{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA216885",
  "communityStandardTitle": [
    "NM_000526.5(KRT14):c.19C>T (p.Gln7Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77230[alleleid]",
        "alleleId": 77230,
        "preferredName": "NM_000526.5(KRT14):c.19C>T (p.Gln7Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66333",
        "RCV": [
          "RCV000056699",
          "RCV000415603"
        ],
        "variationId": 66333
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-39743068-G-A",
        "id": "17-39743068-G-A",
        "variant": "17:39743068 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39743068G>A?assembly=hg19",
        "id": "chr17:g.39743068G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41586816G>A?assembly=hg38",
        "id": "chr17:g.41586816G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267607391",
        "rs": 267607391
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-39743068-G-A?dataset=gnomad_r2_1",
        "id": "17-39743068-G-A",
        "variant": "17:39743068 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41586816-G-A?dataset=gnomad_r3",
        "id": "17-41586816-G-A",
        "variant": "17:41586816 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41586816-G-A?dataset=gnomad_r4",
        "id": "17-41586816-G-A",
        "variant": "17:41586816 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41586816,
          "referenceAllele": "G",
          "start": 41586815
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41586816G>A",
        "CM000679.2:g.41586816G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 39743068,
          "referenceAllele": "G",
          "start": 39743067
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39743068G>A",
        "CM000679.1:g.39743068G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 36996594,
          "referenceAllele": "G",
          "start": 36996593
        }
      ],
      "hgvs": [
        "NC_000017.9:g.36996594G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5080,
          "referenceAllele": "C",
          "start": 5079
        }
      ],
      "hgvs": [
        "NG_008624.1:g.5080C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001131"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 80,
          "referenceAllele": "C",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006416",
      "geneNCBI_id": 3861,
      "geneSymbol": "KRT14",
      "hgvs": [
        "ENST00000167586.7:c.19C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000167586.6:p.Gln7Ter",
        "hgvsWellDefined": "ENSP00000167586.6:p.Gln7_Asn472delinsPheThrSerSerSerSerMetLysGlySerCysGlyIleGlyGlyGlyIleGlyGlyGlySerSerArgIleSerSerValLeuAlaGlyGlySerCysArgAlaProSerThrTyrGlyGlyGlyLeuSerValSerSerSerArgPheSerSerGlyGlyAlaCysGlyLeuGlyGlyGlyTyrGlyGlyGlyPheSerSerSerSerSerSerPheGlySerGlyPheGlyGlyGlyTyrGlyGlyGlyLeuGlyAlaGlyLeuGlyGlyGlyPheGlyGlyGlyPheAlaGlyGlyAspGlyLeuLeuValGlySerGluLysValThrMetGlnAsnLeuAsnAspArgLeuAlaSerTyrLeuAspLysValArgAlaLeuGluGluAlaAsnAlaAspLeuGluValLysIleArgAspTrpTyrGlnArgGlnArgProAlaGluIleLysAspTyrSerProTyrPheLysThrIleGluAspLeuArgAsnLysIleLeuThrAlaThrValAspAsnAlaAsnValLeuLeuGlnIleAspAsnAlaArgLeuAlaAlaAspAspPheArgThrLysTyrGluThrGluLeuAsnLeuArgMetSerValGluAlaAspIleAsnGlyLeuArgArgValLeuAspGluLeuThrLeuAlaArgAlaAspLeuGluMetGlnIleGluSerLeuLysGluGluLeuAlaTyrLeuLysLysAsnHisGluGluGluMetAsnAlaLeuArgGlyGlnValGlyGlyAspValAsnValGluMetAspAlaAlaProGlyValAspLeuSerArgIleLeuAsnGluMetArgAspGlnTyrGluLysMetAlaGluLysAsnArgLysAspAlaGluGluTrpPhePheThrLysThrGluGluLeuAsnArgGluValAlaThrAsnSerGluLeuValGlnSerGlyLysSerGluIleSerGluLeuArgArgThrMetGlnAsnLeuGluIleGluLeuGlnSerGlnLeuSerMetLysAlaSerLeuGluAsnSerLeuGluGluThrLysGlyArgTyrCysMetGlnLeuAlaGlnIleGlnGluMetIleGlySerValGluGluGlnLeuAlaGlnLeuArgCysGluMetGluGlnGlnAsnGlnGluTyrLysIleLeuLeuAspValLysThrArgLeuGluGlnGluIleAlaThrTyrArgArgLeuLeuGluGlyGluAspAlaHisLeuSerSerSerGlnPheSerSerGlySerGlnSerSerArgAspValThrSerSerSerArgGlnIleArgThrLysValMetAspValHisAspGlyLysValValSerThrHisGluGlnValLeuArgThrLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740062",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000167586.7:c.19C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000526.5:c.19C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000167586.6:p.Gln7Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000517.3:p.Gln7Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106,
          "referenceAllele": "C",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006416",
      "geneNCBI_id": 3861,
      "geneSymbol": "KRT14",
      "hgvs": [
        "ENST00000167586.6:c.19C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000167586.6:p.Gln7Ter",
        "hgvsWellDefined": "ENSP00000167586.6:p.Gln7_Asn472delinsPheThrSerSerSerSerMetLysGlySerCysGlyIleGlyGlyGlyIleGlyGlyGlySerSerArgIleSerSerValLeuAlaGlyGlySerCysArgAlaProSerThrTyrGlyGlyGlyLeuSerValSerSerSerArgPheSerSerGlyGlyAlaCysGlyLeuGlyGlyGlyTyrGlyGlyGlyPheSerSerSerSerSerSerPheGlySerGlyPheGlyGlyGlyTyrGlyGlyGlyLeuGlyAlaGlyLeuGlyGlyGlyPheGlyGlyGlyPheAlaGlyGlyAspGlyLeuLeuValGlySerGluLysValThrMetGlnAsnLeuAsnAspArgLeuAlaSerTyrLeuAspLysValArgAlaLeuGluGluAlaAsnAlaAspLeuGluValLysIleArgAspTrpTyrGlnArgGlnArgProAlaGluIleLysAspTyrSerProTyrPheLysThrIleGluAspLeuArgAsnLysIleLeuThrAlaThrValAspAsnAlaAsnValLeuLeuGlnIleAspAsnAlaArgLeuAlaAlaAspAspPheArgThrLysTyrGluThrGluLeuAsnLeuArgMetSerValGluAlaAspIleAsnGlyLeuArgArgValLeuAspGluLeuThrLeuAlaArgAlaAspLeuGluMetGlnIleGluSerLeuLysGluGluLeuAlaTyrLeuLysLysAsnHisGluGluGluMetAsnAlaLeuArgGlyGlnValGlyGlyAspValAsnValGluMetAspAlaAlaProGlyValAspLeuSerArgIleLeuAsnGluMetArgAspGlnTyrGluLysMetAlaGluLysAsnArgLysAspAlaGluGluTrpPhePheThrLysThrGluGluLeuAsnArgGluValAlaThrAsnSerGluLeuValGlnSerGlyLysSerGluIleSerGluLeuArgArgThrMetGlnAsnLeuGluIleGluLeuGlnSerGlnLeuSerMetLysAlaSerLeuGluAsnSerLeuGluGluThrLysGlyArgTyrCysMetGlnLeuAlaGlnIleGlnGluMetIleGlySerValGluGluGlnLeuAlaGlnLeuArgCysGluMetGluGlnGlnAsnGlnGluTyrLysIleLeuLeuAspValLysThrArgLeuGluGlnGluIleAlaThrTyrArgArgLeuLeuGluGlyGluAspAlaHisLeuSerSerSerGlnPheSerSerGlySerGlnSerSerArgAspValThrSerSerSerArgGlnIleArgThrLysValMetAspValHisAspGlyLysValValSerThrHisGluGlnValLeuArgThrLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA216886",
      "coordinates": [
        {
          "allele": "T",
          "end": 80,
          "referenceAllele": "C",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006416",
      "geneNCBI_id": 3861,
      "geneSymbol": "KRT14",
      "hgvs": [
        "NM_000526.4:c.19C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000517.2:p.Gln7Ter",
        "hgvsWellDefined": "NP_000517.2:p.Gln7_Asn472delinsPheThrSerSerSerSerMetLysGlySerCysGlyIleGlyGlyGlyIleGlyGlyGlySerSerArgIleSerSerValLeuAlaGlyGlySerCysArgAlaProSerThrTyrGlyGlyGlyLeuSerValSerSerSerArgPheSerSerGlyGlyAlaTyrGlyLeuGlyGlyGlyTyrGlyGlyGlyPheSerSerSerSerSerSerPheGlySerGlyPheGlyGlyGlyTyrGlyGlyGlyLeuGlyAlaGlyLeuGlyGlyGlyPheGlyGlyGlyPheAlaGlyGlyAspGlyLeuLeuValGlySerGluLysValThrMetGlnAsnLeuAsnAspArgLeuAlaSerTyrLeuAspLysValArgAlaLeuGluGluAlaAsnAlaAspLeuGluValLysIleArgAspTrpTyrGlnArgGlnArgProAlaGluIleLysAspTyrSerProTyrPheLysThrIleGluAspLeuArgAsnLysIleLeuThrAlaThrValAspAsnAlaAsnValLeuLeuGlnIleAspAsnAlaArgLeuAlaAlaAspAspPheArgThrLysTyrGluThrGluLeuAsnLeuArgMetSerValGluAlaAspIleAsnGlyLeuArgArgValLeuAspGluLeuThrLeuAlaArgAlaAspLeuGluMetGlnIleGluSerLeuLysGluGluLeuAlaTyrLeuLysLysAsnHisGluGluGluMetAsnAlaLeuArgGlyGlnValGlyGlyAspValAsnValGluMetAspAlaAlaProGlyValAspLeuSerArgIleLeuAsnGluMetArgAspGlnTyrGluLysMetAlaGluLysAsnArgLysAspAlaGluGluTrpPhePheThrLysThrGluGluLeuAsnArgGluValAlaThrAsnSerGluLeuValGlnSerGlyLysSerGluIleSerGluLeuArgArgThrMetGlnAsnLeuGluIleGluLeuGlnSerGlnLeuSerMetLysAlaSerLeuGluAsnSerLeuGluGluThrLysGlyArgTyrCysMetGlnLeuAlaGlnIleGlnGluMetIleGlySerValGluGluGlnLeuAlaGlnLeuArgCysGluMetGluGlnGlnAsnGlnGluTyrLysIleLeuLeuAspValLysThrArgLeuGluGlnGluIleAlaThrTyrArgArgLeuLeuGluGlyGluAspAlaHisLeuSerSerSerGlnPheSerSerGlySerGlnSerSerArgAspValThrSerSerSerArgGlnIleArgThrLysValMetAspValHisAspGlyLysValValSerThrHisGluGlnValLeuArgThrLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915958805",
      "coordinates": [
        {
          "allele": "T",
          "end": 80,
          "referenceAllele": "C",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006416",
      "geneNCBI_id": 3861,
      "geneSymbol": "KRT14",
      "hgvs": [
        "NM_000526.5:c.19C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000517.3:p.Gln7Ter",
        "hgvsWellDefined": "NP_000517.3:p.Gln7_Asn472delinsPheThrSerSerSerSerMetLysGlySerCysGlyIleGlyGlyGlyIleGlyGlyGlySerSerArgIleSerSerValLeuAlaGlyGlySerCysArgAlaProSerThrTyrGlyGlyGlyLeuSerValSerSerSerArgPheSerSerGlyGlyAlaCysGlyLeuGlyGlyGlyTyrGlyGlyGlyPheSerSerSerSerSerSerPheGlySerGlyPheGlyGlyGlyTyrGlyGlyGlyLeuGlyAlaGlyLeuGlyGlyGlyPheGlyGlyGlyPheAlaGlyGlyAspGlyLeuLeuValGlySerGluLysValThrMetGlnAsnLeuAsnAspArgLeuAlaSerTyrLeuAspLysValArgAlaLeuGluGluAlaAsnAlaAspLeuGluValLysIleArgAspTrpTyrGlnArgGlnArgProAlaGluIleLysAspTyrSerProTyrPheLysThrIleGluAspLeuArgAsnLysIleLeuThrAlaThrValAspAsnAlaAsnValLeuLeuGlnIleAspAsnAlaArgLeuAlaAlaAspAspPheArgThrLysTyrGluThrGluLeuAsnLeuArgMetSerValGluAlaAspIleAsnGlyLeuArgArgValLeuAspGluLeuThrLeuAlaArgAlaAspLeuGluMetGlnIleGluSerLeuLysGluGluLeuAlaTyrLeuLysLysAsnHisGluGluGluMetAsnAlaLeuArgGlyGlnValGlyGlyAspValAsnValGluMetAspAlaAlaProGlyValAspLeuSerArgIleLeuAsnGluMetArgAspGlnTyrGluLysMetAlaGluLysAsnArgLysAspAlaGluGluTrpPhePheThrLysThrGluGluLeuAsnArgGluValAlaThrAsnSerGluLeuValGlnSerGlyLysSerGluIleSerGluLeuArgArgThrMetGlnAsnLeuGluIleGluLeuGlnSerGlnLeuSerMetLysAlaSerLeuGluAsnSerLeuGluGluThrLysGlyArgTyrCysMetGlnLeuAlaGlnIleGlnGluMetIleGlySerValGluGluGlnLeuAlaGlnLeuArgCysGluMetGluGlnGlnAsnGlnGluTyrLysIleLeuLeuAspValLysThrArgLeuGluGlnGluIleAlaThrTyrArgArgLeuLeuGluGlyGluAspAlaHisLeuSerSerSerGlnPheSerSerGlySerGlnSerSerArgAspValThrSerSerSerArgGlnIleArgThrLysValMetAspValHisAspGlyLysValValSerThrHisGluGlnValLeuArgThrLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662472",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000167586.7:c.19C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000526.5:c.19C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000167586.6:p.Gln7Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000517.3:p.Gln7Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}