{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6582420",
  "communityStandardTitle": [
    "NM_000424.4(KRT5):c.1675C>T (p.Arg559Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2010741",
        "active": true,
        "id": "COSM2010741"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=260023[alleleid]",
        "alleleId": 260023,
        "preferredName": "NM_000424.4(KRT5):c.1675C>T (p.Arg559Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265219",
        "RCV": [
          "RCV000256176",
          "RCV003401215"
        ],
        "variationId": 265219
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-52908824-G-A",
        "id": "12-52908824-G-A",
        "variant": "12:52908824 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52908824G>A?assembly=hg19",
        "id": "chr12:g.52908824G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52515040G>A?assembly=hg38",
        "id": "chr12:g.52515040G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/754242209",
        "rs": 754242209
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-52908824-G-A?dataset=gnomad_r2_1",
        "id": "12-52908824-G-A",
        "variant": "12:52908824 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-52515040-G-A?dataset=gnomad_r3",
        "id": "12-52515040-G-A",
        "variant": "12:52515040 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-52515040-G-A?dataset=gnomad_r4",
        "id": "12-52515040-G-A",
        "variant": "12:52515040 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 52515040,
          "referenceAllele": "G",
          "start": 52515039
        }
      ],
      "hgvs": [
        "NC_000012.12:g.52515040G>A",
        "CM000674.2:g.52515040G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 52908824,
          "referenceAllele": "G",
          "start": 52908823
        }
      ],
      "hgvs": [
        "NC_000012.11:g.52908824G>A",
        "CM000674.1:g.52908824G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 51195091,
          "referenceAllele": "G",
          "start": 51195090
        }
      ],
      "hgvs": [
        "NC_000012.10:g.51195091G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10420,
          "referenceAllele": "C",
          "start": 10419
        }
      ],
      "hgvs": [
        "NG_008297.1:g.10420C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001010"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1773,
          "referenceAllele": "C",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000252242.9:c.1675C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252242.4:p.Arg559Ter",
        "hgvsWellDefined": "ENSP00000252242.4:p.Arg559_Ser590delinsGlyLeuGlyValGlyPheGlySerGlyGlyGlySerSerSerSerValLysPheValSerThrThrSerSerSerArgLysSerPheLysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741522",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252242.9:c.1675C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000424.4:c.1675C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252242.4:p.Arg559Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000415.2:p.Arg559Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2066,
          "referenceAllele": "C",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000252242.8:c.1675C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252242.4:p.Arg559Ter",
        "hgvsWellDefined": "ENSP00000252242.4:p.Arg559_Ser590delinsGlyLeuGlyValGlyPheGlySerGlyGlyGlySerSerSerSerValLysPheValSerThrThrSerSerSerArgLysSerPheLysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000552952.1:n.600C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645484406",
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "C",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "NM_000424.3:c.1675C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000415.2:p.Arg559Ter",
        "hgvsWellDefined": "NP_000415.2:p.Arg559_Ser590delinsGlyLeuGlyValGlyPheGlySerGlyGlyGlySerSerSerSerValLysPheValSerThrThrSerSerSerArgLysSerPheLysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006486"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645484406",
      "coordinates": [
        {
          "allele": "T",
          "end": 1773,
          "referenceAllele": "C",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "NM_000424.4:c.1675C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000415.2:p.Arg559Ter",
        "hgvsWellDefined": "NP_000415.2:p.Arg559_Ser590delinsGlyLeuGlyValGlyPheGlySerGlyGlyGlySerSerSerSerValLysPheValSerThrThrSerSerSerArgLysSerPheLysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662436",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252242.9:c.1675C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000424.4:c.1675C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252242.4:p.Arg559Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000415.2:p.Arg559Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}