{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7169463",
  "communityStandardTitle": [
    "NM_020937.4(FANCM):c.3088C>T (p.Arg1030Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=79361",
        "active": true,
        "id": "COSM79361"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2111949[alleleid]",
        "alleleId": 2111949,
        "preferredName": "NM_020937.4(FANCM):c.3088C>T (p.Arg1030Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2052771",
        "RCV": [
          "RCV002937698"
        ],
        "variationId": 2052771
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-45645045-C-T",
        "id": "14-45645045-C-T",
        "variant": "14:45645045 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.45645045C>T?assembly=hg19",
        "id": "chr14:g.45645045C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.45175842C>T?assembly=hg38",
        "id": "chr14:g.45175842C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/759378949",
        "rs": 759378949
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-45645045-C-T?dataset=gnomad_r2_1",
        "id": "14-45645045-C-T",
        "variant": "14:45645045 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-45175842-C-T?dataset=gnomad_r3",
        "id": "14-45175842-C-T",
        "variant": "14:45175842 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-45175842-C-T?dataset=gnomad_r4",
        "id": "14-45175842-C-T",
        "variant": "14:45175842 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 45175842,
          "referenceAllele": "C",
          "start": 45175841
        }
      ],
      "hgvs": [
        "NC_000014.9:g.45175842C>T",
        "CM000676.2:g.45175842C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 45645045,
          "referenceAllele": "C",
          "start": 45645044
        }
      ],
      "hgvs": [
        "NC_000014.8:g.45645045C>T",
        "CM000676.1:g.45645045C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 44714795,
          "referenceAllele": "C",
          "start": 44714794
        }
      ],
      "hgvs": [
        "NC_000014.7:g.44714795C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 44910,
          "referenceAllele": "C",
          "start": 44909
        }
      ],
      "hgvs": [
        "NG_007417.1:g.44910C>T",
        "LRG_502:g.44910C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000573"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000554809.6:c.1300C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450632.2:p.Arg434Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905861"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2983,
          "referenceAllele": "C",
          "start": 2982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000556250.6:c.2881C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452033.2:p.Arg961Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3031,
          "referenceAllele": "C",
          "start": 3030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696641.1:c.2929C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512774.1:p.Arg977Ter",
        "hgvsWellDefined": "ENSP00000512774.1:p.Arg977Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2994,
          "referenceAllele": "C",
          "start": 2993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696642.1:c.*1899C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512775.1:n.*1899C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2969,
          "referenceAllele": "C",
          "start": 2968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696646.1:c.*1899C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512777.1:n.*1899C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3167,
          "referenceAllele": "C",
          "start": 3166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696647.1:c.3088C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512778.1:p.Arg1030Ter",
        "hgvsWellDefined": "ENSP00000512778.1:p.Arg1030_Cys1796delinsSerAspLysCysThrCysLeuLeuSerHisSerAlaValAsnSerGlnGlnAsnLeuGluLeuAsnSerLeuLysCysIleAsnTyrProSerGluLysSerCysLeuTyrAspIleProAsnAspAsnIleSerAspGluProSerLeuCysAspCysAspValHisLysHisAsnGlnAsnGluAsnLeuValProAsnAsnArgValGlnIleHisArgSerProAlaGlnAsnLeuValGlyGluAsnAsnHisAspValAspAsnSerAspLeuProValLeuSerThrAspGlnAspGluSerLeuLeuLeuPheGluAspValAsnThrGluPheAspAspValSerLeuSerProLeuAsnSerLysSerGluSerLeuProValSerAspLysThrAlaIleSerGluThrProLeuValSerGlnPheLeuIleSerAspGluLeuLeuLeuAspAsnAsnSerGluLeuGlnAspGlnIleThrArgAspAlaAsnSerPheLysSerArgAspGlnArgGlyValGlnGluGluLysValLysAsnHisGluAspIlePheAspCysSerArgAspLeuPheSerValThrPheAspLeuGlyPheCysSerProAspSerAspAspGluIleLeuGluHisThrSerAspSerAsnArgProLeuAspAspLeuTyrGlyArgTyrLeuGluIleLysGluIleSerAspAlaAsnTyrValSerAsnGlnAlaLeuIleProArgAspHisSerLysAsnPheThrSerGlyThrValIleIleProSerAsnGluAspMetGlnAsnProAsnTyrValHisLeuProLeuSerAlaAlaLysAsnGluGluLeuLeuSerProGlyTyrSerGlnPheSerLeuProValGlnLysLysValMetSerThrProLeuSerLysSerAsnThrLeuAsnSerPheSerLysIleArgLysGluIleLeuLysThrProAspSerSerLysGluLysValAsnLeuGlnArgPheLysGluAlaLeuAsnSerThrPheAspTyrSerGluPheSerLeuGluLysSerLysSerSerGlyProMetTyrLeuHisLysSerCysHisSerValGluAspGlyGlnLeuLeuThrSerAsnGluSerGluAspAspGluIlePheArgArgLysValLysArgAlaLysGlyAsnValLeuAsnSerProGluAspGlnLysAsnSerGluValAspSerProLeuHisAlaValLysLysArgArgPheProIleAsnArgSerGluLeuSerSerSerAspGluSerGluAsnPheProLysProCysSerGlnLeuGluAspPheLysValCysAsnGlyAsnAlaArgArgGlyIleLysValProLysArgGlnSerHisLeuLysHisValAlaArgLysPheLeuAspAspGluAlaGluLeuSerGluGluAspAlaGluTyrValSerSerAspGluAsnAspGluSerGluAsnGluGlnAspSerSerLeuLeuAspPheLeuAsnAspGluThrGlnLeuSerGlnAlaIleAsnAspSerGluMetArgAlaIleTyrMetLysSerLeuArgSerProMetMetAsnAsnLysTyrLysMetIleHisLysThrHisLysAsnIleAsnIlePheSerGlnIleProGluGlnAspGluThrTyrLeuGluAspSerPheCysValAspGluGluGluSerCysLysGlyGlnSerSerGluGluGluValCysValAspPheAsnLeuIleThrAspAspCysPheAlaAsnSerLysLysTyrLysThrArgArgAlaValMetLeuLysGluMetMetGluGlnAsnCysAlaHisSerLysLysLysLeuSerArgIleIleLeuProAspAspSerSerGluGluGluAsnAsnValAsnAspLysArgGluSerAsnIleAlaValAsnProSerThrValLysLysAsnLysGlnGlnAspHisCysLeuAsnSerValProSerGlySerSerAlaGlnSerLysValArgSerThrProArgValAsnProLeuAlaLysGlnSerLysGlnThrSerLeuAsnLeuLysAspThrIleSerGluValSerAspPheLysProGlnAsnHisAsnGluValGlnSerThrThrProProPheThrThrValAspSerGlnLysAspCysArgLysPheProValProGlnLysGluThrHisGlnGlyCysLeuGlyGluGlnArgAlaMetThrAlaCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3242,
          "referenceAllele": "C",
          "start": 3241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696648.1:c.*1113C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512779.1:n.*1113C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2961,
          "referenceAllele": "C",
          "start": 2960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696649.1:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512780.1:p.Arg978Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3036,
          "referenceAllele": "C",
          "start": 3035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696650.1:n.3036C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1086,
          "referenceAllele": "C",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696659.1:c.1086C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908105"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1905,
          "referenceAllele": "C",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696663.1:c.1905C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908108"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1905,
          "referenceAllele": "C",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696664.1:c.1905C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908109"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3149,
          "referenceAllele": "C",
          "start": 3148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696675.1:c.3088C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512799.1:p.Arg1030Ter",
        "hgvsWellDefined": "ENSP00000512799.1:p.Arg1030_Lys1431delinsSerAspLysCysThrCysLeuLeuSerHisSerAlaValAsnSerGlnGlnAsnLeuGluLeuAsnSerLeuLysCysIleAsnTyrProSerGluLysSerCysLeuTyrAspIleProAsnAspAsnIleSerAspGluProSerLeuCysAspCysAspValHisLysHisAsnGlnAsnGluAsnLeuValProAsnAsnArgValGlnIleHisArgSerProAlaGlnAsnLeuValGlyGluAsnAsnHisAspValAspAsnSerAspLeuProValLeuSerThrAspGlnAspGluSerLeuLeuLeuPheGluAspValAsnThrGluPheAspAspValSerLeuSerProLeuAsnSerLysSerGluSerLeuProValSerAspLysThrAlaIleSerGluThrProLeuValSerGlnPheLeuIleSerAspGluLeuLeuLeuAspAsnAsnSerGluLeuGlnAspGlnIleThrArgAspAlaAsnSerPheLysSerArgAspGlnArgGlyValGlnGluGluLysValLysAsnHisGluAspIlePheAspCysSerArgAspLeuPheSerValThrPheAspLeuGlyPheCysSerProAspSerAspAspGluIleLeuGluHisThrSerAspSerAsnArgProLeuAspAspLeuTyrGlyArgTyrLeuGluIleLysGluIleSerAspAlaAsnTyrValSerAsnGlnAlaLeuIleProArgAspHisSerLysAsnPheThrSerGlyThrValIleIleProSerAsnGluAspMetGlnAsnProAsnTyrValHisLeuProLeuSerAlaAlaLysAsnGluGluLeuLeuSerProGlyTyrSerGlnPheSerLeuProValGlnLysLysValMetSerThrProLeuSerLysSerAsnThrLeuAsnSerPheSerLysIleArgLysGluIleLeuLysThrProAspSerSerLysGluLysValAsnLeuGlnArgPheLysGluAlaLeuAsnSerThrPheAspTyrSerGluPheSerLeuGluLysSerLysSerSerGlyProMetTyrLeuHisLysSerCysHisSerValGluAlaTrpArgThrTrpPheValAsnValLeuPheLysMetLysAlaCysTrpLysTrpThrIleIleAsnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1905,
          "referenceAllele": "C",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696683.1:c.1905C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1905,
          "referenceAllele": "C",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696684.1:c.1905C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1905,
          "referenceAllele": "C",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000696685.1:c.1905C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3190,
          "referenceAllele": "C",
          "start": 3189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000267430.10:c.3088C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267430.5:p.Arg1030Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742993",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267430.10:c.3088C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020937.4:c.3088C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267430.5:p.Arg1030Ter"
          },
          "RefSeq": {
            "hgvs": "NP_065988.1:p.Arg1030Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3173,
          "referenceAllele": "C",
          "start": 3172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000267430.9:c.3088C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267430.5:p.Arg1030Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3088,
          "referenceAllele": "C",
          "start": 3087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000542564.6:c.3010C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442493.2:p.Arg1004Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1636,
          "referenceAllele": "C",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "ENST00000556250.5:c.1636C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452033.1:p.Arg546Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3103,
          "referenceAllele": "C",
          "start": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "NM_001308133.1:c.3010C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295062.1:p.Arg1004Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3187,
          "referenceAllele": "C",
          "start": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "NM_020937.2:c.3088C>T",
        "LRG_502t1:c.3088C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065988.1:p.Arg1030Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3181,
          "referenceAllele": "C",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "NM_020937.3:c.3088C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065988.1:p.Arg1030Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3180,
          "referenceAllele": "C",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_011537034.1:c.3088C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535336.1:p.Arg1030Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3102,
          "referenceAllele": "C",
          "start": 3101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_011537035.1:c.3010C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535337.1:p.Arg1004Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3180,
          "referenceAllele": "C",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_011537036.1:c.3088C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535338.1:p.Arg1030Ter",
        "hgvsWellDefined": "XP_011535338.1:p.Arg1030_Cys1801delinsSerAspLysCysThrCysLeuLeuSerHisSerAlaValAsnSerGlnGlnAsnLeuGluLeuAsnSerLeuLysCysIleAsnTyrProSerGluLysSerCysLeuTyrAspIleProAsnAspAsnIleSerAspGluProSerLeuCysAspCysAspValHisLysHisAsnGlnAsnGluAsnLeuValProAsnAsnArgValGlnIleHisArgSerProAlaGlnAsnLeuValGlyGluAsnAsnHisAspValAspAsnSerAspLeuProValLeuSerThrAspGlnAspGluSerLeuLeuLeuPheGluAspValAsnThrGluPheAspAspValSerLeuSerProLeuAsnSerLysSerGluSerLeuProValSerAspLysThrAlaIleSerGluThrProLeuValSerGlnPheLeuIleSerAspGluLeuLeuLeuAspAsnAsnSerGluLeuGlnAspGlnIleThrArgAspAlaAsnSerPheLysSerArgAspGlnArgGlyValGlnGluGluLysValLysAsnHisGluAspIlePheAspCysSerArgAspLeuPheSerValThrPheAspLeuGlyPheCysSerProAspSerAspAspGluIleLeuGluHisThrSerAspSerAsnArgProLeuAspAspLeuTyrGlyArgTyrLeuGluIleLysGluIleSerAspAlaAsnTyrValSerAsnGlnAlaLeuIleProArgAspHisSerLysAsnPheThrSerGlyThrValIleIleProSerAsnGluAspMetGlnAsnProAsnTyrValHisLeuProLeuSerAlaAlaLysAsnGluGluLeuLeuSerProGlyTyrSerGlnPheSerLeuProValGlnLysLysValMetSerThrProLeuSerLysSerAsnThrLeuAsnSerPheSerLysIleArgLysGluIleLeuLysThrProAspSerSerLysGluLysValAsnLeuGlnArgPheLysGluAlaLeuAsnSerThrPheAspTyrSerGluPheSerLeuGluLysSerLysSerSerGlyProMetTyrLeuHisLysSerCysHisSerValGluAspGlyGlnLeuLeuThrSerAsnGluSerGluAspAspGluIlePheArgArgLysValLysArgAlaLysGlyAsnValLeuAsnSerProGluAspGlnLysAsnSerGluValAspSerProLeuHisAlaValLysLysArgArgPheProIleAsnArgValSerLysTyrGlnSerGluLeuSerSerSerAspGluSerGluAsnPheProLysProCysSerGlnLeuGluAspPheLysValCysAsnGlyAsnAlaArgArgGlyIleLysValProLysArgGlnSerHisLeuLysHisValAlaArgLysPheLeuAspAspGluAlaGluLeuSerGluGluAspAlaGluTyrValSerSerAspGluAsnAspGluSerGluAsnGluGlnAspSerSerLeuLeuAspPheLeuAsnAspGluThrGlnLeuSerGlnAlaIleAsnAspSerGluMetArgAlaIleTyrMetLysSerLeuArgSerProMetMetAsnAsnLysTyrLysMetIleHisLysThrHisLysAsnIleAsnIlePheSerGlnIleProGluGlnAspGluThrTyrLeuGluAspSerPheCysValAspGluGluGluSerCysLysGlyGlnSerSerGluGluGluValCysValAspPheAsnLeuIleThrAspAspCysPheAlaAsnSerLysLysTyrLysThrArgArgAlaValMetLeuLysGluMetMetGluGlnAsnCysAlaHisSerLysLysLysLeuSerArgIleIleLeuProAspAspSerSerGluGluGluAsnAsnValAsnAspLysArgGluSerAsnIleAlaValAsnProSerThrValLysLysAsnLysGlnGlnAspHisCysLeuAsnSerValProSerGlySerSerAlaGlnSerLysValArgSerThrProArgValAsnProLeuAlaLysGlnSerLysGlnThrSerLeuAsnLeuLysAspThrIleSerGluValSerAspPheLysProGlnAsnHisAsnGluValGlnSerThrThrProProPheThrThrValAspSerGlnLysAspCysArgLysPheProValProGlnLysGluThrHisGlnGlyCysLeuGlyGluGlnArgAlaMetThrAlaCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1181,
          "referenceAllele": "C",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_011537037.1:c.1102C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535339.1:p.Arg368Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3180,
          "referenceAllele": "C",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_011537034.2:c.3088C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535336.1:p.Arg1030Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3102,
          "referenceAllele": "C",
          "start": 3101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_011537035.3:c.3010C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535337.1:p.Arg1004Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1660,
          "referenceAllele": "C",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_011537037.3:c.1102C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535339.1:p.Arg368Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3180,
          "referenceAllele": "C",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_017021523.1:c.3088C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877012.1:p.Arg1030Ter",
        "hgvsWellDefined": "XP_016877012.1:p.Arg1030_Gly1801delinsSerAspLysCysThrCysLeuLeuSerHisSerAlaValAsnSerGlnGlnAsnLeuGluLeuAsnSerLeuLysCysIleAsnTyrProSerGluLysSerCysLeuTyrAspIleProAsnAspAsnIleSerAspGluProSerLeuCysAspCysAspValHisLysHisAsnGlnAsnGluAsnLeuValProAsnAsnArgValGlnIleHisArgSerProAlaGlnAsnLeuValGlyGluAsnAsnHisAspValAspAsnSerAspLeuProValLeuSerThrAspGlnAspGluSerLeuLeuLeuPheGluAspValAsnThrGluPheAspAspValSerLeuSerProLeuAsnSerLysSerGluSerLeuProValSerAspLysThrAlaIleSerGluThrProLeuValSerGlnPheLeuIleSerAspGluLeuLeuLeuAspAsnAsnSerGluLeuGlnAspGlnIleThrArgAspAlaAsnSerPheLysSerArgAspGlnArgGlyValGlnGluGluLysValLysAsnHisGluAspIlePheAspCysSerArgAspLeuPheSerValThrPheAspLeuGlyPheCysSerProAspSerAspAspGluIleLeuGluHisThrSerAspSerAsnArgProLeuAspAspLeuTyrGlyArgTyrLeuGluIleLysGluIleSerAspAlaAsnTyrValSerAsnGlnAlaLeuIleProArgAspHisSerLysAsnPheThrSerGlyThrValIleIleProSerAsnGluAspMetGlnAsnProAsnTyrValHisLeuProLeuSerAlaAlaLysAsnGluGluLeuLeuSerProGlyTyrSerGlnPheSerLeuProValGlnLysLysValMetSerThrProLeuSerLysSerAsnThrLeuAsnSerPheSerLysIleArgLysGluIleLeuLysThrProAspSerSerLysGluLysValAsnLeuGlnArgPheLysGluAlaLeuAsnSerThrPheAspTyrSerGluPheSerLeuGluLysSerLysSerSerGlyProMetTyrLeuHisLysSerCysHisSerValGluAspGlyGlnLeuLeuThrSerAsnGluSerGluAspAspGluIlePheArgArgLysValLysArgAlaLysGlyAsnValLeuAsnSerProGluAspGlnLysAsnSerGluValAspSerProLeuHisAlaValLysLysArgArgPheProIleAsnArgValSerLysTyrGlnSerGluLeuSerSerSerAspGluSerGluAsnPheProLysProCysSerGlnLeuGluAspPheLysValCysAsnGlyAsnAlaArgArgGlyIleLysValProLysArgGlnSerHisLeuLysHisValAlaArgLysPheLeuAspAspGluAlaGluLeuSerGluGluAspAlaGluTyrValSerSerAspGluAsnAspGluSerGluAsnGluGlnAspSerSerLeuLeuAspPheLeuAsnAspGluThrGlnLeuSerGlnAlaIleAsnAspSerGluMetArgAlaIleTyrMetLysSerLeuArgSerProMetMetAsnAsnLysTyrLysMetIleHisLysThrHisLysAsnIleAsnIlePheSerGlnIleProGluGlnAspGluThrTyrLeuGluAspSerPheCysValAspGluGluGluSerCysLysGlyGlnSerSerGluGluGluValCysValAspPheAsnLeuIleThrAspAspCysPheAlaAsnSerLysLysTyrLysThrArgArgAlaValMetLeuLysGluMetMetGluGlnAsnCysAlaHisSerLysLysLysLeuSerArgIleIleLeuProAspAspSerSerGluGluGluAsnAsnValAsnAspLysArgGluSerAsnIleAlaValAsnProSerThrValLysLysAsnLysGlnGlnAspHisCysLeuAsnSerValProSerGlySerSerAlaGlnSerLysValArgSerThrProArgValAsnProLeuAlaLysGlnSerLysGlnThrSerLeuAsnLeuLysAspThrIleSerGluValSerAspPheLysProGlnAsnHisAsnGluValGlnSerThrThrProProPheThrThrValAspSerGlnLysAspCysArgLysPheProValProGlnLysLeuThrSerArgAsnLeuHisValCysThrSerAsnSerSerGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2402,
          "referenceAllele": "C",
          "start": 2401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_017021524.2:c.2125C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877013.1:p.Arg709Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2969,
          "referenceAllele": "C",
          "start": 2968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_017021525.2:c.1903C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877014.1:p.Arg635Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2213,
          "referenceAllele": "C",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_017021526.2:c.1903C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877015.1:p.Arg635Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2994,
          "referenceAllele": "C",
          "start": 2993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XM_017021527.1:c.1903C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877016.1:p.Arg635Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3180,
          "referenceAllele": "C",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XR_001750470.1:n.3180C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3180,
          "referenceAllele": "C",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XR_001750471.2:n.3180C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3180,
          "referenceAllele": "C",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "XR_001750472.1:n.3180C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3190,
          "referenceAllele": "C",
          "start": 3189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "NM_020937.4:c.3088C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065988.1:p.Arg1030Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267430.10:c.3088C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020937.4:c.3088C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267430.5:p.Arg1030Ter"
          },
          "RefSeq": {
            "hgvs": "NP_065988.1:p.Arg1030Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3112,
          "referenceAllele": "C",
          "start": 3111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023168",
      "geneNCBI_id": 57697,
      "geneSymbol": "FANCM",
      "hgvs": [
        "NM_001308133.2:c.3010C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295062.1:p.Arg1004Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683939"
    }
  ],
  "type": "nucleotide"
}