{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA122813",
  "communityStandardTitle": [
    "NM_021133.4(RNASEL):c.793G>T (p.Glu265Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28043[alleleid]",
        "alleleId": 28043,
        "preferredName": "NM_021133.4(RNASEL):c.793G>T (p.Glu265Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13004",
        "RCV": [
          "RCV000013878",
          "RCV000954847",
          "RCV000991158",
          "RCV003914838"
        ],
        "variationId": 13004
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-182555149-C-A",
        "id": "1-182555149-C-A",
        "variant": "1:182555149 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.182555149C>A?assembly=hg19",
        "id": "chr1:g.182555149C>A"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.182555149_182555151delinsATA?assembly=hg19",
        "id": "chr1:g.182555149_182555151delinsATA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.182586014C>A?assembly=hg38",
        "id": "chr1:g.182586014C>A"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.182586014_182586016delinsATA?assembly=hg38",
        "id": "chr1:g.182586014_182586016delinsATA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315364",
        "rs": 74315364
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-182555149-C-A?dataset=gnomad_r2_1",
        "id": "1-182555149-C-A",
        "variant": "1:182555149 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-182586014-C-A?dataset=gnomad_r3",
        "id": "1-182586014-C-A",
        "variant": "1:182586014 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-182586014-C-A?dataset=gnomad_r4",
        "id": "1-182586014-C-A",
        "variant": "1:182586014 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 182586014,
          "referenceAllele": "C",
          "start": 182586013
        }
      ],
      "hgvs": [
        "NC_000001.11:g.182586014C>A",
        "CM000663.2:g.182586014C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 182555149,
          "referenceAllele": "C",
          "start": 182555148
        }
      ],
      "hgvs": [
        "NC_000001.10:g.182555149C>A",
        "CM000663.1:g.182555149C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 180821772,
          "referenceAllele": "C",
          "start": 180821771
        }
      ],
      "hgvs": [
        "NC_000001.9:g.180821772C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5960,
          "referenceAllele": "G",
          "start": 5959
        }
      ],
      "hgvs": [
        "NG_009024.2:g.5960G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001386"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1047,
          "referenceAllele": "G",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010050",
      "geneNCBI_id": 6041,
      "geneSymbol": "RNASEL",
      "hgvs": [
        "ENST00000367559.7:c.793G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356530.3:p.Glu265Ter",
        "hgvsWellDefined": "ENSP00000356530.3:p.Glu265_Cys741delinsIleAsnAspThrAspSerAspGlyLysThrAlaLeuLeuLeuAlaValGluLeuLysLeuLysLysIleAlaGluLeuLeuCysLysArgGlyAlaSerThrAspCysGlyAspLeuValMetThrAlaArgArgAsnTyrAspHisSerLeuValLysValLeuLeuSerHisGlyAlaLysGluAspPheHisProProAlaGluAspTrpLysProGlnSerSerHisTrpGlyAlaAlaLeuLysAspLeuHisArgIleTyrArgProMetIleGlyLysLeuLysPhePheIleAspGluLysTyrLysIleAlaAspThrSerGluGlyGlyIleTyrLeuGlyPheTyrGluLysGlnGluValAlaValLysThrPheCysGluGlySerProArgAlaGlnArgGluValSerCysLeuGlnSerSerArgGluAsnSerHisLeuValThrPheTyrGlySerGluSerHisArgGlyHisLeuPheValCysValThrLeuCysGluGlnThrLeuGluAlaCysLeuAspValHisArgGlyGluAspValGluAsnGluGluAspGluPheAlaArgAsnValLeuSerSerIlePheLysAlaValGlnGluLeuHisLeuSerCysGlyTyrThrHisGlnAspLeuGlnProGlnAsnIleLeuIleAspSerLysLysAlaAlaHisLeuAlaAspPheAspLysSerIleLysTrpAlaGlyAspProGlnGluValLysArgAspLeuGluAspLeuGlyArgLeuValLeuTyrValValLysLysGlySerIleSerPheGluAspLeuLysAlaGlnSerAsnGluGluValValGlnLeuSerProAspGluGluThrLysAspLeuIleHisArgLeuPheHisProGlyGluHisValArgAspCysLeuSerAspLeuLeuGlyHisProPhePheTrpThrTrpGluSerArgTyrArgThrLeuArgAsnValGlyAsnGluSerAspIleLysThrArgLysSerGluSerGluIleLeuArgLeuLeuGlnProGlyProSerGluHisSerLysSerPheAspLysTrpThrThrLysIleAsnGluCysValMetLysLysMetAsnLysPheTyrGluLysArgGlyAsnPheTyrGlnAsnThrValGlyAspLeuLeuLysPheIleArgAsnLeuGlyGluHisIleAspGluGluLysHisLysLysMetLysLeuLysIleGlyAspProSerLeuTyrPheGlnLysThrPheProAspLeuValIleTyrValTyrThrLysLeuGlnAsnThrGluTyrArgLysHisPheProGlnThrHisSerProAsnLysProGlnCysAspGlyAlaGlyGlyAlaSerGlyLeuAlaSerProGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266454",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367559.7:c.793G>T"
          },
          "RefSeq": {
            "hgvs": "NM_021133.4:c.793G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356530.3:p.Glu265Ter"
          },
          "RefSeq": {
            "hgvs": "NP_066956.1:p.Glu265Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1047,
          "referenceAllele": "G",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010050",
      "geneNCBI_id": 6041,
      "geneSymbol": "RNASEL",
      "hgvs": [
        "ENST00000539397.1:c.793G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440844.1:p.Glu265Ter",
        "hgvsWellDefined": "ENSP00000440844.1:p.Glu265_Gln652delinsIleAsnAspThrAspSerAspGlyLysThrAlaLeuLeuLeuAlaValGluLeuLysLeuLysLysIleAlaGluLeuLeuCysLysArgGlyAlaSerThrAspCysGlyAspLeuValMetThrAlaArgArgAsnTyrAspHisSerLeuValLysValLeuLeuSerHisGlyAlaLysGluAspPheHisProProAlaGluAspTrpLysProGlnSerSerHisTrpGlyAlaAlaLeuLysAspLeuHisArgIleTyrArgProMetIleGlyLysLeuLysPhePheIleAspGluLysTyrLysIleAlaAspThrSerGluGlyGlyIleTyrLeuGlyPheTyrGluLysGlnGluValAlaValLysThrPheCysGluGlySerProArgAlaGlnArgGluValSerCysLeuGlnSerSerArgGluAsnSerHisLeuValThrPheTyrGlySerGluSerHisArgGlyHisLeuPheValCysValThrLeuCysGluGlnThrLeuGluAlaCysLeuAspValHisArgGlyGluAspValGluAsnGluGluAspGluPheAlaArgAsnValLeuSerSerIlePheLysAlaValGlnGluLeuHisLeuSerCysGlyTyrThrHisGlnAspLeuGlnProGlnAsnIleLeuIleAspSerLysLysAlaAlaHisLeuAlaAspPheAspLysSerIleLysTrpAlaGlyAspProGlnGluValLysArgAspLeuGluAspLeuGlyArgLeuValLeuTyrValValLysLysGlySerIleSerPheGluAspLeuLysAlaGlnSerAsnGluGluValValGlnLeuSerProAspGluGluThrLysAspLeuIleHisArgLeuPheHisProGlyGluHisValArgAspCysLeuSerAspLeuLeuGlyHisProPhePheTrpThrTrpGluSerArgTyrArgThrLeuArgAsnValGlyAsnGluSerAspIleLysThrArgLysSerGluSerGluIleLeuArgLeuLeuGlnProGlyProSerGluHisSerLysSerPheAspLysTrpThrThrLysMetSerLysLeuArgHisArgGlnIleIlePheProThrThrGlnAsnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA122814",
      "coordinates": [
        {
          "allele": "T",
          "end": 1050,
          "referenceAllele": "G",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010050",
      "geneNCBI_id": 6041,
      "geneSymbol": "RNASEL",
      "hgvs": [
        "NM_021133.3:c.793G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066956.1:p.Glu265Ter",
        "hgvsWellDefined": "NP_066956.1:p.Glu265_Cys741delinsIleAsnAspThrAspSerAspGlyLysThrAlaLeuLeuLeuAlaValGluLeuLysLeuLysLysIleAlaGluLeuLeuCysLysArgGlyAlaSerThrAspCysGlyAspLeuValMetThrAlaArgArgAsnTyrAspHisSerLeuValLysValLeuLeuSerHisGlyAlaLysGluAspPheHisProProAlaGluAspTrpLysProGlnSerSerHisTrpGlyAlaAlaLeuLysAspLeuHisArgIleTyrArgProMetIleGlyLysLeuLysPhePheIleAspGluLysTyrLysIleAlaAspThrSerGluGlyGlyIleTyrLeuGlyPheTyrGluLysGlnGluValAlaValLysThrPheCysGluGlySerProArgAlaGlnArgGluValSerCysLeuGlnSerSerArgGluAsnSerHisLeuValThrPheTyrGlySerGluSerHisArgGlyHisLeuPheValCysValThrLeuCysGluGlnThrLeuGluAlaCysLeuAspValHisArgGlyGluAspValGluAsnGluGluAspGluPheAlaArgAsnValLeuSerSerIlePheLysAlaValGlnGluLeuHisLeuSerCysGlyTyrThrHisGlnAspLeuGlnProGlnAsnIleLeuIleAspSerLysLysAlaAlaHisLeuAlaAspPheAspLysSerIleLysTrpAlaGlyAspProGlnGluValLysArgAspLeuGluAspLeuGlyArgLeuValLeuTyrValValLysLysGlySerIleSerPheGluAspLeuLysAlaGlnSerAsnGluGluValValGlnLeuSerProAspGluGluThrLysAspLeuIleHisArgLeuPheHisProGlyGluHisValArgAspCysLeuSerAspLeuLeuGlyHisProPhePheTrpThrTrpGluSerArgTyrArgThrLeuArgAsnValGlyAsnGluSerAspIleLysThrArgLysSerGluSerGluIleLeuArgLeuLeuGlnProGlyProSerGluHisSerLysSerPheAspLysTrpThrThrLysIleAsnGluCysValMetLysLysMetAsnLysPheTyrGluLysArgGlyAsnPheTyrGlnAsnThrValGlyAspLeuLeuLysPheIleArgAsnLeuGlyGluHisIleAspGluGluLysHisLysLysMetLysLeuLysIleGlyAspProSerLeuTyrPheGlnLysThrPheProAspLeuValIleTyrValTyrThrLysLeuGlnAsnThrGluTyrArgLysHisPheProGlnThrHisSerProAsnLysProGlnCysAspGlyAlaGlyGlyAlaSerGlyLeuAlaSerProGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "G",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010050",
      "geneNCBI_id": 6041,
      "geneSymbol": "RNASEL",
      "hgvs": [
        "XM_005245411.2:c.793G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245468.1:p.Glu265Ter",
        "hgvsWellDefined": "XP_005245468.1:p.Glu265_Gln652delinsIleAsnAspThrAspSerAspGlyLysThrAlaLeuLeuLeuAlaValGluLeuLysLeuLysLysIleAlaGluLeuLeuCysLysArgGlyAlaSerThrAspCysGlyAspLeuValMetThrAlaArgArgAsnTyrAspHisSerLeuValLysValLeuLeuSerHisGlyAlaLysGluAspPheHisProProAlaGluAspTrpLysProGlnSerSerHisTrpGlyAlaAlaLeuLysAspLeuHisArgIleTyrArgProMetIleGlyLysLeuLysPhePheIleAspGluLysTyrLysIleAlaAspThrSerGluGlyGlyIleTyrLeuGlyPheTyrGluLysGlnGluValAlaValLysThrPheCysGluGlySerProArgAlaGlnArgGluValSerCysLeuGlnSerSerArgGluAsnSerHisLeuValThrPheTyrGlySerGluSerHisArgGlyHisLeuPheValCysValThrLeuCysGluGlnThrLeuGluAlaCysLeuAspValHisArgGlyGluAspValGluAsnGluGluAspGluPheAlaArgAsnValLeuSerSerIlePheLysAlaValGlnGluLeuHisLeuSerCysGlyTyrThrHisGlnAspLeuGlnProGlnAsnIleLeuIleAspSerLysLysAlaAlaHisLeuAlaAspPheAspLysSerIleLysTrpAlaGlyAspProGlnGluValLysArgAspLeuGluAspLeuGlyArgLeuValLeuTyrValValLysLysGlySerIleSerPheGluAspLeuLysAlaGlnSerAsnGluGluValValGlnLeuSerProAspGluGluThrLysAspLeuIleHisArgLeuPheHisProGlyGluHisValArgAspCysLeuSerAspLeuLeuGlyHisProPhePheTrpThrTrpGluSerArgTyrArgThrLeuArgAsnValGlyAsnGluSerAspIleLysThrArgLysSerGluSerGluIleLeuArgLeuLeuGlnProGlyProSerGluHisSerLysSerPheAspLysTrpThrThrLysMetSerLysLeuArgHisArgGlnIleIlePheProThrThrGlnAsnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "G",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010050",
      "geneNCBI_id": 6041,
      "geneSymbol": "RNASEL",
      "hgvs": [
        "XR_001737359.1:n.1076G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "G",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010050",
      "geneNCBI_id": 6041,
      "geneSymbol": "RNASEL",
      "hgvs": [
        "XR_001737360.1:n.1076G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA122814",
      "coordinates": [
        {
          "allele": "T",
          "end": 1047,
          "referenceAllele": "G",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010050",
      "geneNCBI_id": 6041,
      "geneSymbol": "RNASEL",
      "hgvs": [
        "NM_021133.4:c.793G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066956.1:p.Glu265Ter",
        "hgvsWellDefined": "NP_066956.1:p.Glu265_Cys741delinsIleAsnAspThrAspSerAspGlyLysThrAlaLeuLeuLeuAlaValGluLeuLysLeuLysLysIleAlaGluLeuLeuCysLysArgGlyAlaSerThrAspCysGlyAspLeuValMetThrAlaArgArgAsnTyrAspHisSerLeuValLysValLeuLeuSerHisGlyAlaLysGluAspPheHisProProAlaGluAspTrpLysProGlnSerSerHisTrpGlyAlaAlaLeuLysAspLeuHisArgIleTyrArgProMetIleGlyLysLeuLysPhePheIleAspGluLysTyrLysIleAlaAspThrSerGluGlyGlyIleTyrLeuGlyPheTyrGluLysGlnGluValAlaValLysThrPheCysGluGlySerProArgAlaGlnArgGluValSerCysLeuGlnSerSerArgGluAsnSerHisLeuValThrPheTyrGlySerGluSerHisArgGlyHisLeuPheValCysValThrLeuCysGluGlnThrLeuGluAlaCysLeuAspValHisArgGlyGluAspValGluAsnGluGluAspGluPheAlaArgAsnValLeuSerSerIlePheLysAlaValGlnGluLeuHisLeuSerCysGlyTyrThrHisGlnAspLeuGlnProGlnAsnIleLeuIleAspSerLysLysAlaAlaHisLeuAlaAspPheAspLysSerIleLysTrpAlaGlyAspProGlnGluValLysArgAspLeuGluAspLeuGlyArgLeuValLeuTyrValValLysLysGlySerIleSerPheGluAspLeuLysAlaGlnSerAsnGluGluValValGlnLeuSerProAspGluGluThrLysAspLeuIleHisArgLeuPheHisProGlyGluHisValArgAspCysLeuSerAspLeuLeuGlyHisProPhePheTrpThrTrpGluSerArgTyrArgThrLeuArgAsnValGlyAsnGluSerAspIleLysThrArgLysSerGluSerGluIleLeuArgLeuLeuGlnProGlyProSerGluHisSerLysSerPheAspLysTrpThrThrLysIleAsnGluCysValMetLysLysMetAsnLysPheTyrGluLysArgGlyAsnPheTyrGlnAsnThrValGlyAspLeuLeuLysPheIleArgAsnLeuGlyGluHisIleAspGluGluLysHisLysLysMetLysLeuLysIleGlyAspProSerLeuTyrPheGlnLysThrPheProAspLeuValIleTyrValTyrThrLysLeuGlnAsnThrGluTyrArgLysHisPheProGlnThrHisSerProAsnLysProGlnCysAspGlyAlaGlyGlyAlaSerGlyLeuAlaSerProGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670223",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367559.7:c.793G>T"
          },
          "RefSeq": {
            "hgvs": "NM_021133.4:c.793G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356530.3:p.Glu265Ter"
          },
          "RefSeq": {
            "hgvs": "NP_066956.1:p.Glu265Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}