{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA005409",
  "communityStandardTitle": [
    "NM_000218.3(KCNQ1):c.1149dup (p.Ala384CysfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=67633[alleleid]",
        "alleleId": 67633,
        "preferredName": "NM_000218.3(KCNQ1):c.1149dup (p.Ala384fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/52965",
        "RCV": [
          "RCV000577305"
        ],
        "variationId": 52965
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2608820dupT?assembly=hg19",
        "id": "chr11:g.2608820dupT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2587590dupT?assembly=hg38",
        "id": "chr11:g.2587590dupT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397508079",
        "rs": 397508079
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 2587590,
          "referenceAllele": "",
          "start": 2587590
        }
      ],
      "hgvs": [
        "NC_000011.10:g.2587590dup",
        "CM000673.2:g.2587590dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 2608820,
          "referenceAllele": "",
          "start": 2608820
        }
      ],
      "hgvs": [
        "NC_000011.9:g.2608820dup",
        "CM000673.1:g.2608820dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 2565396,
          "referenceAllele": "",
          "start": 2565396
        }
      ],
      "hgvs": [
        "NC_000011.8:g.2565396dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147600,
          "referenceAllele": "",
          "start": 147600
        }
      ],
      "hgvs": [
        "NG_008935.1:g.147600dup",
        "LRG_287:g.147600dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "referenceAllele": "",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000496887.7:c.792dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434560.2:p.Ala265CysfsTer?",
        "hgvsWellDefined": "ENSP00000434560.2:p.[Ala265_Asn267delinsCysArgGlu;Asp269_Ala280delinsArgLeuLeuHisLeuGluAspLeuHisProGluGly;Arg282_Ser290delinsProGluProHisSerAlaValThrGln;Lys292_Lys294delinsGlnThrGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 700,
          "referenceAllele": "",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.2:c.609dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.2:p.Ala204CysfsTer?",
        "hgvsWellDefined": "ENSP00000495806.2:p.[Ala204_Asn206delinsCysArgGlu;Asp208_Ala219delinsArgLeuLeuHisLeuGluAspLeuHisProGluGly;Arg221_Ser229delinsProGluProHisSerAlaValThrGln;Lys231_Lys233delinsGlnThrGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1240,
          "referenceAllele": "",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.12:c.1149dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Ala384CysfsTer?",
        "hgvsWellDefined": "ENSP00000155840.2:p.[Ala384_Asn386delinsCysArgGlu;Asp388_Ala399delinsArgLeuLeuHisLeuGluAspLeuHisProGluGly;Arg401_Ser409delinsProGluProHisSerAlaValThrGln;Lys411_Lys413delinsGlnThrGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.1149dup"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.1149dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Ala384CysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Ala384CysfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1037,
          "referenceAllele": "",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.6:c.768dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Ala257CysfsTer?",
        "hgvsWellDefined": "ENSP00000334497.5:p.[Ala257_Asn259delinsCysArgGlu;Asp261_Ala272delinsArgLeuLeuHisLeuGluAspLeuHisProGluGly;Arg274_Ser282delinsProGluProHisSerAlaValThrGln;Lys284_Lys286delinsGlnThrGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 255,
          "referenceAllele": "",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.1:c.255dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.1:p.Ala86CysfsTer?",
        "hgvsWellDefined": "ENSP00000495806.1:p.[Ala86_Asn88delinsCysArgGlu;Asp90_Ala101delinsArgLeuLeuHisLeuGluAspLeuHisProGluGly;Arg103_Ser111delinsProGluProHisSerAlaValThrGln;Lys113_Lys115delinsGlnThrGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1257,
          "referenceAllele": "",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.9:c.1149dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Ala384CysfsTer?",
        "hgvsWellDefined": "ENSP00000155840.2:p.[Ala384_Asn386delinsCysArgGlu;Asp388_Ala399delinsArgLeuLeuHisLeuGluAspLeuHisProGluGly;Arg401_Ser409delinsProGluProHisSerAlaValThrGln;Lys411_Lys413delinsGlnThrGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1042,
          "referenceAllele": "",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.5:c.768dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Ala257CysfsTer?",
        "hgvsWellDefined": "ENSP00000334497.5:p.[Ala257_Asn259delinsCysArgGlu;Asp261_Ala272delinsArgLeuLeuHisLeuGluAspLeuHisProGluGly;Arg274_Ser282delinsProGluProHisSerAlaValThrGln;Lys284_Lys286delinsGlnThrGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1257,
          "referenceAllele": "",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.2:c.1149dup",
        "LRG_287t1:c.1149dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Ala384CysfsTer?",
        "hgvsWellDefined": "NP_000209.2:p.[Ala384_Asn386delinsCysArgGlu;Asp388_Ala399delinsArgLeuLeuHisLeuGluAspLeuHisProGluGly;Arg401_Ser409delinsProGluProHisSerAlaValThrGln;Lys411_Lys413delinsGlnThrGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006282"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1024,
          "referenceAllele": "",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_181798.1:c.768dup",
        "LRG_287t2:c.768dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_861463.1:p.Ala257CysfsTer?",
        "hgvsWellDefined": "NP_861463.1:p.[Ala257_Asn259delinsCysArgGlu;Asp261_Ala272delinsArgLeuLeuHisLeuGluAspLeuHisProGluGly;Arg274_Ser282delinsProGluProHisSerAlaValThrGln;Lys284_Lys286delinsGlnThrGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1240,
          "referenceAllele": "",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.3:c.1149dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Ala384CysfsTer?",
        "hgvsWellDefined": "NP_000209.2:p.[Ala384_Asn386delinsCysArgGlu;Asp388_Ala399delinsArgLeuLeuHisLeuGluAspLeuHisProGluGly;Arg401_Ser409delinsProGluProHisSerAlaValThrGln;Lys411_Lys413delinsGlnThrGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.1149dup"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.1149dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Ala384CysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Ala384CysfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}