:c.6108_6109del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306012.1:p.Lys2036AsnfsTer?",
        "hgvsWellDefined": "XP_024306012.1:p.[Lys2036_Ala2041delinsAsnThrSerGlySer;Leu2043_Ala2046delinsAlaGlyArgGly;Glu2048_Leu2061delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2063_Asn2066delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583785"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6672,
          "referenceAllele": "GT",
          "start": 6670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.6:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "NP_037407.4:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.6210_6211del"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.6210_6211del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Lys2070AsnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Lys2070AsnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6743,
          "referenceAllele": "GT",
          "start": 6741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.2:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "NP_001243111.1:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680509"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6669,
          "referenceAllele": "GT",
          "start": 6667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.2:c.6210_6211del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Lys2070AsnfsTer?",
        "hgvsWellDefined": "NP_001243112.1:p.[Lys2070_Ala2075delinsAsnThrSerGlySer;Leu2077_Ala2080delinsAlaGlyArgGly;Glu2082_Leu2095delinsArgAlaArgLeuCysSerArgCysGlySerGlyGlyGlySer;Pro2097_Asn2100delinsAlaProGlyLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680510"
    }
  ],
  "type": "nucleotide"
}