{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350368",
  "communityStandardTitle": [
    "NM_000891.3(KCNJ2):c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=222732[alleleid]",
        "alleleId": 222732,
        "preferredName": "NM_000891.3(KCNJ2):c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/219878",
        "RCV": [
          "RCV000206325",
          "RCV001379062"
        ],
        "variationId": 219878
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.68171587_68171589delinsTTT?assembly=hg19",
        "id": "chr17:g.68171587_68171589delinsTTT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.70175446_70175448delinsTTT?assembly=hg38",
        "id": "chr17:g.70175446_70175448delinsTTT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/864622292",
        "rs": 864622292
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "TTT",
          "end": 70175448,
          "referenceAllele": "CCA",
          "start": 70175445
        }
      ],
      "hgvs": [
        "NC_000017.11:g.70175446_70175448delinsTTT",
        "CM000679.2:g.70175446_70175448delinsTTT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "TTT",
          "end": 68171589,
          "referenceAllele": "CCA",
          "start": 68171586
        }
      ],
      "hgvs": [
        "NC_000017.10:g.68171587_68171589delinsTTT",
        "CM000679.1:g.68171587_68171589delinsTTT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "TTT",
          "end": 65683184,
          "referenceAllele": "CCA",
          "start": 65683181
        }
      ],
      "hgvs": [
        "NC_000017.9:g.65683182_65683184delinsTTT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "TTT",
          "end": 10914,
          "referenceAllele": "CCA",
          "start": 10911
        }
      ],
      "hgvs": [
        "NG_008798.1:g.10912_10914delinsTTT",
        "LRG_328:g.10912_10914delinsTTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001218"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TTT",
          "end": 795,
          "referenceAllele": "CCA",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006263",
      "geneNCBI_id": 3759,
      "geneSymbol": "KCNJ2",
      "hgvs": [
        "ENST00000243457.4:c.407_409delinsTTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000243457.2:p.Ser136_Ile137delinsPhePhe",
        "hgvsWellDefined": "ENSP00000243457.2:p.Ser136_Ile137delinsPhePhe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741178",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000243457.4:c.407_409delinsTTT"
          },
          "RefSeq": {
            "hgvs": "NM_000891.3:c.407_409delinsTTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000243457.2:p.Ser136_Ile137delinsPhePhe"
          },
          "RefSeq": {
            "hgvs": "NP_000882.1:p.Ser136_Ile137delinsPhePhe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TTT",
          "end": 792,
          "referenceAllele": "CCA",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006263",
      "geneNCBI_id": 3759,
      "geneSymbol": "KCNJ2",
      "hgvs": [
        "ENST00000243457.3:c.407_409delinsTTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000243457.2:p.Ser136_Ile137delinsPhePhe",
        "hgvsWellDefined": "ENSP00000243457.2:p.Ser136_Ile137delinsPhePhe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249266"
    },
    {
      "coordinates": [
        {
          "allele": "TTT",
          "end": 810,
          "referenceAllele": "CCA",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006263",
      "geneNCBI_id": 3759,
      "geneSymbol": "KCNJ2",
      "hgvs": [
        "ENST00000535240.1:c.407_409delinsTTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441848.1:p.Ser136_Ile137delinsPhePhe",
        "hgvsWellDefined": "ENSP00000441848.1:p.Ser136_Ile137delinsPhePhe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359613"
    },
    {
      "@id": "http://reg.genome.network/allele/PA356175",
      "coordinates": [
        {
          "allele": "TTT",
          "end": 792,
          "referenceAllele": "CCA",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006263",
      "geneNCBI_id": 3759,
      "geneSymbol": "KCNJ2",
      "hgvs": [
        "NM_000891.2:c.407_409delinsTTT",
        "LRG_328t1:c.407_409delinsTTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000882.1:p.Ser136_Ile137delinsPhePhe",
        "hgvsWellDefined": "NP_000882.1:p.Ser136_Ile137delinsPhePhe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006918"
    },
    {
      "coordinates": [
        {
          "allele": "TTT",
          "end": 867,
          "referenceAllele": "CCA",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006263",
      "geneNCBI_id": 3759,
      "geneSymbol": "KCNJ2",
      "hgvs": [
        "XM_011524779.1:c.407_409delinsTTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523081.1:p.Ser136_Ile137delinsPhePhe",
        "hgvsWellDefined": "XP_011523081.1:p.Ser136_Ile137delinsPhePhe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA356175",
      "coordinates": [
        {
          "allele": "TTT",
          "end": 795,
          "referenceAllele": "CCA",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006263",
      "geneNCBI_id": 3759,
      "geneSymbol": "KCNJ2",
      "hgvs": [
        "NM_000891.3:c.407_409delinsTTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000882.1:p.Ser136_Ile137delinsPhePhe",
        "hgvsWellDefined": "NP_000882.1:p.Ser136_Ile137delinsPhePhe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674977",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000243457.4:c.407_409delinsTTT"
          },
          "RefSeq": {
            "hgvs": "NM_000891.3:c.407_409delinsTTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000243457.2:p.Ser136_Ile137delinsPhePhe"
          },
          "RefSeq": {
            "hgvs": "NP_000882.1:p.Ser136_Ile137delinsPhePhe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}