{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA319679",
  "communityStandardTitle": [
    "NM_145020.5(CFAP53):c.121C>T (p.Arg41Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4461792"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205070[alleleid]",
        "alleleId": 205070,
        "preferredName": "NM_145020.5(CFAP53):c.121C>T (p.Arg41Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208550",
        "RCV": [
          "RCV000190555"
        ],
        "variationId": 208550
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/18-47788538-G-A",
        "id": "18-47788538-G-A",
        "variant": "18:47788538 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.47788538G>A?assembly=hg19",
        "id": "chr18:g.47788538G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.50262168G>A?assembly=hg38",
        "id": "chr18:g.50262168G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375801610",
        "rs": 375801610
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-47788538-G-A?dataset=gnomad_r2_1",
        "id": "18-47788538-G-A",
        "variant": "18:47788538 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-50262168-G-A?dataset=gnomad_r3",
        "id": "18-50262168-G-A",
        "variant": "18:50262168 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-50262168-G-A?dataset=gnomad_r4",
        "id": "18-50262168-G-A",
        "variant": "18:50262168 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 50262168,
          "referenceAllele": "G",
          "start": 50262167
        }
      ],
      "hgvs": [
        "NC_000018.10:g.50262168G>A",
        "CM000680.2:g.50262168G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 47788538,
          "referenceAllele": "G",
          "start": 47788537
        }
      ],
      "hgvs": [
        "NC_000018.9:g.47788538G>A",
        "CM000680.1:g.47788538G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 46042536,
          "referenceAllele": "G",
          "start": 46042535
        }
      ],
      "hgvs": [
        "NC_000018.8:g.46042536G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9355,
          "referenceAllele": "C",
          "start": 9354
        }
      ],
      "hgvs": [
        "NG_042815.1:g.9355C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006017"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 212,
          "referenceAllele": "C",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026530",
      "geneNCBI_id": 220136,
      "geneSymbol": "CFAP53",
      "hgvs": [
        "ENST00000398545.5:c.121C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381553.3:p.Arg41Ter",
        "hgvsWellDefined": "ENSP00000381553.3:p.Arg42_Pro514delinsSerHisGlnLysHisAsnAlaIleLeuAlaSerIleLysSerSerGluArgAspArgLeuLysAlaGluTrpAspGlnHisAsnAspCysLysIleLeuAspSerLeuValArgAlaArgIleLysAspAlaValGlnGlyPheIleIleAsnIleGluGluArgArgAsnLysLeuArgGluLeuLeuAlaLeuGluGluAsnGluTyrPheThrGluMetGlnLeuLysLysGluThrIleGluGluLysLysAspArgMetArgGluLysThrLysLeuLeuLysGluLysAsnGluLysGluArgGlnAspPheValAlaGluLysLeuAspGlnGlnPheArgGluArgCysGluGluLeuArgValGluLeuLeuSerIleHisGlnLysLysValCysGluGluArgLysAlaGlnIleAlaPheAsnGluGluLeuSerArgGlnLysLeuValGluGluGlnMetPheSerLysLeuTrpGluGluAspArgLeuAlaLysGluLysArgGluAlaGlnGluAlaArgArgGlnLysGluLeuMetGluAsnThrArgLeuGlyLeuAsnAlaGlnIleThrSerIleLysAlaGlnArgGlnAlaThrGlnLeuLeuLysGluGluGluAlaArgLeuValGluSerAsnAsnAlaGlnIleLysHisGluAsnGluGlnAspMetLeuLysLysGlnLysAlaLysGlnGluThrArgThrIleLeuGlnLysAlaLeuGlnGluArgIleGluHisIleGlnGlnGluTyrArgAspGluGlnAspLeuAsnMetLysLeuValGlnArgAlaLeuGlnAspLeuGlnGluGluAlaAspLysLysLysGlnLysArgGluAspMetIleArgGluGlnLysIleTyrHisLysTyrLeuAlaGlnArgArgGluGluGluLysAlaGlnGluLysGluPheAspArgIleLeuGluGluAspLysAlaLysLysLeuAlaGluLysAspLysGluLeuArgLeuGluLysGluAlaArgArgGlnLeuValAspGluValMetCysThrArgLysLeuGlnValGlnGluLysLeuGlnArgGluAlaLysGluGlnGluGluArgAlaMetGluGlnLysHisIleAsnGluSerLeuLysGluLeuAsnCysGluGluLysGluAsnPheAlaArgArgGlnArgLeuAlaGlnGluTyrArgLysGlnLeuGlnMetGlnIleAlaTyrGlnGlnGlnSerGlnGluAlaGluLysGluGluLysArgArgGluPheGluAlaGlyValAlaAlaAsnLysMetCysLeuAspLysValGlnGluValLeuSerThrHisGlnValLeuProGlnAsnIleHisProMetArgLysAlaCysProSerLysLeuProProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753758",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398545.5:c.121C>T"
          },
          "RefSeq": {
            "hgvs": "NM_145020.5:c.121C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381553.3:p.Arg41Ter"
          },
          "RefSeq": {
            "hgvs": "NP_659457.2:p.Arg41Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 239,
          "referenceAllele": "C",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026530",
      "geneNCBI_id": 220136,
      "geneSymbol": "CFAP53",
      "hgvs": [
        "ENST00000398545.4:c.121C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381553.3:p.Arg41Ter",
        "hgvsWellDefined": "ENSP00000381553.3:p.Arg42_Pro514delinsSerHisGlnLysHisAsnAlaIleLeuAlaSerIleLysSerSerGluArgAspArgLeuLysAlaGluTrpAspGlnHisAsnAspCysLysIleLeuAspSerLeuValArgAlaArgIleLysAspAlaValGlnGlyPheIleIleAsnIleGluGluArgArgAsnLysLeuArgGluLeuLeuAlaLeuGluGluAsnGluTyrPheThrGluMetGlnLeuLysLysGluThrIleGluGluLysLysAspArgMetArgGluLysThrLysLeuLeuLysGluLysAsnGluLysGluArgGlnAspPheValAlaGluLysLeuAspGlnGlnPheArgGluArgCysGluGluLeuArgValGluLeuLeuSerIleHisGlnLysLysValCysGluGluArgLysAlaGlnIleAlaPheAsnGluGluLeuSerArgGlnLysLeuValGluGluGlnMetPheSerLysLeuTrpGluGluAspArgLeuAlaLysGluLysArgGluAlaGlnGluAlaArgArgGlnLysGluLeuMetGluAsnThrArgLeuGlyLeuAsnAlaGlnIleThrSerIleLysAlaGlnArgGlnAlaThrGlnLeuLeuLysGluGluGluAlaArgLeuValGluSerAsnAsnAlaGlnIleLysHisGluAsnGluGlnAspMetLeuLysLysGlnLysAlaLysGlnGluThrArgThrIleLeuGlnLysAlaLeuGlnGluArgIleGluHisIleGlnGlnGluTyrArgAspGluGlnAspLeuAsnMetLysLeuValGlnArgAlaLeuGlnAspLeuGlnGluGluAlaAspLysLysLysGlnLysArgGluAspMetIleArgGluGlnLysIleTyrHisLysTyrLeuAlaGlnArgArgGluGluGluLysAlaGlnGluLysGluPheAspArgIleLeuGluGluAspLysAlaLysLysLeuAlaGluLysAspLysGluLeuArgLeuGluLysGluAlaArgArgGlnLeuValAspGluValMetCysThrArgLysLeuGlnValGlnGluLysLeuGlnArgGluAlaLysGluGlnGluGluArgAlaMetGluGlnLysHisIleAsnGluSerLeuLysGluLeuAsnCysGluGluLysGluAsnPheAlaArgArgGlnArgLeuAlaGlnGluTyrArgLysGlnLeuGlnMetGlnIleAlaTyrGlnGlnGlnSerGlnGluAlaGluLysGluGluLysArgArgGluPheGluAlaGlyValAlaAlaAsnLysMetCysLeuAspLysValGlnGluValLeuSerThrHisGlnValLeuProGlnAsnIleHisProMetArgLysAlaCysProSerLysLeuProProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278320"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319680",
      "coordinates": [
        {
          "allele": "T",
          "end": 212,
          "referenceAllele": "C",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026530",
      "geneNCBI_id": 220136,
      "geneSymbol": "CFAP53",
      "hgvs": [
        "NM_145020.3:c.121C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_659457.2:p.Arg41Ter",
        "hgvsWellDefined": "NP_659457.2:p.Arg42_Pro514delinsSerHisGlnLysHisAsnAlaIleLeuAlaSerIleLysSerSerGluArgAspArgLeuLysAlaGluTrpAspGlnHisAsnAspCysLysIleLeuAspSerLeuValArgAlaArgIleLysAspAlaValGlnGlyPheIleIleAsnIleGluGluArgArgAsnLysLeuArgGluLeuLeuAlaLeuGluGluAsnGluTyrPheThrGluMetGlnLeuLysLysGluThrIleGluGluLysLysAspArgMetArgGluLysThrLysLeuLeuLysGluLysAsnGluLysGluArgGlnAspPheValAlaGluLysLeuAspGlnGlnPheArgGluArgCysGluGluLeuArgValGluLeuLeuSerIleHisGlnLysLysValCysGluGluArgLysAlaGlnIleAlaPheAsnGluGluLeuSerArgGlnLysLeuValGluGluGlnMetPheSerLysLeuTrpGluGluAspArgLeuAlaLysGluLysArgGluAlaGlnGluAlaArgArgGlnLysGluLeuMetGluAsnThrArgLeuGlyLeuAsnAlaGlnIleThrSerIleLysAlaGlnArgGlnAlaThrGlnLeuLeuLysGluGluGluAlaArgLeuValGluSerAsnAsnAlaGlnIleLysHisGluAsnGluGlnAspMetLeuLysLysGlnLysAlaLysGlnGluThrArgThrIleLeuGlnLysAlaLeuGlnGluArgIleGluHisIleGlnGlnGluTyrArgAspGluGlnAspLeuAsnMetLysLeuValGlnArgAlaLeuGlnAspLeuGlnGluGluAlaAspLysLysLysGlnLysArgGluAspMetIleArgGluGlnLysIleTyrHisLysTyrLeuAlaGlnArgArgGluGluGluLysAlaGlnGluLysGluPheAspArgIleLeuGluGluAspLysAlaLysLysLeuAlaGluLysAspLysGluLeuArgLeuGluLysGluAlaArgArgGlnLeuValAspGluValMetCysThrArgLysLeuGlnValGlnGluLysLeuGlnArgGluAlaLysGluGlnGluGluArgAlaMetGluGlnLysHisIleAsnGluSerLeuLysGluLeuAsnCysGluGluLysGluAsnPheAlaArgArgGlnArgLeuAlaGlnGluTyrArgLysGlnLeuGlnMetGlnIleAlaTyrGlnGlnGlnSerGlnGluAlaGluLysGluGluLysArgArgGluPheGluAlaGlyValAlaAlaAsnLysMetCysLeuAspLysValGlnGluValLeuSerThrHisGlnValLeuProGlnAsnIleHisProMetArgLysAlaCysProSerLysLeuProProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247063"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319680",
      "coordinates": [
        {
          "allele": "T",
          "end": 239,
          "referenceAllele": "C",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026530",
      "geneNCBI_id": 220136,
      "geneSymbol": "CFAP53",
      "hgvs": [
        "NM_145020.4:c.121C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_659457.2:p.Arg41Ter",
        "hgvsWellDefined": "NP_659457.2:p.Arg42_Pro514delinsSerHisGlnLysHisAsnAlaIleLeuAlaSerIleLysSerSerGluArgAspArgLeuLysAlaGluTrpAspGlnHisAsnAspCysLysIleLeuAspSerLeuValArgAlaArgIleLysAspAlaValGlnGlyPheIleIleAsnIleGluGluArgArgAsnLysLeuArgGluLeuLeuAlaLeuGluGluAsnGluTyrPheThrGluMetGlnLeuLysLysGluThrIleGluGluLysLysAspArgMetArgGluLysThrLysLeuLeuLysGluLysAsnGluLysGluArgGlnAspPheValAlaGluLysLeuAspGlnGlnPheArgGluArgCysGluGluLeuArgValGluLeuLeuSerIleHisGlnLysLysValCysGluGluArgLysAlaGlnIleAlaPheAsnGluGluLeuSerArgGlnLysLeuValGluGluGlnMetPheSerLysLeuTrpGluGluAspArgLeuAlaLysGluLysArgGluAlaGlnGluAlaArgArgGlnLysGluLeuMetGluAsnThrArgLeuGlyLeuAsnAlaGlnIleThrSerIleLysAlaGlnArgGlnAlaThrGlnLeuLeuLysGluGluGluAlaArgLeuValGluSerAsnAsnAlaGlnIleLysHisGluAsnGluGlnAspMetLeuLysLysGlnLysAlaLysGlnGluThrArgThrIleLeuGlnLysAlaLeuGlnGluArgIleGluHisIleGlnGlnGluTyrArgAspGluGlnAspLeuAsnMetLysLeuValGlnArgAlaLeuGlnAspLeuGlnGluGluAlaAspLysLysLysGlnLysArgGluAspMetIleArgGluGlnLysIleTyrHisLysTyrLeuAlaGlnArgArgGluGluGluLysAlaGlnGluLysGluPheAspArgIleLeuGluGluAspLysAlaLysLysLeuAlaGluLysAspLysGluLeuArgLeuGluLysGluAlaArgArgGlnLeuValAspGluValMetCysThrArgLysLeuGlnValGlnGluLysLeuGlnArgGluAlaLysGluGlnGluGluArgAlaMetGluGlnLysHisIleAsnGluSerLeuLysGluLeuAsnCysGluGluLysGluAsnPheAlaArgArgGlnArgLeuAlaGlnGluTyrArgLysGlnLeuGlnMetGlnIleAlaTyrGlnGlnGlnSerGlnGluAlaGluLysGluGluLysArgArgGluPheGluAlaGlyValAlaAlaAsnLysMetCysLeuAspLysValGlnGluValLeuSerThrHisGlnValLeuProGlnAsnIleHisProMetArgLysAlaCysProSerLysLeuProProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041310"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319680",
      "coordinates": [
        {
          "allele": "T",
          "end": 212,
          "referenceAllele": "C",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026530",
      "geneNCBI_id": 220136,
      "geneSymbol": "CFAP53",
      "hgvs": [
        "NM_145020.5:c.121C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_659457.2:p.Arg41Ter",
        "hgvsWellDefined": "NP_659457.2:p.Arg42_Pro514delinsSerHisGlnLysHisAsnAlaIleLeuAlaSerIleLysSerSerGluArgAspArgLeuLysAlaGluTrpAspGlnHisAsnAspCysLysIleLeuAspSerLeuValArgAlaArgIleLysAspAlaValGlnGlyPheIleIleAsnIleGluGluArgArgAsnLysLeuArgGluLeuLeuAlaLeuGluGluAsnGluTyrPheThrGluMetGlnLeuLysLysGluThrIleGluGluLysLysAspArgMetArgGluLysThrLysLeuLeuLysGluLysAsnGluLysGluArgGlnAspPheValAlaGluLysLeuAspGlnGlnPheArgGluArgCysGluGluLeuArgValGluLeuLeuSerIleHisGlnLysLysValCysGluGluArgLysAlaGlnIleAlaPheAsnGluGluLeuSerArgGlnLysLeuValGluGluGlnMetPheSerLysLeuTrpGluGluAspArgLeuAlaLysGluLysArgGluAlaGlnGluAlaArgArgGlnLysGluLeuMetGluAsnThrArgLeuGlyLeuAsnAlaGlnIleThrSerIleLysAlaGlnArgGlnAlaThrGlnLeuLeuLysGluGluGluAlaArgLeuValGluSerAsnAsnAlaGlnIleLysHisGluAsnGluGlnAspMetLeuLysLysGlnLysAlaLysGlnGluThrArgThrIleLeuGlnLysAlaLeuGlnGluArgIleGluHisIleGlnGlnGluTyrArgAspGluGlnAspLeuAsnMetLysLeuValGlnArgAlaLeuGlnAspLeuGlnGluGluAlaAspLysLysLysGlnLysArgGluAspMetIleArgGluGlnLysIleTyrHisLysTyrLeuAlaGlnArgArgGluGluGluLysAlaGlnGluLysGluPheAspArgIleLeuGluGluAspLysAlaLysLysLeuAlaGluLysAspLysGluLeuArgLeuGluLysGluAlaArgArgGlnLeuValAspGluValMetCysThrArgLysLeuGlnValGlnGluLysLeuGlnArgGluAlaLysGluGlnGluGluArgAlaMetGluGlnLysHisIleAsnGluSerLeuLysGluLeuAsnCysGluGluLysGluAsnPheAlaArgArgGlnArgLeuAlaGlnGluTyrArgLysGlnLeuGlnMetGlnIleAlaTyrGlnGlnGlnSerGlnGluAlaGluLysGluGluLysArgArgGluPheGluAlaGlyValAlaAlaAsnLysMetCysLeuAspLysValGlnGluValLeuSerThrHisGlnValLeuProGlnAsnIleHisProMetArgLysAlaCysProSerLysLeuProProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398545.5:c.121C>T"
          },
          "RefSeq": {
            "hgvs": "NM_145020.5:c.121C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381553.3:p.Arg41Ter"
          },
          "RefSeq": {
            "hgvs": "NP_659457.2:p.Arg41Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}