{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA216623",
  "communityStandardTitle": [
    "NM_000422.3(KRT17):c.296T>C (p.Leu99Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29637[alleleid]",
        "alleleId": 29637,
        "preferredName": "NM_000422.3(KRT17):c.296T>C (p.Leu99Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14598",
        "RCV": [
          "RCV000015702",
          "RCV000056523"
        ],
        "variationId": 14598
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39780466A>G?assembly=hg19",
        "id": "chr17:g.39780466A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41624214A>G?assembly=hg38",
        "id": "chr17:g.41624214A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28933089",
        "rs": 28933089
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41624214,
          "referenceAllele": "A",
          "start": 41624213
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41624214A>G",
        "CM000679.2:g.41624214A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 39780466,
          "referenceAllele": "A",
          "start": 39780465
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39780466A>G",
        "CM000679.1:g.39780466A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 37033992,
          "referenceAllele": "A",
          "start": 37033991
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37033992A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5417,
          "referenceAllele": "T",
          "start": 5416
        }
      ],
      "hgvs": [
        "NG_008625.1:g.5417T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 167499,
          "referenceAllele": "T",
          "start": 167498
        }
      ],
      "hgvs": [
        "NG_009090.2:g.167499T>C",
        "LRG_401:g.167499T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001423"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 362,
          "referenceAllele": "T",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006427",
      "geneNCBI_id": 3872,
      "geneSymbol": "KRT17",
      "hgvs": [
        "ENST00000311208.13:c.296T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308452.8:p.Leu99Pro",
        "hgvsWellDefined": "ENSP00000308452.8:p.Leu99Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745699",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311208.13:c.296T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000422.3:c.296T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308452.8:p.Leu99Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000413.1:p.Leu99Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 364,
          "referenceAllele": "T",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006427",
      "geneNCBI_id": 3872,
      "geneSymbol": "KRT17",
      "hgvs": [
        "ENST00000311208.12:c.296T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308452.8:p.Leu99Pro",
        "hgvsWellDefined": "ENSP00000308452.8:p.Leu99Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256493"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 100,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 100,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006427",
      "geneNCBI_id": 3872,
      "geneSymbol": "KRT17",
      "hgvs": [
        "ENST00000463128.5:c.-312-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468672.1:n.-312-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 362,
          "referenceAllele": "T",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006427",
      "geneNCBI_id": 3872,
      "geneSymbol": "KRT17",
      "hgvs": [
        "ENST00000491673.1:n.362T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 83,
          "referenceAllele": "T",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006427",
      "geneNCBI_id": 3872,
      "geneSymbol": "KRT17",
      "hgvs": [
        "ENST00000493253.5:n.83T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 308,
          "endIntronDirection": "+",
          "endIntronOffset": 20,
          "referenceAllele": "T",
          "start": 308,
          "startIntronDirection": "+",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006427",
      "geneNCBI_id": 3872,
      "geneSymbol": "KRT17",
      "hgvs": [
        "ENST00000540235.5:c.71+20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441751.2:n.71+20T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362292"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 251,
          "referenceAllele": "T",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006427",
      "geneNCBI_id": 3872,
      "geneSymbol": "KRT17",
      "hgvs": [
        "ENST00000577817.3:c.251T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467418.1:p.Leu84Pro",
        "hgvsWellDefined": "ENSP00000467418.1:p.Leu84Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105870",
      "coordinates": [
        {
          "allele": "C",
          "end": 417,
          "referenceAllele": "T",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006427",
      "geneNCBI_id": 3872,
      "geneSymbol": "KRT17",
      "hgvs": [
        "NM_000422.2:c.296T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000413.1:p.Leu99Pro",
        "hgvsWellDefined": "NP_000413.1:p.Leu99Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105870",
      "coordinates": [
        {
          "allele": "C",
          "end": 362,
          "referenceAllele": "T",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006427",
      "geneNCBI_id": 3872,
      "geneSymbol": "KRT17",
      "hgvs": [
        "NM_000422.3:c.296T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000413.1:p.Leu99Pro",
        "hgvsWellDefined": "NP_000413.1:p.Leu99Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662434",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311208.13:c.296T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000422.3:c.296T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308452.8:p.Leu99Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000413.1:p.Leu99Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}