{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341656",
  "communityStandardTitle": [
    "NM_000217.3(KCNA1):c.748_750del (p.Phe250del)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33981[alleleid]",
        "alleleId": 33981,
        "preferredName": "NM_000217.3(KCNA1):c.745TTC[1] (p.Phe250del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2236795",
        "RCV": [
          "RCV002718822"
        ],
        "variationId": 2236795
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.5021292_5021294del?assembly=hg19",
        "id": "chr12:g.5021292_5021294del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.4912126_4912128del?assembly=hg38",
        "id": "chr12:g.4912126_4912128del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113994120",
        "rs": 113994120
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 4912128,
          "referenceAllele": "TTC",
          "start": 4912125
        }
      ],
      "hgvs": [
        "NC_000012.12:g.4912126_4912128del",
        "CM000674.2:g.4912126_4912128del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 5021294,
          "referenceAllele": "TTC",
          "start": 5021291
        }
      ],
      "hgvs": [
        "NC_000012.11:g.5021292_5021294del",
        "CM000674.1:g.5021292_5021294del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 4891555,
          "referenceAllele": "TTC",
          "start": 4891552
        }
      ],
      "hgvs": [
        "NC_000012.10:g.4891553_4891555del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7222,
          "referenceAllele": "TTC",
          "start": 7219
        }
      ],
      "hgvs": [
        "NG_011815.1:g.7220_7222del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001998"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1857,
          "referenceAllele": "TTC",
          "start": 1854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006218",
      "geneNCBI_id": 3736,
      "geneSymbol": "KCNA1",
      "hgvs": [
        "ENST00000382545.5:c.748_750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371985.3:p.Phe250del",
        "hgvsWellDefined": "ENSP00000371985.3:p.Phe250del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752670",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382545.5:c.748_750del"
          },
          "RefSeq": {
            "hgvs": "NM_000217.3:c.748_750del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371985.3:p.Phe250del"
          },
          "RefSeq": {
            "hgvs": "NP_000208.2:p.Phe250del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 105,
          "endIntronDirection": "+",
          "endIntronOffset": 1656,
          "referenceAllele": "TTC",
          "start": 105,
          "startIntronDirection": "+",
          "startIntronOffset": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006218",
      "geneNCBI_id": 3736,
      "geneSymbol": "KCNA1",
      "hgvs": [
        "ENST00000543874.3:n.105+1654_105+1656del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759750"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 588,
          "referenceAllele": "TTC",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006218",
      "geneNCBI_id": 3736,
      "geneSymbol": "KCNA1",
      "hgvs": [
        "ENST00000639306.1:c.586_588del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492506.1:p.Phe196del",
        "hgvsWellDefined": "ENSP00000492506.1:p.Phe196del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764968"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1857,
          "referenceAllele": "TTC",
          "start": 1854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006218",
      "geneNCBI_id": 3736,
      "geneSymbol": "KCNA1",
      "hgvs": [
        "ENST00000382545.3:c.748_750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371985.3:p.Phe250del",
        "hgvsWellDefined": "ENSP00000371985.3:p.Phe250del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273787"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 105,
          "endIntronDirection": "+",
          "endIntronOffset": 1656,
          "referenceAllele": "TTC",
          "start": 105,
          "startIntronDirection": "+",
          "startIntronOffset": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006218",
      "geneNCBI_id": 3736,
      "geneSymbol": "KCNA1",
      "hgvs": [
        "ENST00000541095.1:n.105+1654_105+1656del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362758"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 96,
          "endIntronDirection": "+",
          "endIntronOffset": 1656,
          "referenceAllele": "TTC",
          "start": 96,
          "startIntronDirection": "+",
          "startIntronOffset": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006218",
      "geneNCBI_id": 3736,
      "geneSymbol": "KCNA1",
      "hgvs": [
        "ENST00000543874.2:n.96+1654_96+1656del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA341657",
      "coordinates": [
        {
          "allele": "",
          "end": 1855,
          "referenceAllele": "TTC",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006218",
      "geneNCBI_id": 3736,
      "geneSymbol": "KCNA1",
      "hgvs": [
        "NM_000217.2:c.748_750del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000208.2:p.Phe250del",
        "hgvsWellDefined": "NP_000208.2:p.Phe250del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006281"
    },
    {
      "@id": "http://reg.genome.network/allele/PA341657",
      "coordinates": [
        {
          "allele": "",
          "end": 1857,
          "referenceAllele": "TTC",
          "start": 1854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006218",
      "geneNCBI_id": 3736,
      "geneSymbol": "KCNA1",
      "hgvs": [
        "NM_000217.3:c.748_750del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000208.2:p.Phe250del",
        "hgvsWellDefined": "NP_000208.2:p.Phe250del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510770",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382545.5:c.748_750del"
          },
          "RefSeq": {
            "hgvs": "NM_000217.3:c.748_750del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371985.3:p.Phe250del"
          },
          "RefSeq": {
            "hgvs": "NP_000208.2:p.Phe250del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}