{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA277339",
  "communityStandardTitle": [
    "NM_014009.4(FOXP3):c.727del (p.Glu243SerfsTer11)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=209083[alleleid]",
        "alleleId": 209083,
        "preferredName": "NM_014009.4(FOXP3):c.727del (p.Glu243fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/211046",
        "RCV": [
          "RCV000194536"
        ],
        "variationId": 211046
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49112184del?assembly=hg19",
        "id": "chrX:g.49112184del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49255723del?assembly=hg38",
        "id": "chrX:g.49255723del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797045588",
        "rs": 797045588
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 49255724,
          "referenceAllele": "C",
          "start": 49255723
        }
      ],
      "hgvs": [
        "NC_000023.11:g.49255724del",
        "CM000685.2:g.49255724del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 49112185,
          "referenceAllele": "C",
          "start": 49112184
        }
      ],
      "hgvs": [
        "NC_000023.10:g.49112185del",
        "CM000685.1:g.49112185del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 48999129,
          "referenceAllele": "C",
          "start": 48999128
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48999129del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 14105,
          "referenceAllele": "G",
          "start": 14104
        }
      ],
      "hgvs": [
        "NG_007392.1:g.14105del",
        "LRG_62:g.14105del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000561"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 784,
          "referenceAllele": "G",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000376199.7:c.622del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365372.2:p.Glu208SerfsTer11",
        "hgvsWellDefined": "ENSP00000365372.2:p.[Glu208_Leu218delinsSerSer;Ala220_Ala234delinsTrpCysTrpArgArgArg;Ser236_Val237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751726"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000376207.10:c.727del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365380.4:p.Glu243SerfsTer11",
        "hgvsWellDefined": "ENSP00000365380.4:p.[Glu243_Leu253delinsSerSer;Ala255_Ala269delinsTrpCysTrpArgArgArg;Ser271_Val272del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376207.10:c.727del"
          },
          "RefSeq": {
            "hgvs": "NM_014009.4:c.727del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365380.4:p.Glu243SerfsTer11"
          },
          "RefSeq": {
            "hgvs": "NP_054728.2:p.Glu243SerfsTer11"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 826,
          "referenceAllele": "G",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000455775.7:c.796del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396415.3:p.Glu266SerfsTer11",
        "hgvsWellDefined": "ENSP00000396415.3:p.[Glu266_Leu276delinsSerSer;Ala278_Ala292delinsTrpCysTrpArgArgArg;Ser294_Val295del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756528"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 727,
          "referenceAllele": "G",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000518685.6:c.727del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428952.2:p.Glu243SerfsTer14",
        "hgvsWellDefined": "ENSP00000428952.2:p.[Glu243_Ala246del;Asp249_Val256delinsArgHisHisProThrArg;Ala258_Gly262del;Val264_Pro266delinsAla;Trp268del;Gly270_Arg272del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758617"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000557224.6:c.622del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451208.1:p.Glu208SerfsTer11",
        "hgvsWellDefined": "ENSP00000451208.1:p.[Glu208_Leu218delinsSerSer;Ala220_Ala234delinsTrpCysTrpArgArgArg;Ser236_Val237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760192"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000651307.1:c.727del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498454.1:p.Glu243SerfsTer11",
        "hgvsWellDefined": "ENSP00000498454.1:p.[Glu243_Leu253delinsSerSer;Ala255_Ala269delinsTrpCysTrpArgArgArg;Ser271_Val272del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771589"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 577,
          "referenceAllele": "G",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000376197.1:c.577del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365369.1:p.Glu193SerfsTer11",
        "hgvsWellDefined": "ENSP00000365369.1:p.[Glu193_Leu203delinsSerSer;Ala205_Ala219delinsTrpCysTrpArgArgArg;Ser221_Val222del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271054"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000376199.6:c.622del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365372.2:p.Glu208SerfsTer11",
        "hgvsWellDefined": "ENSP00000365372.2:p.[Glu208_Leu218delinsSerSer;Ala220_Ala234delinsTrpCysTrpArgArgArg;Ser236_Val237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271055"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 915,
          "referenceAllele": "G",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000376207.8:c.727del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365380.4:p.Glu243SerfsTer11",
        "hgvsWellDefined": "ENSP00000365380.4:p.[Glu243_Leu253delinsSerSer;Ala255_Ala269delinsTrpCysTrpArgArgArg;Ser271_Val272del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271057"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 984,
          "referenceAllele": "G",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000455775.6:c.796del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396415.3:p.Glu266SerfsTer11",
        "hgvsWellDefined": "ENSP00000396415.3:p.[Glu266_Leu276delinsSerSer;Ala278_Ala292delinsTrpCysTrpArgArgArg;Ser294_Val295del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303198"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000518685.5:c.622del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428952.1:p.Glu208SerfsTer11",
        "hgvsWellDefined": "ENSP00000428952.1:p.[Glu208_Leu218delinsSerSer;Ala220_Ala234delinsTrpCysTrpArgArgArg;Ser236_Val237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346082"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 622,
          "referenceAllele": "G",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000557224.5:c.622del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451208.1:p.Glu208SerfsTer11",
        "hgvsWellDefined": "ENSP00000451208.1:p.[Glu208_Leu218delinsSerSer;Ala220_Ala234delinsTrpCysTrpArgArgArg;Ser236_Val237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372848"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "NM_001114377.1:c.622del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107849.1:p.Glu208SerfsTer11",
        "hgvsWellDefined": "NP_001107849.1:p.[Glu208_Leu218delinsSerSer;Ala220_Ala234delinsTrpCysTrpArgArgArg;Ser236_Val237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011319"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 915,
          "referenceAllele": "G",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "NM_014009.3:c.727del",
        "LRG_62t1:c.727del"
      ],
      "proteinEffect": {
        "hgvs": "NP_054728.2:p.Glu243SerfsTer11",
        "hgvsWellDefined": "NP_054728.2:p.[Glu243_Leu253delinsSerSer;Ala255_Ala269delinsTrpCysTrpArgArgArg;Ser271_Val272del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032870"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1090,
          "referenceAllele": "G",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_006724533.2:c.796del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724596.2:p.Glu266SerfsTer11",
        "hgvsWellDefined": "XP_006724596.2:p.[Glu266_Leu276delinsSerSer;Ala278_Ala292delinsTrpCysTrpArgArgArg;Ser294_Val295del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075567"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2489,
          "referenceAllele": "G",
          "start": 2488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543915.1:c.946del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542217.1:p.Glu316SerfsTer11",
        "hgvsWellDefined": "XP_011542217.1:p.[Glu316_Leu326delinsSerSer;Ala328_Ala342delinsTrpCysTrpArgArgArg;Ser344_Val345del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110828"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2331,
          "referenceAllele": "G",
          "start": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543916.1:c.946del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542218.1:p.Glu316SerfsTer11",
        "hgvsWellDefined": "XP_011542218.1:p.[Glu316_Leu326delinsSerSer;Ala328_Ala342delinsTrpCysTrpArgArgArg;Ser344_Val345del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110829"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1039,
          "referenceAllele": "G",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543917.1:c.745del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542219.1:p.Glu249SerfsTer11",
        "hgvsWellDefined": "XP_011542219.1:p.[Glu249_Leu259delinsSerSer;Ala261_Ala275delinsTrpCysTrpArgArgArg;Ser277_Val278del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110830"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2519,
          "referenceAllele": "G",
          "start": 2518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543918.1:c.982del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542220.1:p.Glu328SerfsTer11",
        "hgvsWellDefined": "XP_011542220.1:p.[Glu328_Leu338delinsSerSer;Ala340_Ala354delinsTrpCysTrpArgArgArg;Ser356_Val357del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110831"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2481,
          "referenceAllele": "G",
          "start": 2480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543919.1:c.946del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542221.1:p.Glu316SerfsTer11",
        "hgvsWellDefined": "XP_011542221.1:p.[Glu316_Leu326delinsSerSer;Ala328_Ala342delinsTrpCysTrpArgArgArg;Ser344_Val345del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110832"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_017029567.1:c.673del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885056.1:p.Glu225SerfsTer11",
        "hgvsWellDefined": "XP_016885056.1:p.[Glu225_Leu235delinsSerSer;Ala237_Ala251delinsTrpCysTrpArgArgArg;Ser253_Val254del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579085"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "NM_001114377.2:c.622del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107849.1:p.Glu208SerfsTer11",
        "hgvsWellDefined": "NP_001107849.1:p.[Glu208_Leu218delinsSerSer;Ala220_Ala234delinsTrpCysTrpArgArgArg;Ser236_Val237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676745"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "NM_014009.4:c.727del"
      ],
      "proteinEffect": {
        "hgvs": "NP_054728.2:p.Glu243SerfsTer11",
        "hgvsWellDefined": "NP_054728.2:p.[Glu243_Leu253delinsSerSer;Ala255_Ala269delinsTrpCysTrpArgArgArg;Ser271_Val272del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697169",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376207.10:c.727del"
          },
          "RefSeq": {
            "hgvs": "NM_014009.4:c.727del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365380.4:p.Glu243SerfsTer11"
          },
          "RefSeq": {
            "hgvs": "NP_054728.2:p.Glu243SerfsTer11"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}