{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA006551",
  "communityStandardTitle": [
    "NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631HisfsTer14)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=67693[alleleid]",
        "alleleId": 67693,
        "preferredName": "NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/53025",
        "RCV": [
          "RCV000003285",
          "RCV000182287",
          "RCV002490606",
          "RCV001386478",
          "RCV002408547",
          "RCV003591641",
          "RCV004537220"
        ],
        "variationId": 53025
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2869094_2869113del?assembly=hg19",
        "id": "chr11:g.2869094_2869113del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2847864_2847883del?assembly=hg38",
        "id": "chr11:g.2847864_2847883del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397508103",
        "rs": 397508103
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 2847883,
          "referenceAllele": "CCAGAGAGGGCGGGGCCCAC",
          "start": 2847863
        }
      ],
      "hgvs": [
        "NC_000011.10:g.2847864_2847883del",
        "CM000673.2:g.2847864_2847883del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 2869113,
          "referenceAllele": "CCAGAGAGGGCGGGGCCCAC",
          "start": 2869093
        }
      ],
      "hgvs": [
        "NC_000011.9:g.2869094_2869113del",
        "CM000673.1:g.2869094_2869113del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 2825689,
          "referenceAllele": "CCAGAGAGGGCGGGGCCCAC",
          "start": 2825669
        }
      ],
      "hgvs": [
        "NC_000011.8:g.2825670_2825689del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 407893,
          "referenceAllele": "CCAGAGAGGGCGGGGCCCAC",
          "start": 407873
        }
      ],
      "hgvs": [
        "NG_008935.1:g.407874_407893del",
        "LRG_287:g.407874_407893del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1586,
          "referenceAllele": "CCAGAGAGGGCGGGGCCCAC",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000496887.7:c.1535_1554del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434560.2:p.Pro512HisfsTer14",
        "hgvsWellDefined": "ENSP00000434560.2:p.[Pro512_Gly516delinsHisHisPro;His518_Thr520delinsLeuArg;Pro522_Glu532delinsTrpArg;Phe534_Leu535delinsArgArg;Ser537_Val548del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914172"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2002,
          "referenceAllele": "CCAGAGAGGGCGGGGCCCAC",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.12:c.1892_1911del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Pro631HisfsTer14",
        "hgvsWellDefined": "ENSP00000155840.2:p.[Pro631_Gly635delinsHisHisPro;His637_Thr639delinsLeuArg;Pro641_Glu651delinsTrpArg;Phe653_Leu654delinsArgArg;Ser656_Val667del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.1892_1911del"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.1892_1911del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Pro631HisfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Pro631HisfsTer14"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1799,
          "referenceAllele": "CCAGAGAGGGCGGGGCCCAC",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.6:c.1511_1530del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Pro504HisfsTer14",
        "hgvsWellDefined": "ENSP00000334497.5:p.[Pro504_Gly508delinsHisHisPro;His510_Thr512delinsLeuArg;Pro514_Glu524delinsTrpArg;Phe526_Leu527delinsArgArg;Ser529_Val540del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747502"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 418,
          "referenceAllele": "CCAGAGAGGGCGGGGCCCAC",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000526095.2:c.296_315del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494939.1:p.Pro99HisfsTer14",
        "hgvsWellDefined": "ENSP00000494939.1:p.[Pro99_Gly103delinsHisHisPro;His105_Thr107delinsLeuArg;Pro109_Glu119delinsTrpArg;Phe121_Leu122delinsArgArg;Ser124_Val135del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758948"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2019,
          "referenceAllele": "CCAGAGAGGGCGGGGCCCAC",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.9:c.1892_1911del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Pro631HisfsTer14",
        "hgvsWellDefined": "ENSP00000155840.2:p.[Pro631_Gly635delinsHisHisPro;His637_Thr639delinsLeuArg;Pro641_Glu651delinsTrpArg;Phe653_Leu654delinsArgArg;Ser656_Val667del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246642"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1804,
          "referenceAllele": "CCAGAGAGGGCGGGGCCCAC",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.5:c.1511_1530del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Pro504HisfsTer14",
        "hgvsWellDefined": "ENSP00000334497.5:p.[Pro504_Gly508delinsHisHisPro;His510_Thr512delinsLeuArg;Pro514_Glu524delinsTrpArg;Phe526_Leu527delinsArgArg;Ser529_Val540del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247174"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 418,
          "referenceAllele": "CCAGAGAGGGCGGGGCCCAC",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000526095.1:n.399_418del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2019,
          "referenceAllele": "CCAGAGAGGGCGGGGCCCAC",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.2:c.1892_1911del",
        "LRG_287t1:c.1892_1911del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Pro631HisfsTer14",
        "hgvsWellDefined": "NP_000209.2:p.[Pro631_Gly635delinsHisHisPro;His637_Thr639delinsLeuArg;Pro641_Glu651delinsTrpArg;Phe653_Leu654delinsArgArg;Ser656_Val667del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006282"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1786,
          "referenceAllele": "CCAGAGAGGGCGGGGCCCAC",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_181798.1:c.1511_1530del",
        "LRG_287t2:c.1511_1530del"
      ],
      "proteinEffect": {
        "hgvs": "NP_861463.1:p.Pro504HisfsTer14",
        "hgvsWellDefined": "NP_861463.1:p.[Pro504_Gly508delinsHisHisPro;His510_Thr512delinsLeuArg;Pro514_Glu524delinsTrpArg;Phe526_Leu527delinsArgArg;Ser529_Val540del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043877"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 777,
          "endIntronDirection": "-",
          "endIntronOffset": 7420,
          "referenceAllele": "GGGCCCCGCCCTCTCTGGGT",
          "start": 777,
          "startIntronDirection": "-",
          "startIntronOffset": 7440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN042790",
      "geneNCBI_id": 338653,
      "geneSymbol": "KCNQ1-AS1",
      "hgvs": [
        "NR_130721.1:n.778-7440_778-7421del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056432"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2002,
          "referenceAllele": "CCAGAGAGGGCGGGGCCCAC",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.3:c.1892_1911del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Pro631HisfsTer14",
        "hgvsWellDefined": "NP_000209.2:p.[Pro631_Gly635delinsHisHisPro;His637_Thr639delinsLeuArg;Pro641_Glu651delinsTrpArg;Phe653_Leu654delinsArgArg;Ser656_Val667del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.1892_1911del"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.1892_1911del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Pro631HisfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Pro631HisfsTer14"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}