{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2840305411",
  "communityStandardTitle": [
    "NM_000525.4(KCNJ11):c.869dup (p.Val291GlyfsTer18)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17387223,
          "referenceAllele": "",
          "start": 17387223
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17387223dup",
        "CM000673.2:g.17387223dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17408770,
          "referenceAllele": "",
          "start": 17408770
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17408770dup",
        "CM000673.1:g.17408770dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17365346,
          "referenceAllele": "",
          "start": 17365346
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17365346dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6437,
          "referenceAllele": "",
          "start": 6437
        }
      ],
      "hgvs": [
        "NG_012446.1:g.6437dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002407"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682350.1:c.608dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508090.1:p.Val204GlyfsTer18",
        "hgvsWellDefined": "ENSP00000508090.1:p.[Val204_Thr207delinsGlyGlyAsnHis;Ile209_Tyr217delinsHisHisHisProGlyProHis;Ala219_Ile222del;Trp224Pro;Gln226del;Phe228_Val232del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 678,
          "referenceAllele": "",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682764.1:c.608dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506780.1:p.Val204GlyfsTer18",
        "hgvsWellDefined": "ENSP00000506780.1:p.[Val204_Thr207delinsGlyGlyAsnHis;Ile209_Tyr217delinsHisHisHisProGlyProHis;Ala219_Ile222del;Trp224Pro;Gln226del;Phe228_Val232del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1437,
          "referenceAllele": "",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.5:c.869dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:p.Val291GlyfsTer18",
        "hgvsWellDefined": "ENSP00000345708.4:p.[Val291_Thr294delinsGlyGlyAsnHis;Ile296_Tyr304delinsHisHisHisProGlyProHis;Ala306_Ile309del;Trp311Pro;Gln313del;Phe315_Val319del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747858",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.869dup"
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.869dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:p.Val291GlyfsTer18"
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:p.Val291GlyfsTer18"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1437,
          "referenceAllele": "",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.4:c.869dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:p.Val291GlyfsTer18",
        "hgvsWellDefined": "ENSP00000345708.4:p.[Val291_Thr294delinsGlyGlyAsnHis;Ile296_Tyr304delinsHisHisHisProGlyProHis;Ala306_Ile309del;Trp311Pro;Gln313del;Phe315_Val319del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 782,
          "referenceAllele": "",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000528731.1:c.608dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434755.1:p.Val204GlyfsTer18",
        "hgvsWellDefined": "ENSP00000434755.1:p.[Val204_Thr207delinsGlyGlyAsnHis;Ile209_Tyr217delinsHisHisHisProGlyProHis;Ala219_Ile222del;Trp224Pro;Gln226del;Phe228_Val232del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1437,
          "referenceAllele": "",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.3:c.869dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:p.Val291GlyfsTer18",
        "hgvsWellDefined": "NP_000516.3:p.[Val291_Thr294delinsGlyGlyAsnHis;Ile296_Tyr304delinsHisHisHisProGlyProHis;Ala306_Ile309del;Trp311Pro;Gln313del;Phe315_Val319del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006582"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 782,
          "referenceAllele": "",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.1:c.608dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:p.Val204GlyfsTer18",
        "hgvsWellDefined": "NP_001159762.1:p.[Val204_Thr207delinsGlyGlyAsnHis;Ile209_Tyr217delinsHisHisHisProGlyProHis;Ala219_Ile222del;Trp224Pro;Gln226del;Phe228_Val232del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 933,
          "referenceAllele": "",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.2:c.608dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:p.Val204GlyfsTer18",
        "hgvsWellDefined": "XP_006718289.1:p.[Val204_Thr207delinsGlyGlyAsnHis;Ile209_Tyr217delinsHisHisHisProGlyProHis;Ala219_Ile222del;Trp224Pro;Gln226del;Phe228_Val232del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1027,
          "referenceAllele": "",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XR_930867.1:n.1027dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.3:c.608dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:p.Val204GlyfsTer18",
        "hgvsWellDefined": "XP_006718289.1:p.[Val204_Thr207delinsGlyGlyAsnHis;Ile209_Tyr217delinsHisHisHisProGlyProHis;Ala219_Ile222del;Trp224Pro;Gln226del;Phe228_Val232del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_017017680.1:c.608dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873169.1:p.Val204GlyfsTer18",
        "hgvsWellDefined": "XP_016873169.1:p.[Val204_Thr207delinsGlyGlyAsnHis;Ile209_Tyr217delinsHisHisHisProGlyProHis;Ala219_Ile222del;Trp224Pro;Gln226del;Phe228_Val232del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "referenceAllele": "",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.2:c.608dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:p.Val204GlyfsTer18",
        "hgvsWellDefined": "NP_001159762.1:p.[Val204_Thr207delinsGlyGlyAsnHis;Ile209_Tyr217delinsHisHisHisProGlyProHis;Ala219_Ile222del;Trp224Pro;Gln226del;Phe228_Val232del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1000,
          "referenceAllele": "",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377296.1:c.608dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364225.1:p.Val204GlyfsTer18",
        "hgvsWellDefined": "NP_001364225.1:p.[Val204_Thr207delinsGlyGlyAsnHis;Ile209_Tyr217delinsHisHisHisProGlyProHis;Ala219_Ile222del;Trp224Pro;Gln226del;Phe228_Val232del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377297.1:c.608dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364226.1:p.Val204GlyfsTer18",
        "hgvsWellDefined": "NP_001364226.1:p.[Val204_Thr207delinsGlyGlyAsnHis;Ile209_Tyr217delinsHisHisHisProGlyProHis;Ala219_Ile222del;Trp224Pro;Gln226del;Phe228_Val232del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1437,
          "referenceAllele": "",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.4:c.869dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:p.Val291GlyfsTer18",
        "hgvsWellDefined": "NP_000516.3:p.[Val291_Thr294delinsGlyGlyAsnHis;Ile296_Tyr304delinsHisHisHisProGlyProHis;Ala306_Ile309del;Trp311Pro;Gln313del;Phe315_Val319del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.869dup"
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.869dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:p.Val291GlyfsTer18"
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:p.Val291GlyfsTer18"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}