{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA633480489",
  "communityStandardTitle": [
    "NM_000400.4(ERCC2):c.1749_1751dup (p.Tyr584Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.45856506_45856507insTAC?assembly=hg19",
        "id": "chr19:g.45856506_45856507insTAC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.45353248_45353249insTAC?assembly=hg38",
        "id": "chr19:g.45353248_45353249insTAC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1246376622",
        "rs": 1246376622
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-45856506-G-GTAC?dataset=gnomad_r2_1",
        "id": "19-45856506-G-GTAC",
        "variant": "19:45856506 G / GTAC"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-45353248-G-GTAC?dataset=gnomad_r3",
        "id": "19-45353248-G-GTAC",
        "variant": "19:45353248 G / GTAC"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-45353248-G-GTAC?dataset=gnomad_r4",
        "id": "19-45353248-G-GTAC",
        "variant": "19:45353248 G / GTAC"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "ACT",
          "end": 45353252,
          "referenceAllele": "",
          "start": 45353252
        }
      ],
      "hgvs": [
        "NC_000019.10:g.45353250_45353252dup",
        "CM000681.2:g.45353250_45353252dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "ACT",
          "end": 45856510,
          "referenceAllele": "",
          "start": 45856510
        }
      ],
      "hgvs": [
        "NC_000019.9:g.45856508_45856510dup",
        "CM000681.1:g.45856508_45856510dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "ACT",
          "end": 50548350,
          "referenceAllele": "",
          "start": 50548350
        }
      ],
      "hgvs": [
        "NC_000019.8:g.50548348_50548350dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 22339,
          "referenceAllele": "",
          "start": 22339
        }
      ],
      "hgvs": [
        "NG_007067.2:g.22337_22339dup",
        "LRG_461:g.22337_22339dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000447"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1799,
          "referenceAllele": "",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391944.8:c.1749_1751dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375808.4:p.Tyr584Ter",
        "hgvsWellDefined": "ENSP00000375808.4:p.Tyr584_Pro829delinsGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgValArgProAlaSerProSerArgHisProProArgLeuSerPheSerSerArgLysSerProTrpIleLeuProThrProHisProGlnProAlaCysProProAlaLeuSerLysGluLysPheIleValHisLeuArgAlaArgLeuTrpGlyGluGlyGlyAspSerArgGlyHisArgCysGlnGlnValAlaGlnAlaArgGlnGlyGluArgSerTrpGlyGluGluAlaLeuGlyValPheArgArgAspGlyAlaGlyLeuGluLysAlaGlyProSerProThrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824443"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1799,
          "referenceAllele": "",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000682414.1:c.1749_1751dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507019.1:p.Tyr584Ter",
        "hgvsWellDefined": "ENSP00000507019.1:p.Tyr584_Leu760delinsGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827406"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1780,
          "referenceAllele": "",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000682508.1:n.1778_1780dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827498"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1675,
          "referenceAllele": "",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684218.1:c.*1007_*1009dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507804.1:n.*1007_*1009dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829175"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1307,
          "referenceAllele": "",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684264.1:n.1305_1307dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829221"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1699,
          "referenceAllele": "",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684407.1:c.1626_1628dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507775.1:p.Tyr543Ter",
        "hgvsWellDefined": "ENSP00000507775.1:p.Tyr543_Leu719delinsGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829362"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1665,
          "referenceAllele": "",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684458.1:c.*235_*237dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508260.1:n.*235_*237dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829412"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1463,
          "referenceAllele": "",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684468.1:n.1461_1463dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829422"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1784,
          "referenceAllele": "",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391945.10:c.1749_1751dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375809.4:p.Tyr584Ter",
        "hgvsWellDefined": "ENSP00000375809.4:p.Tyr584_Leu760delinsGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752942",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.1749_1751dup"
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.1749_1751dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:p.Tyr584Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:p.Tyr584Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 810,
          "referenceAllele": "",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000587376.6:c.808_810dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761078"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1848,
          "referenceAllele": "",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000646507.1:n.1846_1848dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768913"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 2432,
          "referenceAllele": "",
          "start": 2432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391941.6:c.1677_1679dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375805.2:p.Tyr560Ter",
        "hgvsWellDefined": "ENSP00000375805.2:p.Tyr560_Arg706del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274831"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 922,
          "referenceAllele": "",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391942.6:n.920_922dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274832"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1564,
          "referenceAllele": "",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391944.7:c.1515_1517dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375808.3:p.Tyr506Ter",
        "hgvsWellDefined": "ENSP00000375808.3:p.Tyr506_Leu682delinsGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274833"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1829,
          "referenceAllele": "",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391945.8:c.1749_1751dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375809.3:p.Tyr584Ter",
        "hgvsWellDefined": "ENSP00000375809.3:p.Tyr584_Leu760delinsGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274834"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 810,
          "referenceAllele": "",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000587376.5:c.808_810dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390034"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1839,
          "referenceAllele": "",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000588652.5:n.1837_1839dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741814634",
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1798,
          "referenceAllele": "",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.3:c.1749_1751dup",
        "LRG_461t1:c.1749_1751dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000391.1:p.Tyr584Ter",
        "hgvsWellDefined": "NP_000391.1:p.Tyr584_Leu760delinsGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006461"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1779,
          "referenceAllele": "",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_011526611.1:c.1671_1673dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524913.1:p.Tyr558Ter",
        "hgvsWellDefined": "XP_011524913.1:p.Tyr558_Leu734delinsGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093713"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1734,
          "referenceAllele": "",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_935763.1:n.1732_1734dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131004"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1780,
          "referenceAllele": "",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_011526611.2:c.1671_1673dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524913.1:p.Tyr558Ter",
        "hgvsWellDefined": "XP_011524913.1:p.Tyr558_Leu734delinsGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548334"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1694,
          "referenceAllele": "",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_017026467.1:c.1626_1628dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881956.1:p.Tyr543Ter",
        "hgvsWellDefined": "XP_016881956.1:p.Tyr543_Leu719delinsGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576612"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1798,
          "referenceAllele": "",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753633.2:n.1796_1798dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600116"
    },
    {
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1734,
          "referenceAllele": "",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753634.2:n.1732_1734dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741814634",
      "coordinates": [
        {
          "allele": "TAG",
          "end": 1784,
          "referenceAllele": "",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.4:c.1749_1751dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000391.1:p.Tyr584Ter",
        "hgvsWellDefined": "NP_000391.1:p.Tyr584_Leu760delinsGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674827",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.1749_1751dup"
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.1749_1751dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:p.Tyr584Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:p.Tyr584Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}