{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA196179",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=183209[alleleid]",
        "alleleId": 183209,
        "preferredName": "NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/186898",
        "RCV": [
          "RCV000166556",
          "RCV000410598",
          "RCV003462218"
        ],
        "variationId": 186898
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108139287T>G?assembly=hg19",
        "id": "chr11:g.108139287T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108268560T>G?assembly=hg38",
        "id": "chr11:g.108268560T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786203309",
        "rs": 786203309
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108268560-T-G?dataset=gnomad_r4",
        "id": "11-108268560-T-G",
        "variant": "11:108268560 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 108268560,
          "referenceAllele": "T",
          "start": 108268559
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108268560T>G",
        "CM000673.2:g.108268560T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 108139287,
          "referenceAllele": "T",
          "start": 108139286
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108139287T>G",
        "CM000673.1:g.108139287T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 107644497,
          "referenceAllele": "T",
          "start": 107644496
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107644497T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 50729,
          "referenceAllele": "T",
          "start": 50728
        }
      ],
      "hgvs": [
        "NG_009830.1:g.50729T>G",
        "LRG_135:g.50729T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3271,
          "referenceAllele": "T",
          "start": 3270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2917,
          "referenceAllele": "T",
          "start": 2916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.*2260T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:n.*2260T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3095,
          "referenceAllele": "T",
          "start": 3094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2772,
          "endIntronDirection": "+",
          "endIntronOffset": 1218,
          "referenceAllele": "T",
          "start": 2772,
          "startIntronDirection": "+",
          "startIntronOffset": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682516.1:n.2772+1218T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827506"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2939,
          "referenceAllele": "T",
          "start": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.2939T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2781,
          "endIntronDirection": "+",
          "endIntronOffset": 1218,
          "referenceAllele": "T",
          "start": 2781,
          "startIntronDirection": "+",
          "startIntronOffset": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684037.1:c.*1573+1218T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508245.1:n.*1573+1218T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828998"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2938,
          "referenceAllele": "T",
          "start": 2937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:p.Leu930Ter",
        "hgvsWellDefined": "ENSP00000435747.2:p.Leu930_Trp1545delinsIleAspSerSerThrLeuGluProThrLysSerLeuHisLeuHisMetTyrLeuMetLeuLeuLysGluLeuProGlyGluGluTyrProLeuProMetGluAspValLeuGluLeuLeuLysProLeuSerAsnValCysSerLeuTyrArgArgAspGlnAspValCysLysThrIleLeuAsnHisValLeuHisValValLysAsnLeuGlyGlnSerAsnMetAspSerGluAsnThrArgAspAlaGlnGlyGlnPheLeuThrValIleGlyAlaPheTrpHisLeuThrLysGluArgLysTyrIlePheSerValArgMetAlaLeuValAsnCysLeuLysThrLeuLeuGluAlaAspProTyrSerLysTrpAlaIleLeuAsnValMetGlyLysAspPheProValAsnGluValPheThrGlnPheLeuAlaAspAsnHisHisGlnValArgMetLeuAlaAlaGluSerIleAsnArgLeuPheGlnAspThrLysGlyAspSerSerArgLeuLeuLysAlaLeuProLeuLysLeuGlnGlnThrAlaPheGluAsnAlaTyrLeuLysAlaGlnGluGlyMetArgGluMetSerHisSerAlaGluAsnProGluThrLeuAspGluIleTyrAsnArgLysSerValLeuLeuThrLeuIleAlaValValLeuSerCysSerProIleCysGluLysGlnAlaLeuPheAlaLeuCysLysSerValLysGluAsnGlyLeuGluProHisLeuValLysLysValLeuGluLysValSerGluThrPheGlyTyrArgArgLeuGluAspPheMetAlaSerHisLeuAspTyrLeuValLeuGluTrpLeuAsnLeuGlnAspThrGluTyrAsnLeuSerSerPheProPheIleLeuLeuAsnTyrThrAsnIleGluAspPheTyrArgSerCysTyrLysValLeuIleProHisLeuValIleArgSerHisPheAspGluValLysSerIleAlaAsnGlnIleGlnGluAspTrpLysSerLeuLeuThrAspCysPheProLysIleLeuValAsnIleLeuProTyrPheAlaTyrGluGlyThrArgAspSerGlyMetAlaGlnGlnArgGluThrAlaThrLysValTyrAspMetLeuLysSerGluAsnLeuLeuGlyLysGlnIleAspHisLeuPheIleSerAsnLeuProGluIleValValGluLeuLeuMetThrLeuHisGluProAlaAsnSerSerAlaSerGlnSerThrAspLeuCysAspPheSerGlyAspLeuAspProAlaProAsnProProHisPheProSerHisValIleLysAlaThrPheAlaTyrIleSerAsnCysHisLysThrLysLeuLysSerIleLeuGluIleLeuSerLysSerProAspSerTyrGlnLysIleLeuLeuAlaIleCysGluGlnAlaAlaGluThrAsnAsnValTyrLysLysHisArgIleLeuLysIleTyrHisLeuPheValSerLeuLeuLeuLysAspIleLysSerGlyLeuGlyGlyAlaTrpAlaPheValLeuArgAspValIleTyrThrLeuIleHisTyrIleAsnGlnArgProSerCysIleMetAspValSerLeuArgSerPheSerLeuCysCysAspLeuLeuSerGlnValCysGlnThrAlaValThrTyrCysLysAspAlaLeuGluAsnHisLeuHisValIleValGlyThrLeuIleProLeuValTyrGluGlnValGluValGlnLysGlnIleIleArgLysMetGlyLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2756,
          "referenceAllele": "T",
          "start": 2755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.2624T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:p.Leu875Ter",
        "hgvsWellDefined": "ENSP00000502563.1:p.Leu875_Trp1545delinsIleAspSerSerThrLeuGluProThrLysSerLeuHisLeuHisMetTyrLeuMetLeuLeuLysGluLeuProGlyGluGluTyrProLeuProMetGluAspValLeuGluLeuLeuLysProLeuSerAsnValCysSerLeuTyrArgArgAspGlnAspValCysLysThrIleLeuAsnHisValLeuHisValValLysAsnLeuGlyGlnSerAsnMetAspSerGluAsnThrArgAspAlaGlnGlyGlnPheLeuThrValIleGlyAlaPheTrpHisLeuThrLysGluArgLysTyrIlePheSerValArgMetAlaLeuValAsnCysLeuLysThrLeuLeuGluAlaAspProTyrSerLysTrpAlaIleLeuAsnValMetGlyLysAspPheProValAsnGluValPheThrGlnPheLeuAlaAspAsnHisHisGlnValArgMetLeuAlaAlaGluSerIleAsnArgLeuPheGlnAspThrLysGlyAspSerSerArgLeuLeuLysAlaLeuProLeuLysLeuGlnGlnThrAlaPheGluAsnAlaTyrLeuLysAlaGlnGluGlyMetArgGluMetSerHisSerAlaGluAsnProGluThrLeuAspGluIleTyrAsnArgLysSerValLeuLeuThrLeuIleAlaValValLeuSerCysSerProIleCysGluLysGlnAlaLeuPheAlaLeuCysLysSerValLysGluAsnGlyLeuGluProHisLeuValLysLysValLeuGluLysValSerGluThrPheGlyTyrArgArgLeuGluAspPheMetAlaSerHisLeuAspTyrLeuValLeuGluTrpLeuAsnLeuGlnAspThrGluTyrAsnLeuSerSerPheProPheIleLeuLeuAsnTyrThrAsnIleGluAspPheTyrArgSerCysTyrLysValLeuIleProHisLeuValIleArgSerHisPheAspGluValLysSerIleAlaAsnGlnIleGlnGluAspTrpLysSerLeuLeuThrAspCysPheProLysIleLeuValAsnIleLeuProTyrPheAlaTyrGluGlyThrArgAspSerGlyMetAlaGlnGlnArgGluThrAlaThrLysValTyrAspMetLeuLysSerGluAsnLeuLeuGlyLysGlnIleAspHisLeuPheIleSerAsnLeuProGluIleValValGluLeuLeuMetThrLeuHisGluProAlaAsnSerSerAlaSerGlnSerThrAspLeuCysAspPheSerGlyAspLeuAspProAlaProAsnProProHisPheProSerHisValIleLysAlaThrPheAlaTyrIleSerAsnCysHisLysThrLysLeuLysSerIleLeuGluIleLeuSerLysSerProAspSerTyrGlnLysIleLeuLeuAlaIleCysGluGlnAlaAlaGluThrAsnAsnValTyrLysLysHisArgIleLeuLysIleTyrHisLeuPheValSerLeuLeuLeuLysAspIleLysSerGlyLeuGlyGlyAlaTrpAlaPheValLeuArgAspValIleTyrThrLeuIleHisTyrIleAsnGlnArgProSerCysIleMetAspValSerLeuArgSerPheSerLeuCysCysAspLeuLeuSerGlnValCysGlnThrAlaValThrTyrCysLysAspAlaLeuGluAsnHisLeuHisValIleValGlyThrLeuIleProLeuValTyrGluGlnValGluValGlnLysGlnValLeuAspLeuLeuLysTyrLeuValIleAspAsnLysAspAsnGluAsnLeuTyrIleThrIleLysLeuLeuAspProPheProAspHisValValPheLysAspLeuArgIleThrGlnGlnLysIleLysTyrSerArgGlyProPheSerLeuLeuGluIleIleArgLysMetGlyLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2939,
          "referenceAllele": "T",
          "start": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.2789T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.2789T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Leu930Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Leu930Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3174,
          "referenceAllele": "T",
          "start": 3173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 151,
          "referenceAllele": "T",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000419286.2:n.151T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS285812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2978,
          "referenceAllele": "T",
          "start": 2977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3522,
          "referenceAllele": "T",
          "start": 3521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.5:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.1:p.Leu930Ter",
        "hgvsWellDefined": "ENSP00000435747.1:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3174,
          "referenceAllele": "T",
          "start": 3173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.2789T>G",
        "LRG_135t1:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2997,
          "referenceAllele": "T",
          "start": 2996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3306,
          "referenceAllele": "T",
          "start": 3305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2929,
          "referenceAllele": "T",
          "start": 2928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3017,
          "referenceAllele": "T",
          "start": 3016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3700,
          "referenceAllele": "T",
          "start": 3699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2744,
          "referenceAllele": "T",
          "start": 2743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.2624T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Leu875Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3506,
          "referenceAllele": "T",
          "start": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2290,
          "referenceAllele": "T",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.1:c.1745T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Leu582Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109773"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1637,
          "referenceAllele": "T",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.1:c.1481T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Leu494Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3506,
          "referenceAllele": "T",
          "start": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542846.1:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541148.1:p.Leu930Ter",
        "hgvsWellDefined": "XP_011541148.1:p.Leu930_Ile1780delinsIleAspSerSerThrLeuGluProThrLysSerLeuHisLeuHisMetTyrLeuMetLeuLeuLysGluLeuProGlyGluGluTyrProLeuProMetGluAspValLeuGluLeuLeuLysProLeuSerAsnValCysSerLeuTyrArgArgAspGlnAspValCysLysThrIleLeuAsnHisValLeuHisValValLysAsnLeuGlyGlnSerAsnMetAspSerGluAsnThrArgAspAlaGlnGlyGlnPheLeuThrValIleGlyAlaPheTrpHisLeuThrLysGluArgLysTyrIlePheSerValArgMetAlaLeuValAsnCysLeuLysThrLeuLeuGluAlaAspProTyrSerLysTrpAlaIleLeuAsnValMetGlyLysAspPheProValAsnGluValPheThrGlnPheLeuAlaAspAsnHisHisGlnValArgMetLeuAlaAlaGluSerIleAsnArgLeuPheGlnAspThrLysGlyAspSerSerArgLeuLeuLysAlaLeuProLeuLysLeuGlnGlnThrAlaPheGluAsnAlaTyrLeuLysAlaGlnGluGlyMetArgGluMetSerHisSerAlaGluAsnProGluThrLeuAspGluIleTyrAsnArgLysSerValLeuLeuThrLeuIleAlaValValLeuSerCysSerProIleCysGluLysGlnAlaLeuPheAlaLeuCysLysSerValLysGluAsnGlyLeuGluProHisLeuValLysLysValLeuGluLysValSerGluThrPheGlyTyrArgArgLeuGluAspPheMetAlaSerHisLeuAspTyrLeuValLeuGluTrpLeuAsnLeuGlnAspThrGluTyrAsnLeuSerSerPheProPheIleLeuLeuAsnTyrThrAsnIleGluAspPheTyrArgSerCysTyrLysValLeuIleProHisLeuValIleArgSerHisPheAspGluValLysSerIleAlaAsnGlnIleGlnGluAspTrpLysSerLeuLeuThrAspCysPheProLysIleLeuValAsnIleLeuProTyrPheAlaTyrGluGlyThrArgAspSerGlyMetAlaGlnGlnArgGluThrAlaThrLysValTyrAspMetLeuLysSerGluAsnLeuLeuGlyLysGlnIleAspHisLeuPheIleSerAsnLeuProGluIleValValGluLeuLeuMetThrLeuHisGluProAlaAsnSerSerAlaSerGlnSerThrAspLeuCysAspPheSerGlyAspLeuAspProAlaProAsnProProHisPheProSerHisValIleLysAlaThrPheAlaTyrIleSerAsnCysHisLysThrLysLeuLysSerIleLeuGluIleLeuSerLysSerProAspSerTyrGlnLysIleLeuLeuAlaIleCysGluGlnAlaAlaGluThrAsnAsnValTyrLysLysHisArgIleLeuLysIleTyrHisLeuPheValSerLeuLeuLeuLysAspIleLysSerGlyLeuGlyGlyAlaTrpAlaPheValLeuArgAspValIleTyrThrLeuIleHisTyrIleAsnGlnArgProSerCysIleMetAspValSerLeuArgSerPheSerLeuCysCysAspLeuLeuSerGlnValCysGlnThrAlaValThrTyrCysLysAspAlaLeuGluAsnHisLeuHisValIleValGlyThrLeuIleProLeuValTyrGluGlnValGluValGlnLysGlnValLeuAspLeuLeuLysTyrLeuValIleAspAsnLysAspAsnGluAsnLeuTyrIleThrIleLysLeuLeuAspProPheProAspHisValValPheLysAspLeuArgIleThrGlnGlnLysIleLysTyrSerArgGlyProPheSerLeuLeuGluGluIleAsnHisPheLeuSerValSerValTyrAspAlaLeuProLeuThrArgLeuGluGlyLeuLysAspLeuArgArgGlnLeuGluLeuHisLysAspGlnMetValAspIleMetArgAlaSerGlnAspAsnProGlnAspGlyIleMetValLysLeuValValAsnLeuLeuGlnLeuSerLysMetAlaIleAsnHisThrGlyGluLysGluValLeuGluAlaValGlySerCysLeuGlyGluValGlyProIleAspPheSerThrIleAlaIleGlnHisSerLysAspAlaSerTyrThrLysAlaLeuLysLeuPheGluAspLysGluLeuGlnTrpThrPheIleMetLeuThrTyrLeuAsnAsnThrLeuValGluAspCysValLysValArgSerAlaAlaValThrCysLeuLysAsnIleLeuAlaThrLysThrGlyHisSerPheTrpGluIleTyrLysMetThrThrAspProMetLeuAlaTyrLeuGlnProPheArgThrSerArgLysLysValPheArgSerThrGlnIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109775"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3262,
          "referenceAllele": "T",
          "start": 3261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3308,
          "referenceAllele": "T",
          "start": 3307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2941,
          "referenceAllele": "T",
          "start": 2940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3029,
          "referenceAllele": "T",
          "start": 3028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3004,
          "referenceAllele": "T",
          "start": 3003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.2624T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Leu875Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3522,
          "referenceAllele": "T",
          "start": 3521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3125,
          "referenceAllele": "T",
          "start": 3124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.1745T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Leu582Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1637,
          "referenceAllele": "T",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.2:c.1481T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Leu494Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554954"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3732,
          "referenceAllele": "T",
          "start": 3731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3129,
          "referenceAllele": "T",
          "start": 3128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3522,
          "referenceAllele": "T",
          "start": 3521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017791.1:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873280.1:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569899"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3522,
          "referenceAllele": "T",
          "start": 3521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017792.2:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873281.1:p.Leu930Ter",
        "hgvsWellDefined": "XP_016873281.1:p.Leu930_Ser1775delinsIleAspSerSerThrLeuGluProThrLysSerLeuHisLeuHisMetTyrLeuMetLeuLeuLysGluLeuProGlyGluGluTyrProLeuProMetGluAspValLeuGluLeuLeuLysProLeuSerAsnValCysSerLeuTyrArgArgAspGlnAspValCysLysThrIleLeuAsnHisValLeuHisValValLysAsnLeuGlyGlnSerAsnMetAspSerGluAsnThrArgAspAlaGlnGlyGlnPheLeuThrValIleGlyAlaPheTrpHisLeuThrLysGluArgLysTyrIlePheSerValArgMetAlaLeuValAsnCysLeuLysThrLeuLeuGluAlaAspProTyrSerLysTrpAlaIleLeuAsnValMetGlyLysAspPheProValAsnGluValPheThrGlnPheLeuAlaAspAsnHisHisGlnValArgMetLeuAlaAlaGluSerIleAsnArgLeuPheGlnAspThrLysGlyAspSerSerArgLeuLeuLysAlaLeuProLeuLysLeuGlnGlnThrAlaPheGluAsnAlaTyrLeuLysAlaGlnGluGlyMetArgGluMetSerHisSerAlaGluAsnProGluThrLeuAspGluIleTyrAsnArgLysSerValLeuLeuThrLeuIleAlaValValLeuSerCysSerProIleCysGluLysGlnAlaLeuPheAlaLeuCysLysSerValLysGluAsnGlyLeuGluProHisLeuValLysLysValLeuGluLysValSerGluThrPheGlyTyrArgArgLeuGluAspPheMetAlaSerHisLeuAspTyrLeuValLeuGluTrpLeuAsnLeuGlnAspThrGluTyrAsnLeuSerSerPheProPheIleLeuLeuAsnTyrThrAsnIleGluAspPheTyrArgSerCysTyrLysValLeuIleProHisLeuValIleArgSerHisPheAspGluValLysSerIleAlaAsnGlnIleGlnGluAspTrpLysSerLeuLeuThrAspCysPheProLysIleLeuValAsnIleLeuProTyrPheAlaTyrGluGlyThrArgAspSerGlyMetAlaGlnGlnArgGluThrAlaThrLysValTyrAspMetLeuLysSerGluAsnLeuLeuGlyLysGlnIleAspHisLeuPheIleSerAsnLeuProGluIleValValGluLeuLeuMetThrLeuHisGluProAlaAsnSerSerAlaSerGlnSerThrAspLeuCysAspPheSerGlyAspLeuAspProAlaProAsnProProHisPheProSerHisValIleLysAlaThrPheAlaTyrIleSerAsnCysHisLysThrLysLeuLysSerIleLeuGluIleLeuSerLysSerProAspSerTyrGlnLysIleLeuLeuAlaIleCysGluGlnAlaAlaGluThrAsnAsnValTyrLysLysHisArgIleLeuLysIleTyrHisLeuPheValSerLeuLeuLeuLysAspIleLysSerGlyLeuGlyGlyAlaTrpAlaPheValLeuArgAspValIleTyrThrLeuIleHisTyrIleAsnGlnArgProSerCysIleMetAspValSerLeuArgSerPheSerLeuCysCysAspLeuLeuSerGlnValCysGlnThrAlaValThrTyrCysLysAspAlaLeuGluAsnHisLeuHisValIleValGlyThrLeuIleProLeuValTyrGluGlnValGluValGlnLysGlnValLeuAspLeuLeuLysTyrLeuValIleAspAsnLysAspAsnGluAsnLeuTyrIleThrIleLysLeuLeuAspProPheProAspHisValValPheLysAspLeuArgIleThrGlnGlnLysIleLysTyrSerArgGlyProPheSerLeuLeuGluGluIleAsnHisPheLeuSerValSerValTyrAspAlaLeuProLeuThrArgLeuGluGlyLeuLysAspLeuArgArgGlnLeuGluLeuHisLysAspGlnMetValAspIleMetArgAlaSerGlnAspAsnProGlnAspGlyIleMetValLysLeuValValAsnLeuLeuGlnLeuSerLysMetAlaIleAsnHisThrGlyGluLysGluValLeuGluAlaValGlySerCysLeuGlyGluValGlyProIleAspPheSerThrIleAlaIleGlnHisSerLysAspAlaSerTyrThrLysAlaLeuLysLeuPheGluAspLysGluLeuGlnTrpThrPheIleMetLeuThrTyrLeuAsnAsnThrLeuValGluAspCysValLysValArgSerAlaAlaValThrCysLeuLysAsnIleLeuAlaThrLysThrGlyHisSerPheTrpGluIleTyrLysMetThrThrAspProMetLeuAlaTyrLeuGlnProPheArgThrSerArgLysLysValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3522,
          "referenceAllele": "T",
          "start": 3521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XR_002957150.1:n.3522T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603286"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3027,
          "referenceAllele": "T",
          "start": 3026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2939,
          "referenceAllele": "T",
          "start": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.2789T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Leu930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.2789T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.2789T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Leu930Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Leu930Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}