{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2618946340",
  "communityStandardTitle": [
    "NM_006121.4(KRT1):c.1669_1689dup (p.Ser557_Gly563dup)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267607656",
        "rs": 267607656
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-52675438-C-CACCTCCGGAGCCGTAGCTGCT?dataset=gnomad_r4",
        "id": "12-52675438-C-CACCTCCGGAGCCGTAGCTGCT",
        "variant": "12:52675438 C / CACCTCCGGAGCCGTAGCTGCT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "GTAGCTGCTACCTCCGGAGCC",
          "end": 52675471,
          "referenceAllele": "",
          "start": 52675471
        }
      ],
      "hgvs": [
        "NC_000012.12:g.52675451_52675471dup",
        "CM000674.2:g.52675451_52675471dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "GTAGCTGCTACCTCCGGAGCC",
          "end": 53069255,
          "referenceAllele": "",
          "start": 53069255
        }
      ],
      "hgvs": [
        "NC_000012.11:g.53069235_53069255dup",
        "CM000674.1:g.53069235_53069255dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "GTAGCTGCTACCTCCGGAGCC",
          "end": 51355522,
          "referenceAllele": "",
          "start": 51355522
        }
      ],
      "hgvs": [
        "NC_000012.10:g.51355502_51355522dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "TCCGGAGGTAGCAGCTACGGC",
          "end": 9969,
          "referenceAllele": "",
          "start": 9969
        }
      ],
      "hgvs": [
        "NG_008364.1:g.9949_9969dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001057"
    },
    {
      "coordinates": [
        {
          "allele": "TCCGGAGGTAGCAGCTACGGC",
          "end": 9969,
          "referenceAllele": "",
          "start": 9969
        }
      ],
      "hgvs": [
        "NG_008364.2:g.9949_9969dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706083"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TCCGGAGGTAGCAGCTACGGC",
          "end": 1748,
          "referenceAllele": "",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006412",
      "geneNCBI_id": 3848,
      "geneSymbol": "KRT1",
      "hgvs": [
        "ENST00000252244.3:c.1669_1689dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252244.3:p.Gly563_Gly564insSerSerTyrGlySerGlyGly",
        "hgvsWellDefined": "ENSP00000252244.3:p.Ser557_Gly563dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249800",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252244.3:c.1669_1689dup"
          },
          "RefSeq": {
            "hgvs": "NM_006121.4:c.1669_1689dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252244.3:p.Gly563_Gly564insSerSerTyrGlySerGlyGly"
          },
          "RefSeq": {
            "hgvs": "NP_006112.3:p.Gly563_Gly564insSerSerTyrGlySerGlyGly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079355177",
      "coordinates": [
        {
          "allele": "TCCGGAGGTAGCAGCTACGGC",
          "end": 1748,
          "referenceAllele": "",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006412",
      "geneNCBI_id": 3848,
      "geneSymbol": "KRT1",
      "hgvs": [
        "NM_006121.3:c.1669_1689dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_006112.3:p.Gly563_Gly564insSerSerTyrGlySerGlyGly",
        "hgvsWellDefined": "NP_006112.3:p.Ser557_Gly563dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079355177",
      "coordinates": [
        {
          "allele": "TCCGGAGGTAGCAGCTACGGC",
          "end": 1748,
          "referenceAllele": "",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006412",
      "geneNCBI_id": 3848,
      "geneSymbol": "KRT1",
      "hgvs": [
        "NM_006121.4:c.1669_1689dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_006112.3:p.Gly563_Gly564insSerSerTyrGlySerGlyGly",
        "hgvsWellDefined": "NP_006112.3:p.Ser557_Gly563dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667300",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252244.3:c.1669_1689dup"
          },
          "RefSeq": {
            "hgvs": "NM_006121.4:c.1669_1689dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252244.3:p.Gly563_Gly564insSerSerTyrGlySerGlyGly"
          },
          "RefSeq": {
            "hgvs": "NP_006112.3:p.Gly563_Gly564insSerSerTyrGlySerGlyGly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}