{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA334794",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=265664",
        "active": true,
        "id": "COSM265664"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186804[alleleid]",
        "alleleId": 186804,
        "preferredName": "NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189104",
        "RCV": [
          "RCV000169516",
          "RCV000579481",
          "RCV001564923",
          "RCV003468846"
        ],
        "variationId": 189104
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-108213987-G-A",
        "id": "11-108213987-G-A",
        "variant": "11:108213987 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108213987G>A?assembly=hg19",
        "id": "chr11:g.108213987G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108343260G>A?assembly=hg38",
        "id": "chr11:g.108343260G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/778269655",
        "rs": 778269655
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108213987-G-A?dataset=gnomad_r2_1",
        "id": "11-108213987-G-A",
        "variant": "11:108213987 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108343260-G-A?dataset=gnomad_r3",
        "id": "11-108343260-G-A",
        "variant": "11:108343260 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108343260-G-A?dataset=gnomad_r4",
        "id": "11-108343260-G-A",
        "variant": "11:108343260 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 108343260,
          "referenceAllele": "G",
          "start": 108343259
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108343260G>A",
        "CM000673.2:g.108343260G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 108213987,
          "referenceAllele": "G",
          "start": 108213986
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108213987G>A",
        "CM000673.1:g.108213987G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 107719197,
          "referenceAllele": "G",
          "start": 107719196
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107719197G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 125429,
          "referenceAllele": "G",
          "start": 125428
        }
      ],
      "hgvs": [
        "NG_009830.1:g.125429G>A",
        "LRG_135:g.125429G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 131573,
          "referenceAllele": "C",
          "start": 131572
        }
      ],
      "hgvs": [
        "NG_054724.1:g.131573C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617495"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8789,
          "referenceAllele": "G",
          "start": 8788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Trp2769Ter",
        "hgvsWellDefined": "ENSP00000388058.2:p.Trp2769_Val3056delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8435,
          "referenceAllele": "G",
          "start": 8434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.*7778G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:n.*7778G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8613,
          "referenceAllele": "G",
          "start": 8612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Trp2769Ter",
        "hgvsWellDefined": "ENSP00000278616.4:p.Trp2769_Val3056delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1005,
          "referenceAllele": "G",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000638786.2:n.1005G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3064,
          "referenceAllele": "G",
          "start": 3063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682286.1:n.3064G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2725,
          "referenceAllele": "G",
          "start": 2724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682302.1:n.2725G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9791,
          "referenceAllele": "G",
          "start": 9790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.9791G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3531,
          "referenceAllele": "G",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683524.1:n.3531G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3723,
          "referenceAllele": "G",
          "start": 3722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684152.1:n.3723G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 781,
          "referenceAllele": "G",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684180.1:n.781G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829138"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4800,
          "referenceAllele": "G",
          "start": 4799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684447.1:n.4800G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8158,
          "referenceAllele": "G",
          "start": 8157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.*3371G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:n.*3371G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8212,
          "referenceAllele": "G",
          "start": 8211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.*3442G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:n.*3442G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8457,
          "referenceAllele": "G",
          "start": 8456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.Trp2769Ter",
        "hgvsWellDefined": "ENSP00000501606.1:p.Trp2769_Val3056delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.8307G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.8307G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Trp2769Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Trp2769Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8692,
          "referenceAllele": "G",
          "start": 8691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Trp2769Ter",
        "hgvsWellDefined": "ENSP00000278616.4:p.Trp2769_Val3056delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8496,
          "referenceAllele": "G",
          "start": 8495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Trp2769Ter",
        "hgvsWellDefined": "ENSP00000388058.2:p.Trp2769_Val3056delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 226,
          "endIntronDirection": "-",
          "endIntronOffset": 7967,
          "referenceAllele": "C",
          "start": 226,
          "startIntronDirection": "-",
          "startIntronOffset": 7968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000524755.5:c.227-7968C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4522,
          "referenceAllele": "G",
          "start": 4521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000524792.5:n.4522G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 34188,
          "referenceAllele": "C",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 34189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000525729.5:c.641-34189C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433395.1:n.641-34189C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 271,
          "endIntronDirection": "-",
          "endIntronOffset": 2895,
          "referenceAllele": "C",
          "start": 271,
          "startIntronDirection": "-",
          "startIntronOffset": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000526725.1:n.272-2896C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2241,
          "endIntronDirection": "-",
          "endIntronOffset": 7967,
          "referenceAllele": "C",
          "start": 2241,
          "startIntronDirection": "-",
          "startIntronOffset": 7968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000527531.5:c.*1197-7968C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431706.1:n.*1197-7968C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2271,
          "endIntronDirection": "-",
          "endIntronOffset": 7967,
          "referenceAllele": "C",
          "start": 2271,
          "startIntronDirection": "-",
          "startIntronOffset": 7968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000615746.4:c.*1197-7968C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483537.1:n.*1197-7968C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA334796",
      "coordinates": [
        {
          "allele": "A",
          "end": 8692,
          "referenceAllele": "G",
          "start": 8691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.8307G>A",
        "LRG_135t1:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Trp2769Ter",
        "hgvsWellDefined": "NP_000042.3:p.Trp2769_Val3056delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 873,
          "endIntronDirection": "-",
          "endIntronOffset": 7967,
          "referenceAllele": "C",
          "start": 873,
          "startIntronDirection": "-",
          "startIntronOffset": 7968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_005271414.3:c.788-7968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271471.1:n.788-7968C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 817,
          "endIntronDirection": "-",
          "endIntronOffset": 7967,
          "referenceAllele": "C",
          "start": 817,
          "startIntronDirection": "-",
          "startIntronOffset": 7968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_005271415.3:c.732-7968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271472.1:n.732-7968C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8515,
          "referenceAllele": "G",
          "start": 8514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.Trp2769Ter",
        "hgvsWellDefined": "XP_005271618.2:p.Trp2769_Val3056delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8824,
          "referenceAllele": "G",
          "start": 8823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Trp2769Ter",
        "hgvsWellDefined": "XP_005271619.2:p.Trp2769_Val3056delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8447,
          "referenceAllele": "G",
          "start": 8446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Trp2769Ter",
        "hgvsWellDefined": "XP_006718906.1:p.Trp2769_Val3056delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4332,
          "referenceAllele": "G",
          "start": 4331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.1:c.4263G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.Trp1421Ter",
        "hgvsWellDefined": "XP_006718908.1:p.Trp1421_Val1708delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 873,
          "endIntronDirection": "-",
          "endIntronOffset": 2895,
          "referenceAllele": "C",
          "start": 873,
          "startIntronDirection": "-",
          "startIntronOffset": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_011542640.1:c.788-2896C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540942.1:n.788-2896C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 817,
          "endIntronDirection": "-",
          "endIntronOffset": 2895,
          "referenceAllele": "C",
          "start": 817,
          "startIntronDirection": "-",
          "startIntronOffset": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_011542643.1:c.732-2896C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540945.1:n.732-2896C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8535,
          "referenceAllele": "G",
          "start": 8534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Trp2769Ter",
        "hgvsWellDefined": "XP_011541142.1:p.Trp2769_Val3056delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9218,
          "referenceAllele": "G",
          "start": 9217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.Trp2769Ter",
        "hgvsWellDefined": "XP_011541143.1:p.Trp2769_Val3056delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8262,
          "referenceAllele": "G",
          "start": 8261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.8142G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Trp2714Ter",
        "hgvsWellDefined": "XP_011541144.1:p.Trp2714_Val3001delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9024,
          "referenceAllele": "G",
          "start": 9023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Trp2769Ter",
        "hgvsWellDefined": "XP_011541145.1:p.Trp2769_Ser2912delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGluCysArgLysArgSerValAsnValMetThrGluIleGlnAsnLeuGlnGlnIleAspPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7808,
          "referenceAllele": "G",
          "start": 7807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.1:c.7263G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Trp2421Ter",
        "hgvsWellDefined": "XP_011541146.1:p.Trp2421_Val2708delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7155,
          "referenceAllele": "G",
          "start": 7154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.1:c.6999G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Trp2333Ter",
        "hgvsWellDefined": "XP_011541147.1:p.Trp2333_Val2620delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3418,
          "referenceAllele": "G",
          "start": 3417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542847.1:c.3378G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541149.1:p.Trp1126Ter",
        "hgvsWellDefined": "XP_011541149.1:p.Trp1126_Val1413delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 34188,
          "referenceAllele": "C",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 34189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001330368.1:c.641-34189C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317297.1:n.641-34189C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "endIntronDirection": "-",
          "endIntronOffset": 7967,
          "referenceAllele": "C",
          "start": 764,
          "startIntronDirection": "-",
          "startIntronOffset": 7968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001351110.1:c.695-7968C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338039.1:n.695-7968C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916034727",
      "coordinates": [
        {
          "allele": "A",
          "end": 8780,
          "referenceAllele": "G",
          "start": 8779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Trp2769Ter",
        "hgvsWellDefined": "NP_001338763.1:p.Trp2769_Val3056delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2301,
          "endIntronDirection": "-",
          "endIntronOffset": 7967,
          "referenceAllele": "C",
          "start": 2301,
          "startIntronDirection": "-",
          "startIntronOffset": 7968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NR_147053.2:n.2302-7968C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530594"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 873,
          "endIntronDirection": "-",
          "endIntronOffset": 7967,
          "referenceAllele": "C",
          "start": 873,
          "startIntronDirection": "-",
          "startIntronOffset": 7968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_005271414.4:c.788-7968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271471.1:n.788-7968C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 817,
          "endIntronDirection": "-",
          "endIntronOffset": 7967,
          "referenceAllele": "C",
          "start": 817,
          "startIntronDirection": "-",
          "startIntronOffset": 7968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_005271415.4:c.732-7968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271472.1:n.732-7968C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8826,
          "referenceAllele": "G",
          "start": 8825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Trp2769Ter",
        "hgvsWellDefined": "XP_005271619.2:p.Trp2769_Val3056delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8459,
          "referenceAllele": "G",
          "start": 8458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Trp2769Ter",
        "hgvsWellDefined": "XP_006718906.1:p.Trp2769_Val3056delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4333,
          "referenceAllele": "G",
          "start": 4332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.2:c.4263G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.Trp1421Ter",
        "hgvsWellDefined": "XP_006718908.1:p.Trp1421_Val1708delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 873,
          "endIntronDirection": "-",
          "endIntronOffset": 2895,
          "referenceAllele": "C",
          "start": 873,
          "startIntronDirection": "-",
          "startIntronOffset": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_011542640.2:c.788-2896C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540942.1:n.788-2896C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 817,
          "endIntronDirection": "-",
          "endIntronOffset": 2895,
          "referenceAllele": "C",
          "start": 817,
          "startIntronDirection": "-",
          "startIntronOffset": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_011542643.2:c.732-2896C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540945.1:n.732-2896C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8547,
          "referenceAllele": "G",
          "start": 8546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Trp2769Ter",
        "hgvsWellDefined": "XP_011541142.1:p.Trp2769_Val3056delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8522,
          "referenceAllele": "G",
          "start": 8521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.8142G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Trp2714Ter",
        "hgvsWellDefined": "XP_011541144.1:p.Trp2714_Val3001delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9040,
          "referenceAllele": "G",
          "start": 9039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Trp2769Ter",
        "hgvsWellDefined": "XP_011541145.1:p.Trp2769_Ser2912delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGluCysArgLysArgSerValAsnValMetThrGluIleGlnAsnLeuGlnGlnIleAspPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8643,
          "referenceAllele": "G",
          "start": 8642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.7263G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Trp2421Ter",
        "hgvsWellDefined": "XP_011541146.1:p.Trp2421_Val2708delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7155,
          "referenceAllele": "G",
          "start": 7154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.2:c.6999G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Trp2333Ter",
        "hgvsWellDefined": "XP_011541147.1:p.Trp2333_Val2620delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 989,
          "endIntronDirection": "-",
          "endIntronOffset": 2895,
          "referenceAllele": "C",
          "start": 989,
          "startIntronDirection": "-",
          "startIntronOffset": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_017017247.1:c.904-2896C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872736.1:n.904-2896C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9250,
          "referenceAllele": "G",
          "start": 9249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.Trp2769Ter",
        "hgvsWellDefined": "XP_016873278.1:p.Trp2769_Val3056delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8647,
          "referenceAllele": "G",
          "start": 8646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.Trp2769Ter",
        "hgvsWellDefined": "XP_016873279.1:p.Trp2769_Val3056delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 708,
          "endIntronDirection": "-",
          "endIntronOffset": 34188,
          "referenceAllele": "C",
          "start": 708,
          "startIntronDirection": "-",
          "startIntronOffset": 34189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001330368.2:c.641-34189C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317297.1:n.641-34189C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "endIntronDirection": "-",
          "endIntronOffset": 7967,
          "referenceAllele": "C",
          "start": 762,
          "startIntronDirection": "-",
          "startIntronOffset": 7968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001351110.2:c.695-7968C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338039.1:n.695-7968C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916034727",
      "coordinates": [
        {
          "allele": "A",
          "end": 8545,
          "referenceAllele": "G",
          "start": 8544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Trp2769Ter",
        "hgvsWellDefined": "NP_001338763.1:p.Trp2769_Val3056delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA334796",
      "coordinates": [
        {
          "allele": "A",
          "end": 8457,
          "referenceAllele": "G",
          "start": 8456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.8307G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Trp2769Ter",
        "hgvsWellDefined": "NP_000042.3:p.Trp2769_Val3056delinsCysThrGlyThrValProIleGlyGluPheLeuValAsnAsnGluAspGlyAlaHisLysArgTyrArgProAsnAspPheSerAlaPheGlnCysGlnLysLysMetMetGluValGlnLysLysSerPheGluGluLysTyrGluValPheMetAspValCysGlnAsnPheGlnProValPheArgTyrPheCysMetGluLysPheLeuAspProAlaIleTrpPheGluLysArgLeuAlaTyrThrArgSerValAlaThrSerSerIleValGlyTyrIleLeuGlyLeuGlyAspArgHisValGlnAsnIleLeuIleAsnGluGlnSerAlaGluLeuValHisIleAspLeuGlyValAlaPheGluGlnGlyLysIleLeuProThrProGluThrValProPheArgLeuThrArgAspIleValAspGlyMetGlyIleThrGlyValGluGlyValPheArgArgCysCysGluLysThrMetGluValMetArgAsnSerGlnGluThrLeuLeuThrIleValGluValLeuLeuTyrAspProLeuPheAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAspGluThrGluLeuHisProThrLeuAsnAlaAspAspGlnGluCysLysArgAsnLeuSerAspIleAspGlnSerPheAsnLysValAlaGluArgValLeuMetArgLeuGlnGluLysLeuLysGlyValGluGluGlyThrValLeuSerValGlyGlyGlnValAsnLeuLeuIleGlnGlnAlaIleAspProLysAsnLeuSerArgLeuPheProGlyTrpLysAlaTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.8307G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.8307G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Trp2769Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Trp2769Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2299,
          "endIntronDirection": "-",
          "endIntronOffset": 7967,
          "referenceAllele": "C",
          "start": 2299,
          "startIntronDirection": "-",
          "startIntronOffset": 7968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NR_147053.3:n.2300-7968C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731368"
    }
  ],
  "type": "nucleotide"
}