{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA359847378",
  "communityStandardTitle": [
    "NM_005869.4(CWC27):c.617C>G (p.Ser206Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.64084795C>G?assembly=hg19",
        "id": "chr5:g.64084795C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.64788968C>G?assembly=hg38",
        "id": "chr5:g.64788968C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/781702398",
        "rs": 781702398
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-64788968-C-G?dataset=gnomad_r4",
        "id": "5-64788968-C-G",
        "variant": "5:64788968 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 64788968,
          "referenceAllele": "C",
          "start": 64788967
        }
      ],
      "hgvs": [
        "NC_000005.10:g.64788968C>G",
        "CM000667.2:g.64788968C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 64084795,
          "referenceAllele": "C",
          "start": 64084794
        }
      ],
      "hgvs": [
        "NC_000005.9:g.64084795C>G",
        "CM000667.1:g.64084795C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 64120551,
          "referenceAllele": "C",
          "start": 64120550
        }
      ],
      "hgvs": [
        "NC_000005.8:g.64120551C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 934,
          "referenceAllele": "C",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000485990.2:n.934C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 122,
          "referenceAllele": "C",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000506168.2:c.122C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510592.1:p.Ser41Ter",
        "hgvsWellDefined": "ENSP00000510592.1:p.Ser41_Arg148delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000508024.2:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426802.1:p.Ser206Ter",
        "hgvsWellDefined": "ENSP00000426802.1:p.Ser206_Lys381delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerProProSerLeuCysLeuTyrLeuAspTyrTrpIleGlnLeuSerArgIleThrGlnAlaTyrThrSerTrpTyrTyrTyrGlyPheLeuAspSerSerLeuSerCysValSerSerAlaSerLeuLeuLeuThrArgHisAsnValTyrPheThrLeuGlnThrHisSerThrAspHisLeuAlaAlaCysPhePheMetLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 653,
          "referenceAllele": "C",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000607786.2:c.317C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509647.1:p.Ser106Ter",
        "hgvsWellDefined": "ENSP00000509647.1:p.Ser106_Arg372delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerGluGluLeuArgLysGluAlaArgGlnLeuLysArgGluLeuLeuAlaAlaLysGlnLysLysValGluAsnAlaAlaLysGlnAlaGluLysArgSerGluGluGluGluAlaProProAspGlyAlaValAlaGluTyrArgArgGluLysGlnLysTyrGluAlaLeuArgLysGlnGlnSerLysLysGlyThrSerArgGluAspGlnThrLeuAlaLeuLeuAsnGlnPheLysSerLysLeuThrGlnAlaIleAlaGluThrProGluAsnAspIleProGluThrGluValGluAspAspGluGlyTrpMetSerHisValLeuGlnPheGluAspLysSerArgLysValLysAspAlaSerMetGlnAspSerAspThrPheGluIleTyrAspProArgAsnProValAsnLysArgArgArgGluGluSerLysLysLeuMetArgGluLysLysGluArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826379"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000685023.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508985.1:p.Ser206Ter",
        "hgvsWellDefined": "ENSP00000508985.1:p.Ser206_Lys333delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgArgLysLeuLeuCysLeuThrLeuGluProSerLeuGlnProGlyProThrAlaAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829848"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 777,
          "referenceAllele": "C",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000686041.1:n.777C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830371"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000687314.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510578.1:p.Ser206Ter",
        "hgvsWellDefined": "ENSP00000510578.1:p.Ser206_Gly418delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerGluGluLeuArgLysGluAlaArgGlnLeuLysArgGluLeuLeuAlaAlaLysGlnLysLysValGluAsnAlaAlaLysGlnAlaGluLysArgSerGluGluGluGluAlaProProAspGlyAlaValAlaGluTyrArgArgGluLysGlnLysTyrGluAlaLeuArgLysGlnGlnSerLysLysGlyThrSerArgGluAspGlnThrLeuAlaLeuLeuAsnGlnPheLysSerLysLeuThrGlnAlaIleAlaGluThrProGluAsnAspIleProGluThrGluValGluAspAspGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000688107.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510268.1:p.Ser206Ter",
        "hgvsWellDefined": "ENSP00000510268.1:p.Ser206_Ser315delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgArgLysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831445"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000688318.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508653.1:p.Ser206Ter",
        "hgvsWellDefined": "ENSP00000508653.1:p.Ser206_Ser426delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerGluGluLeuArgLysGluAlaArgGlnLeuLysArgGluLeuLeuAlaAlaLysGlnLysLysValGluAsnAlaAlaLysGlnAlaGluLysArgSerGluGluGluGluAlaProProAspGlyAlaValAlaGluTyrArgArgGluLysGlnLysTyrGluAlaLeuArgLysGlnGlnSerLysLysGlyThrSerArgGluAspGlnThrLeuAlaLeuLeuAsnGlnPheLysSerLysLeuThrGlnAlaIleAlaGluThrProGluAsnAspIleProGluThrGluValGluAspAspGluGlyTrpMetLysThrAlaLeuLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831561"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000688896.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510604.1:p.Ser206Ter",
        "hgvsWellDefined": "ENSP00000510604.1:p.Ser206_Ser328delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgArgTrpArgTrpGlyPheAlaMetLeuProLysLeuValSerAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831875"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 818,
          "referenceAllele": "C",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000689534.1:n.818C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832225"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 830,
          "referenceAllele": "C",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000689574.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510176.1:p.Ser206Ter",
        "hgvsWellDefined": "ENSP00000510176.1:p.Ser206_Tyr359delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgArgAlaArgLysAlaProGlnArgLysLysGlyAsnThrThrSerArgAspLysSerArgThrHisLeuLeuSerIlePheValValPheGlyGlyGlyAlaValValValValValValValTyrIleSerPheArgTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832247"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000691921.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509657.1:p.Ser206Ter",
        "hgvsWellDefined": "ENSP00000509657.1:p.Ser206_Val391delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerGluGluLeuArgLysGluAlaArgGlnLeuLysArgGluLeuLeuAlaAlaLysGlnLysLysValGluAsnAlaAlaLysGlnAlaGluLysArgSerGluGluGluGluAlaProProAspGlyAlaValAlaGluTyrArgArgGluLysGlnLysTyrGluAlaLeuArgLysGlnGlnSerLysLysGlyThrSerArgGluAspGlnAspValThrCysThrSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833450"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "referenceAllele": "C",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000692005.1:c.518C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509199.1:p.Ser173Ter",
        "hgvsWellDefined": "ENSP00000509199.1:p.Ser173_Val358delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerGluGluLeuArgLysGluAlaArgGlnLeuLysArgGluLeuLeuAlaAlaLysGlnLysLysValGluAsnAlaAlaLysGlnAlaGluLysArgSerGluGluGluGluAlaProProAspGlyAlaValAlaGluTyrArgArgGluLysGlnLysTyrGluAlaLeuArgLysGlnGlnSerLysLysGlyThrSerArgGluAspGlnAspValThrCysThrSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000692660.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510173.1:p.Ser206Ter",
        "hgvsWellDefined": "ENSP00000510173.1:p.Ser206_Glu348delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerCysGlySerAlaProHisHisLeuHisSerArgProGlyMetLysGluGlnLeuLeuSerGluMetCysTyrSerHisGlyArgArgLysArgValMetLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 820,
          "referenceAllele": "C",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000692763.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510726.1:p.Ser206Ter",
        "hgvsWellDefined": "ENSP00000510726.1:p.Ser206_Cys354delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerGluGluLeuArgLysGluAlaArgGlnLeuLysArgGluLeuLeuAlaAlaLysGlnLysLysValGluAsnAlaAlaLysGlnAlaGluLysArgSerGluAspGlyIleSerProCysCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833871"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 818,
          "referenceAllele": "C",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000693121.1:n.818C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000693303.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508557.1:p.Ser206Ter",
        "hgvsWellDefined": "ENSP00000508557.1:p.Ser206_Ile392delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerGluGluLeuArgLysGluAlaArgGlnLeuLysArgGluLeuLeuAlaAlaLysGlnLysLysValGluAsnAlaAlaLysGlnAlaGluLysArgSerGluGluGluGluAlaProProAspGlyAlaValAlaGluTyrArgArgGluLysGlnLysTyrGluAlaLeuArgLysGlnGlnSerLysLysGlyThrSerArgGluAspGlnSerGluGlnProThrMetTrpIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 840,
          "referenceAllele": "C",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000693640.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509061.1:p.Ser206Ter",
        "hgvsWellDefined": "ENSP00000509061.1:p.Ser206_Val325delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgArgIleSerLeuCysPheProSerArgAsnAlaValValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000693660.1:c.518C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509052.1:p.Ser173Ter",
        "hgvsWellDefined": "ENSP00000509052.1:p.Ser173_Arg439delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerGluGluLeuArgLysGluAlaArgGlnLeuLysArgGluLeuLeuAlaAlaLysGlnLysLysValGluAsnAlaAlaLysGlnAlaGluLysArgSerGluGluGluGluAlaProProAspGlyAlaValAlaGluTyrArgArgGluLysGlnLysTyrGluAlaLeuArgLysGlnGlnSerLysLysGlyThrSerArgGluAspGlnThrLeuAlaLeuLeuAsnGlnPheLysSerLysLeuThrGlnAlaIleAlaGluThrProGluAsnAspIleProGluThrGluValGluAspAspGluGlyTrpMetSerHisValLeuGlnPheGluAspLysSerArgLysValLysAspAlaSerMetGlnAspSerAspThrPheGluIleTyrAspProArgAsnProValAsnLysArgArgArgGluGluSerLysLysLeuMetArgGluLysLysGluArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834359"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000381070.8:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370460.2:p.Ser206Ter",
        "hgvsWellDefined": "ENSP00000370460.2:p.Ser206_Arg472delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerGluGluLeuArgLysGluAlaArgGlnLeuLysArgGluLeuLeuAlaAlaLysGlnLysLysValGluAsnAlaAlaLysGlnAlaGluLysArgSerGluGluGluGluAlaProProAspGlyAlaValAlaGluTyrArgArgGluLysGlnLysTyrGluAlaLeuArgLysGlnGlnSerLysLysGlyThrSerArgGluAspGlnThrLeuAlaLeuLeuAsnGlnPheLysSerLysLeuThrGlnAlaIleAlaGluThrProGluAsnAspIleProGluThrGluValGluAspAspGluGlyTrpMetSerHisValLeuGlnPheGluAspLysSerArgLysValLysAspAlaSerMetGlnAspSerAspThrPheGluIleTyrAspProArgAsnProValAsnLysArgArgArgGluGluSerLysLysLeuMetArgGluLysLysGluArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752481",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381070.8:c.617C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005869.4:c.617C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370460.2:p.Ser206Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005860.2:p.Ser206Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000381070.7:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370460.2:p.Ser206Ter",
        "hgvsWellDefined": "ENSP00000370460.2:p.Ser206_Arg472delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerGluGluLeuArgLysGluAlaArgGlnLeuLysArgGluLeuLeuAlaAlaLysGlnLysLysValGluAsnAlaAlaLysGlnAlaGluLysArgSerGluGluGluGluAlaProProAspGlyAlaValAlaGluTyrArgArgGluLysGlnLysTyrGluAlaLeuArgLysGlnGlnSerLysLysGlyThrSerArgGluAspGlnThrLeuAlaLeuLeuAsnGlnPheLysSerLysLeuThrGlnAlaIleAlaGluThrProGluAsnAspIleProGluThrGluValGluAspAspGluGlyTrpMetSerHisValLeuGlnPheGluAspLysSerArgLysValLysAspAlaSerMetGlnAspSerAspThrPheGluIleTyrAspProArgAsnProValAsnLysArgArgArgGluGluSerLysLysLeuMetArgGluLysLysGluArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000485990.1:n.619C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 818,
          "referenceAllele": "C",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "ENST00000508024.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426802.1:p.Ser206Ter",
        "hgvsWellDefined": "ENSP00000426802.1:p.Ser206_Lys381delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerProProSerLeuCysLeuTyrLeuAspTyrTrpIleGlnLeuSerArgIleThrGlnAlaTyrThrSerTrpTyrTyrTyrGlyPheLeuAspSerSerLeuSerCysValSerSerAlaSerLeuLeuLeuThrArgHisAsnValTyrPheThrLeuGlnThrHisSerThrAspHisLeuAlaAlaCysPhePheMetLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826843247",
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "NM_001297644.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284573.1:p.Ser206Ter",
        "hgvsWellDefined": "NP_001284573.1:p.Ser206_Val391delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerGluGluLeuArgLysGluAlaArgGlnLeuLysArgGluLeuLeuAlaAlaLysGlnLysLysValGluAsnAlaAlaLysGlnAlaGluLysArgSerGluGluGluGluAlaProProAspGlyAlaValAlaGluTyrArgArgGluLysGlnLysTyrGluAlaLeuArgLysGlnGlnSerLysLysGlyThrSerArgGluAspGlnAspValThrCysThrSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826843425",
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "NM_001297645.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284574.1:p.Ser206Ter",
        "hgvsWellDefined": "NP_001284574.1:p.Ser206_Lys381delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerProProSerLeuCysLeuTyrLeuAspTyrTrpIleGlnLeuSerArgIleThrGlnAlaTyrThrSerTrpTyrTyrTyrGlyPheLeuAspSerSerLeuSerCysValSerSerAlaSerLeuLeuLeuThrArgHisAsnValTyrPheThrLeuGlnThrHisSerThrAspHisLeuAlaAlaCysPhePheMetLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645453766",
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "NM_005869.3:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005860.2:p.Ser206Ter",
        "hgvsWellDefined": "NP_005860.2:p.Ser206_Arg472delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerGluGluLeuArgLysGluAlaArgGlnLeuLysArgGluLeuLeuAlaAlaLysGlnLysLysValGluAsnAlaAlaLysGlnAlaGluLysArgSerGluGluGluGluAlaProProAspGlyAlaValAlaGluTyrArgArgGluLysGlnLysTyrGluAlaLeuArgLysGlnGlnSerLysLysGlyThrSerArgGluAspGlnThrLeuAlaLeuLeuAsnGlnPheLysSerLysLeuThrGlnAlaIleAlaGluThrProGluAsnAspIleProGluThrGluValGluAspAspGluGlyTrpMetSerHisValLeuGlnPheGluAspLysSerArgLysValLysAspAlaSerMetGlnAspSerAspThrPheGluIleTyrAspProArgAsnProValAsnLysArgArgArgGluGluSerLysLysLeuMetArgGluLysLysGluArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030928"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "XM_006714518.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714581.1:p.Ser206Ter",
        "hgvsWellDefined": "XP_006714581.1:p.Ser206_Lys333delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgArgLysLeuLeuCysLeuThrLeuGluProSerLeuGlnProGlyProThrAlaAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "XM_011543095.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541397.1:p.Ser206Ter",
        "hgvsWellDefined": "XP_011541397.1:p.Ser206_Thr358delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerGluGluLeuArgLysGluAlaArgGlnLeuLysArgGluLeuLeuAlaAlaLysGlnLysLysValGluAsnAlaAlaLysGlnAlaGluLysArgSerGluGlyLysGlyIleTyrHisAlaTyrPhePheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "XM_011543096.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541398.1:p.Ser206Ter",
        "hgvsWellDefined": "XP_011541398.1:p.Ser206_Glu348delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerCysGlySerAlaProHisHisLeuHisSerArgProGlyMetLysGluGlnLeuLeuSerGluMetCysTyrSerHisGlyArgArgLysArgValMetLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110024"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "XM_011543097.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541399.1:p.Ser206Ter",
        "hgvsWellDefined": "XP_011541399.1:p.Ser206_Ser315delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgArgLysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826975667",
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "NM_001318000.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304929.1:p.Ser206Ter",
        "hgvsWellDefined": "NP_001304929.1:p.Ser206_Lys333delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgArgLysLeuLeuCysLeuThrLeuGluProSerLeuGlnProGlyProThrAlaAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828149690",
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "NM_001364478.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351407.1:p.Ser206Ter",
        "hgvsWellDefined": "NP_001351407.1:p.Ser206_Cys354delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerGluGluLeuArgLysGluAlaArgGlnLeuLysArgGluLeuLeuAlaAlaLysGlnLysLysValGluAsnAlaAlaLysGlnAlaGluLysArgSerGluAspGlyIleSerProCysCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523854"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "XM_011543095.3:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541397.2:p.Ser206Ter",
        "hgvsWellDefined": "XP_011541397.2:p.Ser206_Ala360delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerGluGluLeuArgLysGluAlaArgGlnLeuLysArgGluLeuLeuAlaAlaLysGlnLysLysValGluAsnAlaAlaLysGlnAlaGluLysArgSerGluValPheTyrLeuLysArgArgGlnAsnHisThrLysAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555058"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "XM_011543096.2:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541398.1:p.Ser206Ter",
        "hgvsWellDefined": "XP_011541398.1:p.Ser206_Glu348delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerCysGlySerAlaProHisHisLeuHisSerArgProGlyMetLysGluGlnLeuLeuSerGluMetCysTyrSerHisGlyArgArgLysArgValMetLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645453766",
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "NM_005869.4:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005860.2:p.Ser206Ter",
        "hgvsWellDefined": "NP_005860.2:p.Ser206_Arg472delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerGluGluLeuArgLysGluAlaArgGlnLeuLysArgGluLeuLeuAlaAlaLysGlnLysLysValGluAsnAlaAlaLysGlnAlaGluLysArgSerGluGluGluGluAlaProProAspGlyAlaValAlaGluTyrArgArgGluLysGlnLysTyrGluAlaLeuArgLysGlnGlnSerLysLysGlyThrSerArgGluAspGlnThrLeuAlaLeuLeuAsnGlnPheLysSerLysLeuThrGlnAlaIleAlaGluThrProGluAsnAspIleProGluThrGluValGluAspAspGluGlyTrpMetSerHisValLeuGlnPheGluAspLysSerArgLysValLysAspAlaSerMetGlnAspSerAspThrPheGluIleTyrAspProArgAsnProValAsnLysArgArgArgGluGluSerLysLysLeuMetArgGluLysLysGluArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667180",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381070.8:c.617C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005869.4:c.617C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370460.2:p.Ser206Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005860.2:p.Ser206Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826843425",
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "NM_001297645.2:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284574.1:p.Ser206Ter",
        "hgvsWellDefined": "NP_001284574.1:p.Ser206_Lys381delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgSerProProSerLeuCysLeuTyrLeuAspTyrTrpIleGlnLeuSerArgIleThrGlnAlaTyrThrSerTrpTyrTyrTyrGlyPheLeuAspSerSerLeuSerCysValSerSerAlaSerLeuLeuLeuThrArgHisAsnValTyrPheThrLeuGlnThrHisSerThrAspHisLeuAlaAlaCysPhePheMetLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826975667",
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010664",
      "geneNCBI_id": 10283,
      "geneSymbol": "CWC27",
      "hgvs": [
        "NM_001318000.2:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304929.1:p.Ser206Ter",
        "hgvsWellDefined": "NP_001304929.1:p.Ser206_Lys333delinsPheGlyGluGluAlaGluGluGluGluGluGluValAsnArgValSerGlnSerMetLysGlyLysSerLysSerSerHisAspLeuLeuLysAspAspProHisLeuSerSerValProValValGluSerGluLysGlyAspAlaProAspLeuValAspAspGlyGluAspGluSerAlaGluHisAspGluTyrIleAspGlyAspGluLysAsnLeuMetArgGluArgIleAlaLysLysLeuLysLysAspThrSerAlaAsnValLysSerAlaGlyGluGlyGluValGluLysLysSerValSerArgArgLysLeuLeuCysLeuThrLeuGluProSerLeuGlnProGlyProThrAlaAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717484"
    }
  ],
  "type": "nucleotide"
}