{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414907257",
  "communityStandardTitle": [
    "NM_000132.4(F8):c.6525T>A (p.Tyr2175Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154091407A>T?assembly=hg19",
        "id": "chrX:g.154091407A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154863132A>T?assembly=hg38",
        "id": "chrX:g.154863132A>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 154863132,
          "referenceAllele": "A",
          "start": 154863131
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154863132A>T",
        "CM000685.2:g.154863132A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 154091407,
          "referenceAllele": "A",
          "start": 154091406
        }
      ],
      "hgvs": [
        "NC_000023.10:g.154091407A>T",
        "CM000685.1:g.154091407A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153744601,
          "referenceAllele": "A",
          "start": 153744600
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153744601A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 164592,
          "referenceAllele": "T",
          "start": 164591
        }
      ],
      "hgvs": [
        "NG_011403.1:g.164592T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 164592,
          "referenceAllele": "T",
          "start": 164591
        }
      ],
      "hgvs": [
        "NG_011403.2:g.164592T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6696,
          "referenceAllele": "T",
          "start": 6695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.9:c.6525T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Tyr2175Ter",
        "hgvsWellDefined": "ENSP00000353393.4:p.Tyr2175_Tyr2351delinsSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.6525T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.6525T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Tyr2175Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Tyr2175Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1383,
          "referenceAllele": "T",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000644698.1:c.258T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495706.1:p.Tyr86Ter",
        "hgvsWellDefined": "ENSP00000495706.1:p.Tyr86_Tyr262delinsSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 280,
          "referenceAllele": "T",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000330287.10:c.120T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327895.6:p.Tyr40Ter",
        "hgvsWellDefined": "ENSP00000327895.6:p.Tyr40_Tyr216delinsSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259212"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6726,
          "referenceAllele": "T",
          "start": 6725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.8:c.6525T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Tyr2175Ter",
        "hgvsWellDefined": "ENSP00000353393.4:p.Tyr2175_Tyr2351delinsSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265065"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6696,
          "referenceAllele": "T",
          "start": 6695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.3:c.6525T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Tyr2175Ter",
        "hgvsWellDefined": "NP_000123.1:p.Tyr2175_Tyr2351delinsSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 265,
          "referenceAllele": "T",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_019863.2:c.120T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_063916.1:p.Tyr40Ter",
        "hgvsWellDefined": "NP_063916.1:p.Tyr40_Tyr216delinsSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036160"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6537,
          "referenceAllele": "T",
          "start": 6536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "XM_011531126.1:c.6420T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529428.1:p.Tyr2140Ter",
        "hgvsWellDefined": "XP_011529428.1:p.Tyr2140_Tyr2316delinsSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6696,
          "referenceAllele": "T",
          "start": 6695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.4:c.6525T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Tyr2175Ter",
        "hgvsWellDefined": "NP_000123.1:p.Tyr2175_Tyr2351delinsSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.6525T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.6525T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Tyr2175Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Tyr2175Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 280,
          "referenceAllele": "T",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_019863.3:c.120T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_063916.1:p.Tyr40Ter",
        "hgvsWellDefined": "NP_063916.1:p.Tyr40_Tyr216delinsSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728406"
    }
  ],
  "type": "nucleotide"
}