{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2573140592",
  "communityStandardTitle": [
    "NM_000416.3(IFNGR1):c.805del (p.Tyr269IlefsTer8)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1426199[alleleid]",
        "alleleId": 1426199,
        "preferredName": "NM_000416.3(IFNGR1):c.805del (p.Tyr269fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1451799",
        "RCV": [
          "RCV001993343"
        ],
        "variationId": 1451799
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2114462231",
        "rs": 2114462231
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 137200941,
          "referenceAllele": "A",
          "start": 137200940
        }
      ],
      "hgvs": [
        "NC_000006.12:g.137200941del",
        "CM000668.2:g.137200941del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 137522078,
          "referenceAllele": "A",
          "start": 137522077
        }
      ],
      "hgvs": [
        "NC_000006.11:g.137522078del",
        "CM000668.1:g.137522078del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 137563771,
          "referenceAllele": "A",
          "start": 137563770
        }
      ],
      "hgvs": [
        "NC_000006.10:g.137563771del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 23494,
          "referenceAllele": "T",
          "start": 23493
        }
      ],
      "hgvs": [
        "NG_007394.1:g.23494del",
        "LRG_66:g.23494del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000562"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1038,
          "referenceAllele": "T",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000414770.6:c.775del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394230.2:p.Tyr259IlefsTer8",
        "hgvsWellDefined": "ENSP00000394230.2:p.[Tyr259del;Lys261_Pro265del;Lys267_Glu268delinsArg;Ser270_Ile272del;Pro274_Leu277del;Ser279_Thr288delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904710"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 825,
          "referenceAllele": "T",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000458076.6:c.703del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389249.2:p.Tyr235IlefsTer8",
        "hgvsWellDefined": "ENSP00000389249.2:p.[Tyr235del;Lys237_Pro241del;Lys243_Glu244delinsArg;Ser246_Ile248del;Pro250_Leu253del;Ser255_Thr264delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905059"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 753,
          "referenceAllele": "T",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000696693.1:c.682del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512814.1:p.Tyr228IlefsTer8",
        "hgvsWellDefined": "ENSP00000512814.1:p.[Tyr228del;Lys230_Pro234del;Lys236_Glu237delinsArg;Ser239_Ile241del;Pro243_Leu246del;Ser248_Thr257delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908138"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 791,
          "endIntronDirection": "-",
          "endIntronOffset": 2297,
          "referenceAllele": "T",
          "start": 791,
          "startIntronDirection": "-",
          "startIntronOffset": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000696694.1:c.734-2298del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512815.1:n.734-2298del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908139"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 784,
          "endIntronDirection": "-",
          "endIntronOffset": 2297,
          "referenceAllele": "T",
          "start": 784,
          "startIntronDirection": "-",
          "startIntronOffset": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000696695.1:c.700-2298del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512816.1:n.700-2298del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908140"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 925,
          "referenceAllele": "T",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000696696.1:c.*704del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512817.1:n.*704del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908141"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 976,
          "referenceAllele": "T",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000696697.1:c.751del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512818.1:p.Tyr251IlefsTer8",
        "hgvsWellDefined": "ENSP00000512818.1:p.[Tyr251del;Lys253_Pro257del;Lys259_Glu260delinsArg;Ser262_Ile264del;Pro266_Leu269del;Ser271_Thr280delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908142"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 889,
          "referenceAllele": "T",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000696698.1:c.*259del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512819.1:n.*259del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908143"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 863,
          "referenceAllele": "T",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000367739.9:c.805del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356713.5:p.Tyr269IlefsTer8",
        "hgvsWellDefined": "ENSP00000356713.5:p.[Tyr269del;Lys271_Pro275del;Lys277_Glu278delinsArg;Ser280_Ile282del;Pro284_Leu287del;Ser289_Thr298delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750072",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367739.9:c.805del"
          },
          "RefSeq": {
            "hgvs": "NM_000416.3:c.805del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356713.5:p.Tyr269IlefsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_000407.1:p.Tyr269IlefsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 924,
          "referenceAllele": "T",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000642390.1:c.748del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496468.1:p.Tyr250IlefsTer8",
        "hgvsWellDefined": "ENSP00000496468.1:p.[Tyr250del;Lys252_Pro256del;Lys258_Glu259delinsArg;Ser261_Ile263del;Pro265_Leu268del;Ser270_Thr279delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766715"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 925,
          "referenceAllele": "T",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000643119.1:c.925del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495934.1:n.925del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767100"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1293,
          "referenceAllele": "T",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000644894.1:c.682del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495272.1:p.Tyr228IlefsTer8",
        "hgvsWellDefined": "ENSP00000495272.1:p.[Tyr228del;Lys230_Pro234del;Lys236_Glu237delinsArg;Ser239_Ile241del;Pro243_Leu246del;Ser248_Thr257delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768060"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 914,
          "referenceAllele": "T",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000645045.1:c.914del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768142"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 749,
          "referenceAllele": "T",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000645753.1:c.682del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495103.1:p.Tyr228IlefsTer8",
        "hgvsWellDefined": "ENSP00000495103.1:p.[Tyr228del;Lys230_Pro234del;Lys236_Glu237delinsArg;Ser239_Ile241del;Pro243_Leu246del;Ser248_Thr257delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768527"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 984,
          "referenceAllele": "T",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000646036.1:c.775del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496387.1:p.Tyr259IlefsTer8",
        "hgvsWellDefined": "ENSP00000496387.1:p.[Tyr259del;Lys261_Pro265del;Lys267_Glu268delinsArg;Ser270_Ile272del;Pro274_Leu277del;Ser279_Thr288delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768662"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1320,
          "referenceAllele": "T",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000646898.1:c.775del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494069.1:p.Tyr259IlefsTer8",
        "hgvsWellDefined": "ENSP00000494069.1:p.[Tyr259del;Lys261_Pro265del;Lys267_Glu268delinsArg;Ser270_Ile272del;Pro274_Leu277del;Ser279_Thr288delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769125"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 765,
          "referenceAllele": "T",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000647124.1:c.682del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496549.1:p.Tyr228IlefsTer8",
        "hgvsWellDefined": "ENSP00000496549.1:p.[Tyr228del;Lys230_Pro234del;Lys236_Glu237delinsArg;Ser239_Ile241del;Pro243_Leu246del;Ser248_Thr257delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769247"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 927,
          "referenceAllele": "T",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000367739.8:c.805del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356713.4:p.Tyr269IlefsTer8",
        "hgvsWellDefined": "ENSP00000356713.4:p.[Tyr269del;Lys271_Pro275del;Lys277_Glu278delinsArg;Ser280_Ile282del;Pro284_Leu287del;Ser289_Thr298delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266552"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 844,
          "referenceAllele": "T",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000543628.5:c.801del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443282.2:p.Phe267LeufsTer3",
        "hgvsWellDefined": "ENSP00000443282.2:p.[Phe267_Ile268del;Arg270_His274delinsTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364105"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 908,
          "referenceAllele": "T",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "NM_000416.2:c.805del",
        "LRG_66t1:c.805del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000407.1:p.Tyr269IlefsTer8",
        "hgvsWellDefined": "NP_000407.1:p.[Tyr269del;Lys271_Pro275del;Lys277_Glu278delinsArg;Ser280_Ile282del;Pro284_Leu287del;Ser289_Thr298delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006478"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1269,
          "referenceAllele": "T",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "XM_006715470.2:c.775del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715533.1:p.Tyr259IlefsTer8",
        "hgvsWellDefined": "XP_006715533.1:p.[Tyr259del;Lys261_Pro265del;Lys267_Glu268delinsArg;Ser270_Ile272del;Pro274_Leu277del;Ser279_Thr288delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071177"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1158,
          "referenceAllele": "T",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "XM_006715471.2:c.682del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715534.1:p.Tyr228IlefsTer8",
        "hgvsWellDefined": "XP_006715534.1:p.[Tyr228del;Lys230_Pro234del;Lys236_Glu237delinsArg;Ser239_Ile241del;Pro243_Leu246del;Ser248_Thr257delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071178"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1433,
          "referenceAllele": "T",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "XM_011535793.1:c.775del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534095.1:p.Tyr259IlefsTer8",
        "hgvsWellDefined": "XP_011534095.1:p.[Tyr259del;Lys261_Pro265del;Lys267_Glu268delinsArg;Ser270_Ile272del;Pro274_Leu277del;Ser279_Thr288delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102795"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 885,
          "referenceAllele": "T",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "XM_011535794.1:c.775del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534096.1:p.Tyr259IlefsTer8",
        "hgvsWellDefined": "XP_011534096.1:p.[Tyr259del;Lys261_Pro265del;Lys267_Glu268delinsArg;Ser270_Ile272del;Pro274_Leu277del;Ser279_Thr288delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102796"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1044,
          "referenceAllele": "T",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "NM_001363526.1:c.775del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350455.1:p.Tyr259IlefsTer8",
        "hgvsWellDefined": "NP_001350455.1:p.[Tyr259del;Lys261_Pro265del;Lys267_Glu268delinsArg;Ser270_Ile272del;Pro274_Leu277del;Ser279_Thr288delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523353"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1245,
          "referenceAllele": "T",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "NM_001363527.1:c.682del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350456.1:p.Tyr228IlefsTer8",
        "hgvsWellDefined": "NP_001350456.1:p.[Tyr228del;Lys230_Pro234del;Lys236_Glu237delinsArg;Ser239_Ile241del;Pro243_Leu246del;Ser248_Thr257delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523354"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1315,
          "referenceAllele": "T",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "XM_006715470.3:c.775del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715533.1:p.Tyr259IlefsTer8",
        "hgvsWellDefined": "XP_006715533.1:p.[Tyr259del;Lys261_Pro265del;Lys267_Glu268delinsArg;Ser270_Ile272del;Pro274_Leu277del;Ser279_Thr288delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538943"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1940,
          "referenceAllele": "T",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "XM_011535793.2:c.775del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534095.1:p.Tyr259IlefsTer8",
        "hgvsWellDefined": "XP_011534095.1:p.[Tyr259del;Lys261_Pro265del;Lys267_Glu268delinsArg;Ser270_Ile272del;Pro274_Leu277del;Ser279_Thr288delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552184"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 863,
          "referenceAllele": "T",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "NM_000416.3:c.805del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000407.1:p.Tyr269IlefsTer8",
        "hgvsWellDefined": "NP_000407.1:p.[Tyr269del;Lys271_Pro275del;Lys277_Glu278delinsArg;Ser280_Ile282del;Pro284_Leu287del;Ser289_Thr298delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367739.9:c.805del"
          },
          "RefSeq": {
            "hgvs": "NM_000416.3:c.805del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356713.5:p.Tyr269IlefsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_000407.1:p.Tyr269IlefsTer8"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}