{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139667922",
  "communityStandardTitle": [
    "NM_001099857.5(IKBKG):c.120_129dup (p.Glu44ProfsTer9)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26490[alleleid]",
        "alleleId": 26490,
        "preferredName": "NM_001099857.5(IKBKG):c.120_129dup (p.Glu44fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11451",
        "RCV": [
          "RCV000012204"
        ],
        "variationId": 11451
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2070949441",
        "rs": 2070949441
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 154552131,
          "referenceAllele": "",
          "start": 154552131
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154552122_154552131dup",
        "CM000685.2:g.154552122_154552131dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 153780346,
          "referenceAllele": "",
          "start": 153780346
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153780337_153780346dup",
        "CM000685.1:g.153780337_153780346dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 153433540,
          "referenceAllele": "",
          "start": 153433540
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153433531_153433540dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "GGCAGGTGAA",
          "end": 453,
          "referenceAllele": "",
          "start": 453
        }
      ],
      "hgvs": [
        "NG_009015.2:g.444_453dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001380"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 14888,
          "referenceAllele": "",
          "start": 14888
        }
      ],
      "hgvs": [
        "NG_009896.1:g.14879_14888dup",
        "LRG_70:g.14879_14888dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001690"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 398,
          "referenceAllele": "",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000413620.6:c.84_93dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398579.2:p.Glu32ProfsTer9",
        "hgvsWellDefined": "ENSP00000398579.2:p.[Glu32_Gly34delinsPro;Pro36_Glu37delinsPheArg;Leu39_Gln40delinsGly;Cys42_Gln55del;Asn57_Arg61del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824635"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 452,
          "referenceAllele": "",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000422680.6:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390368.3:p.Glu44ProfsTer9",
        "hgvsWellDefined": "ENSP00000390368.3:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824718"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 337,
          "referenceAllele": "",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000440286.6:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394934.2:p.Glu44ProfsTer9",
        "hgvsWellDefined": "ENSP00000394934.2:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824922"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 408,
          "referenceAllele": "",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000445622.6:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395205.2:p.Glu44ProfsTer9",
        "hgvsWellDefined": "ENSP00000395205.2:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824967"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 129,
          "referenceAllele": "",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000492469.3:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484275.2:p.Glu44ProfsTer9",
        "hgvsWellDefined": "ENSP00000484275.2:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825431"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 56,
          "endIntronDirection": "-",
          "endIntronOffset": 4161,
          "referenceAllele": "",
          "start": 56,
          "startIntronDirection": "-",
          "startIntronOffset": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000615186.5:c.-87-4171_-87-4162dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479144.2:n.-87-4171_-87-4162dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826470"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 543,
          "referenceAllele": "",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000686378.1:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509444.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "ENSP00000509444.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830540"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 504,
          "referenceAllele": "",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000686774.1:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510218.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "ENSP00000510218.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830736"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 504,
          "referenceAllele": "",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000687445.1:n.495_504dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831088"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 504,
          "referenceAllele": "",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000689906.1:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508630.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "ENSP00000508630.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832435"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 504,
          "referenceAllele": "",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000692816.1:n.495_504dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833904"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 270,
          "referenceAllele": "",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000692948.1:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508773.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "ENSP00000508773.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833976"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 504,
          "referenceAllele": "",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000693029.1:n.495_504dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834027"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 270,
          "referenceAllele": "",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000594239.6:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471166.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "ENSP00000471166.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761341",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000594239.6:c.120_129dup"
          },
          "RefSeq": {
            "hgvs": "NM_001099857.5:c.120_129dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000471166.1:p.Glu44ProfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_001093327.1:p.Glu44ProfsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 398,
          "referenceAllele": "",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000413620.5:c.84_93dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398579.1:p.Glu32ProfsTer9",
        "hgvsWellDefined": "ENSP00000398579.1:p.[Glu32_Gly34delinsPro;Pro36_Glu37delinsPheArg;Leu39_Gln40delinsGly;Cys42_Gln55del;Asn57_Arg61del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283154"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 452,
          "referenceAllele": "",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000422680.5:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390368.2:p.Glu44ProfsTer9",
        "hgvsWellDefined": "ENSP00000390368.2:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287390"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 337,
          "referenceAllele": "",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000440286.5:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394934.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "ENSP00000394934.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295815"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 408,
          "referenceAllele": "",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000445622.5:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395205.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "ENSP00000395205.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298365"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 583,
          "referenceAllele": "",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000594239.5:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471166.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "ENSP00000471166.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394562"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 387,
          "referenceAllele": "",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000611071.4:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479662.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "ENSP00000479662.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400682"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 248,
          "referenceAllele": "",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000611176.4:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478616.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "ENSP00000478616.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400734"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 269,
          "referenceAllele": "",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000612051.1:c.*112_*121dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480431.1:n.*112_*121dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401135"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 56,
          "endIntronDirection": "-",
          "endIntronOffset": 4161,
          "referenceAllele": "",
          "start": 56,
          "startIntronDirection": "-",
          "startIntronOffset": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000615186.4:c.-87-4171_-87-4162dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479144.1:n.-87-4171_-87-4162dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402505"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 252,
          "referenceAllele": "",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000615874.4:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483381.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "ENSP00000483381.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402800"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 249,
          "referenceAllele": "",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000617207.4:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484023.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "ENSP00000484023.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403383"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 141,
          "referenceAllele": "",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000617838.1:n.132_141dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403653"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 353,
          "referenceAllele": "",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000618670.4:c.324_333dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483825.1:p.Glu112ProfsTer9",
        "hgvsWellDefined": "ENSP00000483825.1:p.[Glu112_Gly114delinsPro;Pro116_Glu117delinsPheArg;Leu119_Gln120delinsGly;Cys122_Gln135del;Asn137_Arg141del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404042"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 252,
          "referenceAllele": "",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "ENST00000619941.4:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478979.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "ENSP00000478979.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404596"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 353,
          "referenceAllele": "",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "NM_001099856.3:c.324_333dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093326.2:p.Glu112ProfsTer9",
        "hgvsWellDefined": "NP_001093326.2:p.[Glu112_Gly114delinsPro;Pro116_Glu117delinsPheArg;Leu119_Gln120delinsGly;Cys122_Gln135del;Asn137_Arg141del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010835"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 543,
          "referenceAllele": "",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "NM_001099857.2:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093327.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "NP_001093327.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010836"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 543,
          "referenceAllele": "",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "NM_001145255.2:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138727.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "NP_001138727.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013536"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 387,
          "referenceAllele": "",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "NM_003639.4:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_003630.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "NP_003630.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028868"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 348,
          "referenceAllele": "",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "XM_005274760.3:c.324_333dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274817.1:p.Glu112ProfsTer9",
        "hgvsWellDefined": "XP_005274817.1:p.[Glu112_Gly114delinsPro;Pro116_Glu117delinsPheArg;Leu119_Gln120delinsGly;Cys122_Gln135del;Asn137_Arg141del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068073"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 348,
          "referenceAllele": "",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "XM_005274761.3:c.324_333dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274818.1:p.Glu112ProfsTer9",
        "hgvsWellDefined": "XP_005274818.1:p.[Glu112_Gly114delinsPro;Pro116_Glu117delinsPheArg;Leu119_Gln120delinsGly;Cys122_Gln135del;Asn137_Arg141del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068074"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 422,
          "referenceAllele": "",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "XM_005274764.3:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274821.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "XP_005274821.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068075"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 348,
          "referenceAllele": "",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "XM_011531203.1:c.324_333dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529505.1:p.Glu112ProfsTer9",
        "hgvsWellDefined": "XP_011529505.1:p.[Glu112_Gly114delinsPro;Pro116_Glu117delinsPheArg;Leu119_Gln120delinsGly;Cys122_Gln135del;Asn137_Arg141del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098243"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 332,
          "referenceAllele": "",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "XM_011531204.1:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529506.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "XP_011529506.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098244"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 476,
          "referenceAllele": "",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "XM_011531205.1:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529507.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "XP_011529507.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098245"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 367,
          "referenceAllele": "",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "XM_011531206.1:c.324_333dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529508.1:p.Glu112ProfsTer9",
        "hgvsWellDefined": "XP_011529508.1:p.[Glu112_Gly114delinsPro;Pro116_Glu117delinsPheArg;Leu119_Gln120delinsGly;Cys122_Gln135del;Asn137_Arg141del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098246"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 359,
          "referenceAllele": "",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "XM_011531207.1:c.324_333dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529509.1:p.Glu112ProfsTer9",
        "hgvsWellDefined": "XP_011529509.1:p.[Glu112_Gly114delinsPro;Pro116_Glu117delinsPheArg;Leu119_Gln120delinsGly;Cys122_Gln135del;Asn137_Arg141del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098247"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 357,
          "referenceAllele": "",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "NM_001099856.4:c.324_333dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093326.2:p.Glu112ProfsTer9",
        "hgvsWellDefined": "NP_001093326.2:p.[Glu112_Gly114delinsPro;Pro116_Glu117delinsPheArg;Leu119_Gln120delinsGly;Cys122_Gln135del;Asn137_Arg141del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511307"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 292,
          "referenceAllele": "",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "NM_001321396.1:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308325.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "NP_001308325.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514258"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 543,
          "referenceAllele": "",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "NM_001321397.1:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308326.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "NP_001308326.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514259"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 385,
          "referenceAllele": "",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "NM_001099856.6:c.324_333dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093326.2:p.Glu112ProfsTer9",
        "hgvsWellDefined": "NP_001093326.2:p.[Glu112_Gly114delinsPro;Pro116_Glu117delinsPheArg;Leu119_Gln120delinsGly;Cys122_Gln135del;Asn137_Arg141del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676529"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 270,
          "referenceAllele": "",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "NM_001099857.4:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093327.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "NP_001093327.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676530"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 270,
          "referenceAllele": "",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "NM_001145255.4:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138727.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "NP_001138727.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677840"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 320,
          "referenceAllele": "",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "NM_001321396.3:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308325.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "NP_001308325.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685332"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 270,
          "referenceAllele": "",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "NM_001321397.3:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308326.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "NP_001308326.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685333"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 298,
          "referenceAllele": "",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "NM_001377312.1:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364241.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "NP_001364241.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695096"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 298,
          "referenceAllele": "",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "NM_001377313.1:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364242.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "NP_001364242.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695097"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 270,
          "referenceAllele": "",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "NM_001377314.1:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364243.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "NP_001364243.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695098"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 270,
          "referenceAllele": "",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "NM_001377315.1:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364244.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "NP_001364244.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695099"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 270,
          "referenceAllele": "",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "NR_165197.1:n.261_270dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706041"
    },
    {
      "coordinates": [
        {
          "allele": "CCTGCCTTCA",
          "end": 270,
          "referenceAllele": "",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005961",
      "geneNCBI_id": 8517,
      "geneSymbol": "IKBKG",
      "hgvs": [
        "NM_001099857.5:c.120_129dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093327.1:p.Glu44ProfsTer9",
        "hgvsWellDefined": "NP_001093327.1:p.[Glu44_Gly46delinsPro;Pro48_Glu49delinsPheArg;Leu51_Gln52delinsGly;Cys54_Gln67del;Asn69_Arg73del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711993",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000594239.6:c.120_129dup"
          },
          "RefSeq": {
            "hgvs": "NM_001099857.5:c.120_129dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000471166.1:p.Glu44ProfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_001093327.1:p.Glu44ProfsTer9"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}