{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA252578",
  "communityStandardTitle": [
    "NM_000218.3(KCNQ1):c.1630_1635delinsGTTGAGA (p.Gln544ValfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=67667[alleleid]",
        "alleleId": 67667,
        "preferredName": "NM_000218.3(KCNQ1):c.1630_1635delinsGTTGAGA (p.Gln544fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/52999",
        "RCV": [
          "RCV000003272"
        ],
        "variationId": 52999
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2797229_2797234delinsGTTGAGA?assembly=hg19",
        "id": "chr11:g.2797229_2797234delinsGTTGAGA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2775999_2776004delinsGTTGAGA?assembly=hg38",
        "id": "chr11:g.2775999_2776004delinsGTTGAGA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397515637",
        "rs": 397515637
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "GTTGAGA",
          "end": 2776004,
          "referenceAllele": "CAGTAC",
          "start": 2775998
        }
      ],
      "hgvs": [
        "NC_000011.10:g.2775999_2776004delinsGTTGAGA",
        "CM000673.2:g.2775999_2776004delinsGTTGAGA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "GTTGAGA",
          "end": 2797234,
          "referenceAllele": "CAGTAC",
          "start": 2797228
        }
      ],
      "hgvs": [
        "NC_000011.9:g.2797229_2797234delinsGTTGAGA",
        "CM000673.1:g.2797229_2797234delinsGTTGAGA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "GTTGAGA",
          "end": 2753810,
          "referenceAllele": "CAGTAC",
          "start": 2753804
        }
      ],
      "hgvs": [
        "NC_000011.8:g.2753805_2753810delinsGTTGAGA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "GTTGAGA",
          "end": 336014,
          "referenceAllele": "CAGTAC",
          "start": 336008
        }
      ],
      "hgvs": [
        "NG_008935.1:g.336009_336014delinsGTTGAGA",
        "LRG_287:g.336009_336014delinsGTTGAGA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GTTGAGA",
          "end": 1310,
          "referenceAllele": "CAGTAC",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000496887.7:c.1273_1278delinsGTTGAGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434560.2:p.Gln425ValfsTer?",
        "hgvsWellDefined": "ENSP00000434560.2:p.[Gln425_Gln428delinsValGluIleAla;His430_Ser456delinsProProGlnProHisGlyAlaHisGlnGlyAlaAlaGluGluAlaGlyProValHisTrpGluAlaLeuThrValHisLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914172"
    },
    {
      "coordinates": [
        {
          "allele": "GTTGAGA",
          "end": 1186,
          "referenceAllele": "CAGTAC",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.2:c.1090_1095delinsGTTGAGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.2:p.Gln364ValfsTer?",
        "hgvsWellDefined": "ENSP00000495806.2:p.[Gln364_Gln367delinsValGluIleAla;His369_Ser395delinsProProGlnProHisGlyAlaHisGlnGlyAlaAlaGluGluAlaGlyProValHisTrpGluAlaLeuThrValHisLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914422"
    },
    {
      "coordinates": [
        {
          "allele": "GTTGAGA",
          "end": 1726,
          "referenceAllele": "CAGTAC",
          "start": 1720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.12:c.1630_1635delinsGTTGAGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Gln544ValfsTer?",
        "hgvsWellDefined": "ENSP00000155840.2:p.[Gln544_Gln547delinsValGluIleAla;His549_Ser575delinsProProGlnProHisGlyAlaHisGlnGlyAlaAlaGluGluAlaGlyProValHisTrpGluAlaLeuThrValHisLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.1630_1635delinsGTTGAGA"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.1630_1635delinsGTTGAGA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Gln544ValfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Gln544ValfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GTTGAGA",
          "end": 1523,
          "referenceAllele": "CAGTAC",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.6:c.1249_1254delinsGTTGAGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Gln417ValfsTer?",
        "hgvsWellDefined": "ENSP00000334497.5:p.[Gln417_Gln420delinsValGluIleAla;His422_Ser448delinsProProGlnProHisGlyAlaHisGlnGlyAlaAlaGluGluAlaGlyProValHisTrpGluAlaLeuThrValHisLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747502"
    },
    {
      "coordinates": [
        {
          "allele": "GTTGAGA",
          "end": 741,
          "referenceAllele": "CAGTAC",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.1:c.736_741delinsGTTGAGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.1:p.Gln246ValfsTer?",
        "hgvsWellDefined": "ENSP00000495806.1:p.[Gln246_Gln249delinsValGluIleAla;His251_Ser277delinsProProGlnProHisGlyAlaHisGlnGlyAlaAlaGluGluAlaGlyProValHisTrpGluAlaLeuThrValHisLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768943"
    },
    {
      "coordinates": [
        {
          "allele": "GTTGAGA",
          "end": 1743,
          "referenceAllele": "CAGTAC",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.9:c.1630_1635delinsGTTGAGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Gln544ValfsTer?",
        "hgvsWellDefined": "ENSP00000155840.2:p.[Gln544_Gln547delinsValGluIleAla;His549_Ser575delinsProProGlnProHisGlyAlaHisGlnGlyAlaAlaGluGluAlaGlyProValHisTrpGluAlaLeuThrValHisLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246642"
    },
    {
      "coordinates": [
        {
          "allele": "GTTGAGA",
          "end": 1528,
          "referenceAllele": "CAGTAC",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.5:c.1249_1254delinsGTTGAGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Gln417ValfsTer?",
        "hgvsWellDefined": "ENSP00000334497.5:p.[Gln417_Gln420delinsValGluIleAla;His422_Ser448delinsProProGlnProHisGlyAlaHisGlnGlyAlaAlaGluGluAlaGlyProValHisTrpGluAlaLeuThrValHisLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247174"
    },
    {
      "coordinates": [
        {
          "allele": "GTTGAGA",
          "end": 1743,
          "referenceAllele": "CAGTAC",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.2:c.1630_1635delinsGTTGAGA",
        "LRG_287t1:c.1630_1635delinsGTTGAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Gln544ValfsTer?",
        "hgvsWellDefined": "NP_000209.2:p.[Gln544_Gln547delinsValGluIleAla;His549_Ser575delinsProProGlnProHisGlyAlaHisGlnGlyAlaAlaGluGluAlaGlyProValHisTrpGluAlaLeuThrValHisLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006282"
    },
    {
      "coordinates": [
        {
          "allele": "GTTGAGA",
          "end": 1510,
          "referenceAllele": "CAGTAC",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_181798.1:c.1249_1254delinsGTTGAGA",
        "LRG_287t2:c.1249_1254delinsGTTGAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_861463.1:p.Gln417ValfsTer?",
        "hgvsWellDefined": "NP_861463.1:p.[Gln417_Gln420delinsValGluIleAla;His422_Ser448delinsProProGlnProHisGlyAlaHisGlnGlyAlaAlaGluGluAlaGlyProValHisTrpGluAlaLeuThrValHisLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043877"
    },
    {
      "coordinates": [
        {
          "allele": "GTTGAGA",
          "end": 1726,
          "referenceAllele": "CAGTAC",
          "start": 1720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.3:c.1630_1635delinsGTTGAGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Gln544ValfsTer?",
        "hgvsWellDefined": "NP_000209.2:p.[Gln544_Gln547delinsValGluIleAla;His549_Ser575delinsProProGlnProHisGlyAlaHisGlnGlyAlaAlaGluGluAlaGlyProValHisTrpGluAlaLeuThrValHisLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.1630_1635delinsGTTGAGA"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.1630_1635delinsGTTGAGA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Gln544ValfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Gln544ValfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}