{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA216692",
  "communityStandardTitle": [
    "NM_000424.4(KRT5):c.1649del (p.Gly550AlafsTer?)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29694[alleleid]",
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        "preferredName": "NM_000424.4(KRT5):c.1649del (p.Gly550fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14655",
        "RCV": [
          "RCV000015761",
          "RCV000056578",
          "RCV001352788",
          "RCV001814959",
          "RCV003894806"
        ],
        "variationId": 14655
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52908850del?assembly=hg19",
        "id": "chr12:g.52908850del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52515066del?assembly=hg38",
        "id": "chr12:g.52515066del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61126080",
        "rs": 61126080
      }
    ]
  },
  "genomicAlleles": [
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      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 52515071,
          "referenceAllele": "C",
          "start": 52515070
        }
      ],
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 52908855,
          "referenceAllele": "C",
          "start": 52908854
        }
      ],
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        "NC_000012.11:g.52908855del",
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      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 51195122,
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          "start": 51195121
        }
      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
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          "end": 10394,
          "referenceAllele": "G",
          "start": 10393
        }
      ],
      "hgvs": [
        "NG_008297.1:g.10394del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001010"
    }
  ],
  "transcriptAlleles": [
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      "coordinates": [
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        }
      ],
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      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
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        "ENST00000252242.9:c.1649del"
      ],
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        "hgvs": "ENSP00000252242.4:p.Gly550AlafsTer?",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741522",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
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          }
        },
        "protein": {
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          },
          "RefSeq": {
            "hgvs": "NP_000415.2:p.Gly550AlafsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
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          "allele": "",
          "end": 2040,
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      "geneNCBI_id": 3852,
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249799"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 574,
          "referenceAllele": "G",
          "start": 573
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      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS369548"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1812,
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          "start": 1811
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      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "NM_000424.3:c.1649del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000415.2:p.Gly550AlafsTer?",
        "hgvsWellDefined": "NP_000415.2:p.[Gly550_Arg559delinsAlaLeuAlaSerValGlnAlaValAlaGlu;Leu561Trp;Val563_Gly568delinsTrpAlaLeuAlaValAla;Gly570_Ser579delinsValAlaAlaProAlaSerAsnLeuSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006486"
    },
    {
      "coordinates": [
        {
          "allele": "",
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      "geneSymbol": "KRT5",
      "hgvs": [
        "NM_000424.4:c.1649del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000415.2:p.Gly550AlafsTer?",
        "hgvsWellDefined": "NP_000415.2:p.[Gly550_Arg559delinsAlaLeuAlaSerValGlnAlaValAlaGlu;Leu561Trp;Val563_Gly568delinsTrpAlaLeuAlaValAla;Gly570_Ser579delinsValAlaAlaProAlaSerAsnLeuSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662436",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252242.9:c.1649del"
          },
          "RefSeq": {
            "hgvs": "NM_000424.4:c.1649del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252242.4:p.Gly550AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000415.2:p.Gly550AlafsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}