{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA124159",
  "communityStandardTitle": [
    "NM_000526.5(KRT14):c.54C>A (p.Cys18Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29665[alleleid]",
        "alleleId": 29665,
        "preferredName": "NM_000526.5(KRT14):c.54C>A (p.Cys18Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14626",
        "RCV": [
          "RCV000015731",
          "RCV000056744"
        ],
        "variationId": 14626
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39743033G>T?assembly=hg19",
        "id": "chr17:g.39743033G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41586781G>T?assembly=hg38",
        "id": "chr17:g.41586781G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/60831116",
        "rs": 60831116
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-39743033-G-T?dataset=gnomad_r2_1",
        "id": "17-39743033-G-T",
        "variant": "17:39743033 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41586781-G-T?dataset=gnomad_r4",
        "id": "17-41586781-G-T",
        "variant": "17:41586781 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 41586781,
          "referenceAllele": "G",
          "start": 41586780
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41586781G>T",
        "CM000679.2:g.41586781G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 39743033,
          "referenceAllele": "G",
          "start": 39743032
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39743033G>T",
        "CM000679.1:g.39743033G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 36996559,
          "referenceAllele": "G",
          "start": 36996558
        }
      ],
      "hgvs": [
        "NC_000017.9:g.36996559G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5115,
          "referenceAllele": "C",
          "start": 5114
        }
      ],
      "hgvs": [
        "NG_008624.1:g.5115C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001131"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 115,
          "referenceAllele": "C",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006416",
      "geneNCBI_id": 3861,
      "geneSymbol": "KRT14",
      "hgvs": [
        "ENST00000167586.7:c.54C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000167586.6:p.Cys18Ter",
        "hgvsWellDefined": "ENSP00000167586.6:p.Cys18_Asn472delinsGlyIleGlyGlyGlyIleGlyGlyGlySerSerArgIleSerSerValLeuAlaGlyGlySerCysArgAlaProSerThrTyrGlyGlyGlyLeuSerValSerSerSerArgPheSerSerGlyGlyAlaCysGlyLeuGlyGlyGlyTyrGlyGlyGlyPheSerSerSerSerSerSerPheGlySerGlyPheGlyGlyGlyTyrGlyGlyGlyLeuGlyAlaGlyLeuGlyGlyGlyPheGlyGlyGlyPheAlaGlyGlyAspGlyLeuLeuValGlySerGluLysValThrMetGlnAsnLeuAsnAspArgLeuAlaSerTyrLeuAspLysValArgAlaLeuGluGluAlaAsnAlaAspLeuGluValLysIleArgAspTrpTyrGlnArgGlnArgProAlaGluIleLysAspTyrSerProTyrPheLysThrIleGluAspLeuArgAsnLysIleLeuThrAlaThrValAspAsnAlaAsnValLeuLeuGlnIleAspAsnAlaArgLeuAlaAlaAspAspPheArgThrLysTyrGluThrGluLeuAsnLeuArgMetSerValGluAlaAspIleAsnGlyLeuArgArgValLeuAspGluLeuThrLeuAlaArgAlaAspLeuGluMetGlnIleGluSerLeuLysGluGluLeuAlaTyrLeuLysLysAsnHisGluGluGluMetAsnAlaLeuArgGlyGlnValGlyGlyAspValAsnValGluMetAspAlaAlaProGlyValAspLeuSerArgIleLeuAsnGluMetArgAspGlnTyrGluLysMetAlaGluLysAsnArgLysAspAlaGluGluTrpPhePheThrLysThrGluGluLeuAsnArgGluValAlaThrAsnSerGluLeuValGlnSerGlyLysSerGluIleSerGluLeuArgArgThrMetGlnAsnLeuGluIleGluLeuGlnSerGlnLeuSerMetLysAlaSerLeuGluAsnSerLeuGluGluThrLysGlyArgTyrCysMetGlnLeuAlaGlnIleGlnGluMetIleGlySerValGluGluGlnLeuAlaGlnLeuArgCysGluMetGluGlnGlnAsnGlnGluTyrLysIleLeuLeuAspValLysThrArgLeuGluGlnGluIleAlaThrTyrArgArgLeuLeuGluGlyGluAspAlaHisLeuSerSerSerGlnPheSerSerGlySerGlnSerSerArgAspValThrSerSerSerArgGlnIleArgThrLysValMetAspValHisAspGlyLysValValSerThrHisGluGlnValLeuArgThrLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740062",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000167586.7:c.54C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000526.5:c.54C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000167586.6:p.Cys18Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000517.3:p.Cys18Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 141,
          "referenceAllele": "C",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006416",
      "geneNCBI_id": 3861,
      "geneSymbol": "KRT14",
      "hgvs": [
        "ENST00000167586.6:c.54C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000167586.6:p.Cys18Ter",
        "hgvsWellDefined": "ENSP00000167586.6:p.Cys18_Asn472delinsGlyIleGlyGlyGlyIleGlyGlyGlySerSerArgIleSerSerValLeuAlaGlyGlySerCysArgAlaProSerThrTyrGlyGlyGlyLeuSerValSerSerSerArgPheSerSerGlyGlyAlaCysGlyLeuGlyGlyGlyTyrGlyGlyGlyPheSerSerSerSerSerSerPheGlySerGlyPheGlyGlyGlyTyrGlyGlyGlyLeuGlyAlaGlyLeuGlyGlyGlyPheGlyGlyGlyPheAlaGlyGlyAspGlyLeuLeuValGlySerGluLysValThrMetGlnAsnLeuAsnAspArgLeuAlaSerTyrLeuAspLysValArgAlaLeuGluGluAlaAsnAlaAspLeuGluValLysIleArgAspTrpTyrGlnArgGlnArgProAlaGluIleLysAspTyrSerProTyrPheLysThrIleGluAspLeuArgAsnLysIleLeuThrAlaThrValAspAsnAlaAsnValLeuLeuGlnIleAspAsnAlaArgLeuAlaAlaAspAspPheArgThrLysTyrGluThrGluLeuAsnLeuArgMetSerValGluAlaAspIleAsnGlyLeuArgArgValLeuAspGluLeuThrLeuAlaArgAlaAspLeuGluMetGlnIleGluSerLeuLysGluGluLeuAlaTyrLeuLysLysAsnHisGluGluGluMetAsnAlaLeuArgGlyGlnValGlyGlyAspValAsnValGluMetAspAlaAlaProGlyValAspLeuSerArgIleLeuAsnGluMetArgAspGlnTyrGluLysMetAlaGluLysAsnArgLysAspAlaGluGluTrpPhePheThrLysThrGluGluLeuAsnArgGluValAlaThrAsnSerGluLeuValGlnSerGlyLysSerGluIleSerGluLeuArgArgThrMetGlnAsnLeuGluIleGluLeuGlnSerGlnLeuSerMetLysAlaSerLeuGluAsnSerLeuGluGluThrLysGlyArgTyrCysMetGlnLeuAlaGlnIleGlnGluMetIleGlySerValGluGluGlnLeuAlaGlnLeuArgCysGluMetGluGlnGlnAsnGlnGluTyrLysIleLeuLeuAspValLysThrArgLeuGluGlnGluIleAlaThrTyrArgArgLeuLeuGluGlyGluAspAlaHisLeuSerSerSerGlnPheSerSerGlySerGlnSerSerArgAspValThrSerSerSerArgGlnIleArgThrLysValMetAspValHisAspGlyLysValValSerThrHisGluGlnValLeuArgThrLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124160",
      "coordinates": [
        {
          "allele": "A",
          "end": 115,
          "referenceAllele": "C",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006416",
      "geneNCBI_id": 3861,
      "geneSymbol": "KRT14",
      "hgvs": [
        "NM_000526.4:c.54C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000517.2:p.Cys18Ter",
        "hgvsWellDefined": "NP_000517.2:p.Cys18_Asn472delinsGlyIleGlyGlyGlyIleGlyGlyGlySerSerArgIleSerSerValLeuAlaGlyGlySerCysArgAlaProSerThrTyrGlyGlyGlyLeuSerValSerSerSerArgPheSerSerGlyGlyAlaTyrGlyLeuGlyGlyGlyTyrGlyGlyGlyPheSerSerSerSerSerSerPheGlySerGlyPheGlyGlyGlyTyrGlyGlyGlyLeuGlyAlaGlyLeuGlyGlyGlyPheGlyGlyGlyPheAlaGlyGlyAspGlyLeuLeuValGlySerGluLysValThrMetGlnAsnLeuAsnAspArgLeuAlaSerTyrLeuAspLysValArgAlaLeuGluGluAlaAsnAlaAspLeuGluValLysIleArgAspTrpTyrGlnArgGlnArgProAlaGluIleLysAspTyrSerProTyrPheLysThrIleGluAspLeuArgAsnLysIleLeuThrAlaThrValAspAsnAlaAsnValLeuLeuGlnIleAspAsnAlaArgLeuAlaAlaAspAspPheArgThrLysTyrGluThrGluLeuAsnLeuArgMetSerValGluAlaAspIleAsnGlyLeuArgArgValLeuAspGluLeuThrLeuAlaArgAlaAspLeuGluMetGlnIleGluSerLeuLysGluGluLeuAlaTyrLeuLysLysAsnHisGluGluGluMetAsnAlaLeuArgGlyGlnValGlyGlyAspValAsnValGluMetAspAlaAlaProGlyValAspLeuSerArgIleLeuAsnGluMetArgAspGlnTyrGluLysMetAlaGluLysAsnArgLysAspAlaGluGluTrpPhePheThrLysThrGluGluLeuAsnArgGluValAlaThrAsnSerGluLeuValGlnSerGlyLysSerGluIleSerGluLeuArgArgThrMetGlnAsnLeuGluIleGluLeuGlnSerGlnLeuSerMetLysAlaSerLeuGluAsnSerLeuGluGluThrLysGlyArgTyrCysMetGlnLeuAlaGlnIleGlnGluMetIleGlySerValGluGluGlnLeuAlaGlnLeuArgCysGluMetGluGlnGlnAsnGlnGluTyrLysIleLeuLeuAspValLysThrArgLeuGluGlnGluIleAlaThrTyrArgArgLeuLeuGluGlyGluAspAlaHisLeuSerSerSerGlnPheSerSerGlySerGlnSerSerArgAspValThrSerSerSerArgGlnIleArgThrLysValMetAspValHisAspGlyLysValValSerThrHisGluGlnValLeuArgThrLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915958820",
      "coordinates": [
        {
          "allele": "A",
          "end": 115,
          "referenceAllele": "C",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006416",
      "geneNCBI_id": 3861,
      "geneSymbol": "KRT14",
      "hgvs": [
        "NM_000526.5:c.54C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000517.3:p.Cys18Ter",
        "hgvsWellDefined": "NP_000517.3:p.Cys18_Asn472delinsGlyIleGlyGlyGlyIleGlyGlyGlySerSerArgIleSerSerValLeuAlaGlyGlySerCysArgAlaProSerThrTyrGlyGlyGlyLeuSerValSerSerSerArgPheSerSerGlyGlyAlaCysGlyLeuGlyGlyGlyTyrGlyGlyGlyPheSerSerSerSerSerSerPheGlySerGlyPheGlyGlyGlyTyrGlyGlyGlyLeuGlyAlaGlyLeuGlyGlyGlyPheGlyGlyGlyPheAlaGlyGlyAspGlyLeuLeuValGlySerGluLysValThrMetGlnAsnLeuAsnAspArgLeuAlaSerTyrLeuAspLysValArgAlaLeuGluGluAlaAsnAlaAspLeuGluValLysIleArgAspTrpTyrGlnArgGlnArgProAlaGluIleLysAspTyrSerProTyrPheLysThrIleGluAspLeuArgAsnLysIleLeuThrAlaThrValAspAsnAlaAsnValLeuLeuGlnIleAspAsnAlaArgLeuAlaAlaAspAspPheArgThrLysTyrGluThrGluLeuAsnLeuArgMetSerValGluAlaAspIleAsnGlyLeuArgArgValLeuAspGluLeuThrLeuAlaArgAlaAspLeuGluMetGlnIleGluSerLeuLysGluGluLeuAlaTyrLeuLysLysAsnHisGluGluGluMetAsnAlaLeuArgGlyGlnValGlyGlyAspValAsnValGluMetAspAlaAlaProGlyValAspLeuSerArgIleLeuAsnGluMetArgAspGlnTyrGluLysMetAlaGluLysAsnArgLysAspAlaGluGluTrpPhePheThrLysThrGluGluLeuAsnArgGluValAlaThrAsnSerGluLeuValGlnSerGlyLysSerGluIleSerGluLeuArgArgThrMetGlnAsnLeuGluIleGluLeuGlnSerGlnLeuSerMetLysAlaSerLeuGluAsnSerLeuGluGluThrLysGlyArgTyrCysMetGlnLeuAlaGlnIleGlnGluMetIleGlySerValGluGluGlnLeuAlaGlnLeuArgCysGluMetGluGlnGlnAsnGlnGluTyrLysIleLeuLeuAspValLysThrArgLeuGluGlnGluIleAlaThrTyrArgArgLeuLeuGluGlyGluAspAlaHisLeuSerSerSerGlnPheSerSerGlySerGlnSerSerArgAspValThrSerSerSerArgGlnIleArgThrLysValMetAspValHisAspGlyLysValValSerThrHisGluGlnValLeuArgThrLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662472",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000167586.7:c.54C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000526.5:c.54C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000167586.6:p.Cys18Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000517.3:p.Cys18Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}