{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10602777",
  "communityStandardTitle": [
    "NM_006147.4(IRF6):c.265A>T (p.Lys89Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=264003[alleleid]",
        "alleleId": 264003,
        "preferredName": "NM_006147.4(IRF6):c.265A>T (p.Lys89Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/280244",
        "RCV": [
          "RCV000309598"
        ],
        "variationId": 280244
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.209969807T>A?assembly=hg19",
        "id": "chr1:g.209969807T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.209796462T>A?assembly=hg38",
        "id": "chr1:g.209796462T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886041484",
        "rs": 886041484
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 209796462,
          "referenceAllele": "T",
          "start": 209796461
        }
      ],
      "hgvs": [
        "NC_000001.11:g.209796462T>A",
        "CM000663.2:g.209796462T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 209969807,
          "referenceAllele": "T",
          "start": 209969806
        }
      ],
      "hgvs": [
        "NC_000001.10:g.209969807T>A",
        "CM000663.1:g.209969807T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 208036430,
          "referenceAllele": "T",
          "start": 208036429
        }
      ],
      "hgvs": [
        "NC_000001.9:g.208036430T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14673,
          "referenceAllele": "A",
          "start": 14672
        }
      ],
      "hgvs": [
        "NG_007081.2:g.14673A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000461"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
          "referenceAllele": "A",
          "start": 572
        }
      ],
      "hgvs": [
        "ENST00000696133.1:c.265A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512426.1:p.Lys89Ter",
        "hgvsWellDefined": "ENSP00000512426.1:p.Lys89_Ser486delinsSerArgGluPheAsnLeuMetTyrAspGlyThrLysGluValProMetAsnProValLysIleTyrGlnValCysAspIleProGlnProGlnGlySerIleIleAsnProGlySerThrGlySerAlaProTrpAspGluLysAspAsnAspValAspGluGluAspGluGluAspGluLeuAspGlnSerGlnHisHisValProIleGlnAspThrPheProPheLeuAsnIleAsnGlySerProMetAlaProAlaSerValGlyAsnCysSerValGlyAsnCysSerProGluAlaValTrpProLysThrGluProLeuGluMetGluValProGlnAlaProIleGlnProPheTyrSerSerProGluLeuTrpIleSerSerLeuProMetThrAspLeuAspIleLysPheGlnTyrArgGlyLysGluTyrGlyGlnThrMetThrValSerAsnProGlnGlyCysArgLeuPheTyrGlyAspLeuGlyProMetProAspGlnGluGluLeuPheGlyProValSerLeuGluGlnValLysPheProGlyProGluHisIleThrAsnGluLysGlnLysLeuPheThrSerLysLeuLeuAspValMetAspArgGlyLeuIleLeuGluValSerGlyHisAlaIleTyrAlaIleArgLeuCysGlnCysLysValTyrTrpSerGlyProCysAlaProSerLeuValAlaProAsnLeuIleGluArgGlnLysLysValLysLeuPheCysLeuGluThrPheLeuSerAspLeuIleAlaHisGlnLysGlyGlnIleGluLysGlnProProPheGluIleTyrLeuCysPheGlyGluGluTrpProAspGlyLysProLeuGluArgLysLeuIleLeuValGlnValIleProValValAlaArgMetIleTyrGluMetPheSerGlyAspPheThrArgSerPheAspSerGlySerValArgLeuGlnIleSerThrProAspIleLysAspAsnIleValAlaGlnLeuLysGlnLeuTyrArgIleLeuGlnThrGlnGluSerTrpGlnProMetGlnProThrProSerMetGlnLeuProProAlaLeuProProGlnProLeuLeuLysCysLeuAlaGluArgCysHisProGlyLysGlyThrArgAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "referenceAllele": "A",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000696134.1:c.265A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512427.1:p.Lys89Ter",
        "hgvsWellDefined": "ENSP00000512427.1:p.Lys89_Gly235delinsSerArgGluPheAsnLeuMetTyrAspGlyThrLysGluValProMetAsnProValLysIleTyrGlnValCysAspIleProGlnProGlnGlySerIleIleAsnProGlySerThrGlySerAlaProTrpAspGluLysAspAsnAspValAspGluGluAspGluGluAspGluLeuAspGlnSerGlnHisHisValProIleGlnAspThrPheProPheLeuAsnIleAsnGlySerProMetAlaProAlaSerValGlyAsnCysSerValGlyAsnCysSerProGluAlaValTrpProLysThrGluProLeuGluMetGluValProGlnAlaProIleGlnProPheTyrSerSerProGluLeuTrpIleSerSerLeuProArgArgIleThrMetAlaValAlaPheLeuAsnAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 536,
          "referenceAllele": "A",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000367021.8:c.265A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355988.3:p.Lys89Ter",
        "hgvsWellDefined": "ENSP00000355988.3:p.Lys89_Gln467delinsSerArgGluPheAsnLeuMetTyrAspGlyThrLysGluValProMetAsnProValLysIleTyrGlnValCysAspIleProGlnProGlnGlySerIleIleAsnProGlySerThrGlySerAlaProTrpAspGluLysAspAsnAspValAspGluGluAspGluGluAspGluLeuAspGlnSerGlnHisHisValProIleGlnAspThrPheProPheLeuAsnIleAsnGlySerProMetAlaProAlaSerValGlyAsnCysSerValGlyAsnCysSerProGluAlaValTrpProLysThrGluProLeuGluMetGluValProGlnAlaProIleGlnProPheTyrSerSerProGluLeuTrpIleSerSerLeuProMetThrAspLeuAspIleLysPheGlnTyrArgGlyLysGluTyrGlyGlnThrMetThrValSerAsnProGlnGlyCysArgLeuPheTyrGlyAspLeuGlyProMetProAspGlnGluGluLeuPheGlyProValSerLeuGluGlnValLysPheProGlyProGluHisIleThrAsnGluLysGlnLysLeuPheThrSerLysLeuLeuAspValMetAspArgGlyLeuIleLeuGluValSerGlyHisAlaIleTyrAlaIleArgLeuCysGlnCysLysValTyrTrpSerGlyProCysAlaProSerLeuValAlaProAsnLeuIleGluArgGlnLysLysValLysLeuPheCysLeuGluThrPheLeuSerAspLeuIleAlaHisGlnLysGlyGlnIleGluLysGlnProProPheGluIleTyrLeuCysPheGlyGluGluTrpProAspGlyLysProLeuGluArgLysLeuIleLeuValGlnValIleProValValAlaArgMetIleTyrGluMetPheSerGlyAspPheThrArgSerPheAspSerGlySerValArgLeuGlnIleSerThrProAspIleLysAspAsnIleValAlaGlnLeuLysGlnLeuTyrArgIleLeuGlnThrGlnGluSerTrpGlnProMetGlnProThrProSerMetGlnLeuProProAlaLeuProProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749907",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367021.8:c.265A>T"
          },
          "RefSeq": {
            "hgvs": "NM_006147.4:c.265A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355988.3:p.Lys89Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006138.1:p.Lys89Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 338,
          "referenceAllele": "A",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000643798.1:c.265A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496669.1:p.Lys89Ter",
        "hgvsWellDefined": "ENSP00000496669.1:p.Lys89_Cys179delinsSerArgGluPheAsnLeuMetTyrAspGlyThrLysGluValProMetAsnProValLysIleTyrGlnValCysAspIleProGlnProGlnGlySerIleIleAsnProGlySerThrGlySerAlaProTrpAspGluLysAspAsnAspValAspGluGluAspGluGluAspGluLeuAspGlnSerGlnHisHisValProIleGlnAspThrPheProPheLeuAsnIleAsnGluLeuLeuGlyGlnArgMetLysAsnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "referenceAllele": "A",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000367021.7:c.265A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355988.3:p.Lys89Ter",
        "hgvsWellDefined": "ENSP00000355988.3:p.Lys89_Gln467delinsSerArgGluPheAsnLeuMetTyrAspGlyThrLysGluValProMetAsnProValLysIleTyrGlnValCysAspIleProGlnProGlnGlySerIleIleAsnProGlySerThrGlySerAlaProTrpAspGluLysAspAsnAspValAspGluGluAspGluGluAspGluLeuAspGlnSerGlnHisHisValProIleGlnAspThrPheProPheLeuAsnIleAsnGlySerProMetAlaProAlaSerValGlyAsnCysSerValGlyAsnCysSerProGluAlaValTrpProLysThrGluProLeuGluMetGluValProGlnAlaProIleGlnProPheTyrSerSerProGluLeuTrpIleSerSerLeuProMetThrAspLeuAspIleLysPheGlnTyrArgGlyLysGluTyrGlyGlnThrMetThrValSerAsnProGlnGlyCysArgLeuPheTyrGlyAspLeuGlyProMetProAspGlnGluGluLeuPheGlyProValSerLeuGluGlnValLysPheProGlyProGluHisIleThrAsnGluLysGlnLysLeuPheThrSerLysLeuLeuAspValMetAspArgGlyLeuIleLeuGluValSerGlyHisAlaIleTyrAlaIleArgLeuCysGlnCysLysValTyrTrpSerGlyProCysAlaProSerLeuValAlaProAsnLeuIleGluArgGlnLysLysValLysLeuPheCysLeuGluThrPheLeuSerAspLeuIleAlaHisGlnLysGlyGlnIleGluLysGlnProProPheGluIleTyrLeuCysPheGlyGluGluTrpProAspGlyLysProLeuGluArgLysLeuIleLeuValGlnValIleProValValAlaArgMetIleTyrGluMetPheSerGlyAspPheThrArgSerPheAspSerGlySerValArgLeuGlnIleSerThrProAspIleLysAspAsnIleValAlaGlnLeuLysGlnLeuTyrArgIleLeuGlnThrGlnGluSerTrpGlnProMetGlnProThrProSerMetGlnLeuProProAlaLeuProProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "A",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000456314.1:c.265A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403855.1:p.Lys89Ter",
        "hgvsWellDefined": "ENSP00000403855.1:p.Lys89Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 320,
          "referenceAllele": "A",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000542854.5:c.-21A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440532.1:n.-21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 320,
          "referenceAllele": "A",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NM_001206696.1:c.-21A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193625.1:n.-21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017832"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645397473",
      "coordinates": [
        {
          "allele": "T",
          "end": 569,
          "referenceAllele": "A",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NM_006147.3:c.265A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006138.1:p.Lys89Ter",
        "hgvsWellDefined": "NP_006138.1:p.Lys89_Gln467delinsSerArgGluPheAsnLeuMetTyrAspGlyThrLysGluValProMetAsnProValLysIleTyrGlnValCysAspIleProGlnProGlnGlySerIleIleAsnProGlySerThrGlySerAlaProTrpAspGluLysAspAsnAspValAspGluGluAspGluGluAspGluLeuAspGlnSerGlnHisHisValProIleGlnAspThrPheProPheLeuAsnIleAsnGlySerProMetAlaProAlaSerValGlyAsnCysSerValGlyAsnCysSerProGluAlaValTrpProLysThrGluProLeuGluMetGluValProGlnAlaProIleGlnProPheTyrSerSerProGluLeuTrpIleSerSerLeuProMetThrAspLeuAspIleLysPheGlnTyrArgGlyLysGluTyrGlyGlnThrMetThrValSerAsnProGlnGlyCysArgLeuPheTyrGlyAspLeuGlyProMetProAspGlnGluGluLeuPheGlyProValSerLeuGluGlnValLysPheProGlyProGluHisIleThrAsnGluLysGlnLysLeuPheThrSerLysLeuLeuAspValMetAspArgGlyLeuIleLeuGluValSerGlyHisAlaIleTyrAlaIleArgLeuCysGlnCysLysValTyrTrpSerGlyProCysAlaProSerLeuValAlaProAsnLeuIleGluArgGlnLysLysValLysLeuPheCysLeuGluThrPheLeuSerAspLeuIleAlaHisGlnLysGlyGlnIleGluLysGlnProProPheGluIleTyrLeuCysPheGlyGluGluTrpProAspGlyLysProLeuGluArgLysLeuIleLeuValGlnValIleProValValAlaArgMetIleTyrGluMetPheSerGlyAspPheThrArgSerPheAspSerGlySerValArgLeuGlnIleSerThrProAspIleLysAspAsnIleValAlaGlnLeuLysGlnLeuTyrArgIleLeuGlnThrGlnGluSerTrpGlnProMetGlnProThrProSerMetGlnLeuProProAlaLeuProProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645397473",
      "coordinates": [
        {
          "allele": "T",
          "end": 536,
          "referenceAllele": "A",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NM_006147.4:c.265A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006138.1:p.Lys89Ter",
        "hgvsWellDefined": "NP_006138.1:p.Lys89_Gln467delinsSerArgGluPheAsnLeuMetTyrAspGlyThrLysGluValProMetAsnProValLysIleTyrGlnValCysAspIleProGlnProGlnGlySerIleIleAsnProGlySerThrGlySerAlaProTrpAspGluLysAspAsnAspValAspGluGluAspGluGluAspGluLeuAspGlnSerGlnHisHisValProIleGlnAspThrPheProPheLeuAsnIleAsnGlySerProMetAlaProAlaSerValGlyAsnCysSerValGlyAsnCysSerProGluAlaValTrpProLysThrGluProLeuGluMetGluValProGlnAlaProIleGlnProPheTyrSerSerProGluLeuTrpIleSerSerLeuProMetThrAspLeuAspIleLysPheGlnTyrArgGlyLysGluTyrGlyGlnThrMetThrValSerAsnProGlnGlyCysArgLeuPheTyrGlyAspLeuGlyProMetProAspGlnGluGluLeuPheGlyProValSerLeuGluGlnValLysPheProGlyProGluHisIleThrAsnGluLysGlnLysLeuPheThrSerLysLeuLeuAspValMetAspArgGlyLeuIleLeuGluValSerGlyHisAlaIleTyrAlaIleArgLeuCysGlnCysLysValTyrTrpSerGlyProCysAlaProSerLeuValAlaProAsnLeuIleGluArgGlnLysLysValLysLeuPheCysLeuGluThrPheLeuSerAspLeuIleAlaHisGlnLysGlyGlnIleGluLysGlnProProPheGluIleTyrLeuCysPheGlyGluGluTrpProAspGlyLysProLeuGluArgLysLeuIleLeuValGlnValIleProValValAlaArgMetIleTyrGluMetPheSerGlyAspPheThrArgSerPheAspSerGlySerValArgLeuGlnIleSerThrProAspIleLysAspAsnIleValAlaGlnLeuLysGlnLeuTyrArgIleLeuGlnThrGlnGluSerTrpGlnProMetGlnProThrProSerMetGlnLeuProProAlaLeuProProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667315",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367021.8:c.265A>T"
          },
          "RefSeq": {
            "hgvs": "NM_006147.4:c.265A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355988.3:p.Lys89Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006138.1:p.Lys89Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 287,
          "referenceAllele": "A",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NM_001206696.2:c.-21A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193625.1:n.-21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714222"
    }
  ],
  "type": "nucleotide"
}