{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10654793",
  "communityStandardTitle": [
    "NM_172107.4(KCNQ2):c.1126del (p.Thr376LeufsTer13)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=353990[alleleid]",
        "alleleId": 353990,
        "preferredName": "NM_172107.4(KCNQ2):c.1126del (p.Thr376fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/369786",
        "RCV": [
          "RCV000678167"
        ],
        "variationId": 369786
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62062715del?assembly=hg19",
        "id": "chr20:g.62062715del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.63431362del?assembly=hg38",
        "id": "chr20:g.63431362del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516113",
        "rs": 1057516113
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "",
          "end": 63431364,
          "referenceAllele": "T",
          "start": 63431363
        }
      ],
      "hgvs": [
        "NC_000020.11:g.63431364del",
        "CM000682.2:g.63431364del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "",
          "end": 62062717,
          "referenceAllele": "T",
          "start": 62062716
        }
      ],
      "hgvs": [
        "NC_000020.10:g.62062717del",
        "CM000682.1:g.62062717del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "",
          "end": 61533161,
          "referenceAllele": "T",
          "start": 61533160
        }
      ],
      "hgvs": [
        "NC_000020.9:g.61533161del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 46279,
          "referenceAllele": "A",
          "start": 46278
        }
      ],
      "hgvs": [
        "NG_009004.1:g.46279del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001372"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 46279,
          "referenceAllele": "A",
          "start": 46278
        }
      ],
      "hgvs": [
        "NG_009004.2:g.46279del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616122"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1318,
          "referenceAllele": "A",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000706989.1:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516702.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "ENSP00000516702.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913294"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1318,
          "referenceAllele": "A",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000359125.7:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352035.2:p.Thr376LeufsTer13",
        "hgvsWellDefined": "ENSP00000352035.2:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749156",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359125.7:c.1126del"
          },
          "RefSeq": {
            "hgvs": "NM_172107.4:c.1126del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352035.2:p.Thr376LeufsTer13"
          },
          "RefSeq": {
            "hgvs": "NP_742105.1:p.Thr376LeufsTer13"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 31,
          "endIntronDirection": "+",
          "endIntronOffset": 2084,
          "referenceAllele": "A",
          "start": 31,
          "startIntronDirection": "+",
          "startIntronOffset": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000636638.1:n.31+2084del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763271"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1001,
          "endIntronDirection": "+",
          "endIntronOffset": 2447,
          "referenceAllele": "A",
          "start": 1001,
          "startIntronDirection": "+",
          "startIntronOffset": 2446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000637193.1:c.599+2447del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490734.1:n.599+2447del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763682"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1172,
          "referenceAllele": "A",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000344462.8:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339611.4:p.Thr376LeufsTer13",
        "hgvsWellDefined": "ENSP00000339611.4:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261982"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000357249.6:c.784del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349789.3:p.Thr262LeufsTer13",
        "hgvsWellDefined": "ENSP00000349789.3:p.[Thr262_Tyr265delinsLeuLysProThr;Ala267_Ile271del;Leu274_Gln276delinsAsp;Glu278_Leu280delinsSerPro;Asn282_Phe291del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264035"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1253,
          "referenceAllele": "A",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000359125.6:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352035.2:p.Thr376LeufsTer13",
        "hgvsWellDefined": "ENSP00000352035.2:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264683"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1160,
          "endIntronDirection": "+",
          "endIntronOffset": 2447,
          "referenceAllele": "A",
          "start": 1160,
          "startIntronDirection": "+",
          "startIntronOffset": 2446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000360480.7:c.1118+2447del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353668.3:n.1118+2447del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265147"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1252,
          "referenceAllele": "A",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000370221.3:n.1252del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS267943"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1253,
          "endIntronDirection": "+",
          "endIntronOffset": 2447,
          "referenceAllele": "A",
          "start": 1253,
          "startIntronDirection": "+",
          "startIntronOffset": 2446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000370224.5:c.1118+2447del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359244.2:n.1118+2447del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267945"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1210,
          "endIntronDirection": "+",
          "endIntronOffset": 2447,
          "referenceAllele": "A",
          "start": 1210,
          "startIntronDirection": "+",
          "startIntronOffset": 2446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000625514.2:c.1118+2447del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486040.1:n.1118+2447del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406588"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1340,
          "referenceAllele": "A",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000626839.2:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486706.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "ENSP00000486706.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406799"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 262,
          "endIntronDirection": "+",
          "endIntronOffset": 2447,
          "referenceAllele": "A",
          "start": 262,
          "startIntronDirection": "+",
          "startIntronOffset": 2446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000627221.2:c.262+2447del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406856"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1210,
          "endIntronDirection": "+",
          "endIntronOffset": 2447,
          "referenceAllele": "A",
          "start": 1210,
          "startIntronDirection": "+",
          "startIntronOffset": 2446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000629241.2:c.1118+2447del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487142.1:n.1118+2447del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407190"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1210,
          "endIntronDirection": "+",
          "endIntronOffset": 2447,
          "referenceAllele": "A",
          "start": 1210,
          "startIntronDirection": "+",
          "startIntronOffset": 2446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "ENST00000629676.2:c.1118+2447del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486194.1:n.1118+2447del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407259"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1295,
          "endIntronDirection": "+",
          "endIntronOffset": 2447,
          "referenceAllele": "A",
          "start": 1295,
          "startIntronDirection": "+",
          "startIntronOffset": 2446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_004518.4:c.1118+2447del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004509.2:n.1118+2447del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029676"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1303,
          "referenceAllele": "A",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172106.1:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_742104.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "NP_742104.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042648"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1303,
          "referenceAllele": "A",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172107.2:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_742105.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "NP_742105.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042649"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1303,
          "referenceAllele": "A",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172108.3:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_742106.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "NP_742106.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042650"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1252,
          "referenceAllele": "A",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_006723787.1:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723850.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "XP_006723850.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075200"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1252,
          "referenceAllele": "A",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528807.1:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527109.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "XP_011527109.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095878"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1252,
          "referenceAllele": "A",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528808.1:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527110.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "XP_011527110.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095879"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1244,
          "endIntronDirection": "+",
          "endIntronOffset": 2447,
          "referenceAllele": "A",
          "start": 1244,
          "startIntronDirection": "+",
          "startIntronOffset": 2446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528809.1:c.1118+2447del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527111.1:n.1118+2447del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095880"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1252,
          "referenceAllele": "A",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528810.1:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527112.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "XP_011527112.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095881"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1244,
          "endIntronDirection": "+",
          "endIntronOffset": 2447,
          "referenceAllele": "A",
          "start": 1244,
          "startIntronDirection": "+",
          "startIntronOffset": 2446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528811.1:c.1118+2447del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527113.1:n.1118+2447del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095882"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1252,
          "referenceAllele": "A",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528812.1:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527114.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "XP_011527114.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095883"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1126,
          "referenceAllele": "A",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528813.1:c.1000del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527115.1:p.Thr334LeufsTer13",
        "hgvsWellDefined": "XP_011527115.1:p.[Thr334_Tyr337delinsLeuLysProThr;Ala339_Ile343del;Leu346_Gln348delinsAsp;Glu350_Leu352delinsSerPro;Asn354_Phe363del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095884"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1180,
          "referenceAllele": "A",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528814.1:c.607del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527116.1:p.Thr203LeufsTer13",
        "hgvsWellDefined": "XP_011527116.1:p.[Thr203_Tyr206delinsLeuLysProThr;Ala208_Ile212del;Leu215_Gln217delinsAsp;Glu219_Leu221delinsSerPro;Asn223_Phe232del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095885"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1252,
          "referenceAllele": "A",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528815.1:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527117.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "XP_011527117.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095886"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1332,
          "endIntronDirection": "+",
          "endIntronOffset": 2447,
          "referenceAllele": "A",
          "start": 1332,
          "startIntronDirection": "+",
          "startIntronOffset": 2446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_004518.5:c.1118+2447del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004509.2:n.1118+2447del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525221"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1340,
          "referenceAllele": "A",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172106.2:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_742104.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "NP_742104.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526727"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1340,
          "referenceAllele": "A",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172107.3:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_742105.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "NP_742105.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526728"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1340,
          "referenceAllele": "A",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172108.4:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_742106.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "NP_742106.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526729"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1284,
          "referenceAllele": "A",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528810.2:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527112.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "XP_011527112.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549262"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1276,
          "endIntronDirection": "+",
          "endIntronOffset": 2447,
          "referenceAllele": "A",
          "start": 1276,
          "startIntronDirection": "+",
          "startIntronOffset": 2446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_011528811.2:c.1118+2447del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527113.1:n.1118+2447del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549263"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1284,
          "referenceAllele": "A",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_017027841.2:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883330.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "XP_016883330.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577727"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1284,
          "referenceAllele": "A",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_017027842.2:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883331.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "XP_016883331.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577728"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1145,
          "referenceAllele": "A",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_017027843.1:c.1057del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883332.1:p.Thr353LeufsTer13",
        "hgvsWellDefined": "XP_016883332.1:p.[Thr353_Tyr356delinsLeuLysProThr;Ala358_Ile362del;Leu365_Gln367delinsAsp;Glu369_Leu371delinsSerPro;Asn373_Phe382del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577729"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1284,
          "referenceAllele": "A",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "XM_017027844.2:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883333.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "XP_016883333.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577730"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1310,
          "endIntronDirection": "+",
          "endIntronOffset": 2447,
          "referenceAllele": "A",
          "start": 1310,
          "startIntronDirection": "+",
          "startIntronOffset": 2446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_004518.6:c.1118+2447del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004509.2:n.1118+2447del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696171"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1318,
          "referenceAllele": "A",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172106.3:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_742104.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "NP_742104.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700477"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1318,
          "referenceAllele": "A",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172107.4:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_742105.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "NP_742105.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700478",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359125.7:c.1126del"
          },
          "RefSeq": {
            "hgvs": "NM_172107.4:c.1126del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352035.2:p.Thr376LeufsTer13"
          },
          "RefSeq": {
            "hgvs": "NP_742105.1:p.Thr376LeufsTer13"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1318,
          "referenceAllele": "A",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_172108.5:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_742106.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "NP_742106.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700479"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1318,
          "referenceAllele": "A",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NM_001382235.1:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369164.1:p.Thr376LeufsTer13",
        "hgvsWellDefined": "NP_001369164.1:p.[Thr376_Tyr379delinsLeuLysProThr;Ala381_Ile385del;Leu388_Gln390delinsAsp;Glu392_Leu394delinsSerPro;Asn396_Phe405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722196"
    }
  ],
  "type": "nucleotide"
}