{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2618928042",
  "communityStandardTitle": [
    "NM_000424.4(KRT5):c.1649dup (p.Ser551LeufsTer21)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61126080",
        "rs": 61126080
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-52515065-G-GC?dataset=gnomad_r4",
        "id": "12-52515065-G-GC",
        "variant": "12:52515065 G / GC"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 52515071,
          "referenceAllele": "",
          "start": 52515071
        }
      ],
      "hgvs": [
        "NC_000012.12:g.52515071dup",
        "CM000674.2:g.52515071dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 52908855,
          "referenceAllele": "",
          "start": 52908855
        }
      ],
      "hgvs": [
        "NC_000012.11:g.52908855dup",
        "CM000674.1:g.52908855dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 51195122,
          "referenceAllele": "",
          "start": 51195122
        }
      ],
      "hgvs": [
        "NC_000012.10:g.51195122dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10394,
          "referenceAllele": "",
          "start": 10394
        }
      ],
      "hgvs": [
        "NG_008297.1:g.10394dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001010"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1747,
          "referenceAllele": "",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000252242.9:c.1649dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252242.4:p.Ser551LeufsTer21",
        "hgvsWellDefined": "ENSP00000252242.4:p.[Ser551_Leu561delinsLeuTrpLeuGlnCysLysGlnTrpProArgAla;Val563Gly;Phe565_Gly569delinsLeuTrpGlnTrpArg;Ser571_Ser579del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741522",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252242.9:c.1649dup"
          },
          "RefSeq": {
            "hgvs": "NM_000424.4:c.1649dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252242.4:p.Ser551LeufsTer21"
          },
          "RefSeq": {
            "hgvs": "NP_000415.2:p.Ser551LeufsTer21"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2040,
          "referenceAllele": "",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000252242.8:c.1649dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252242.4:p.Ser551LeufsTer21",
        "hgvsWellDefined": "ENSP00000252242.4:p.[Ser551_Leu561delinsLeuTrpLeuGlnCysLysGlnTrpProArgAla;Val563Gly;Phe565_Gly569delinsLeuTrpGlnTrpArg;Ser571_Ser579del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249799"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 574,
          "referenceAllele": "",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000552952.1:n.574dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369548"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1812,
          "referenceAllele": "",
          "start": 1812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "NM_000424.3:c.1649dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000415.2:p.Ser551LeufsTer21",
        "hgvsWellDefined": "NP_000415.2:p.[Ser551_Leu561delinsLeuTrpLeuGlnCysLysGlnTrpProArgAla;Val563Gly;Phe565_Gly569delinsLeuTrpGlnTrpArg;Ser571_Ser579del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1747,
          "referenceAllele": "",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "NM_000424.4:c.1649dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000415.2:p.Ser551LeufsTer21",
        "hgvsWellDefined": "NP_000415.2:p.[Ser551_Leu561delinsLeuTrpLeuGlnCysLysGlnTrpProArgAla;Val563Gly;Phe565_Gly569delinsLeuTrpGlnTrpArg;Ser571_Ser579del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662436",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252242.9:c.1649dup"
          },
          "RefSeq": {
            "hgvs": "NM_000424.4:c.1649dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252242.4:p.Ser551LeufsTer21"
          },
          "RefSeq": {
            "hgvs": "NP_000415.2:p.Ser551LeufsTer21"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}