{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA357233",
  "communityStandardTitle": [
    "NM_004054.4(C3AR1):c.355_356dup (p.Asp119GlufsTer19)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224677[alleleid]",
        "alleleId": 224677,
        "preferredName": "NM_004054.4(C3AR1):c.355_356dup (p.Asp119fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/222958",
        "RCV": [
          "RCV000210740"
        ],
        "variationId": 222958
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.8212426_8212427dupTC?assembly=hg19",
        "id": "chr12:g.8212426_8212427dupTC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.8212425_8212426insTC?assembly=hg19",
        "id": "chr12:g.8212425_8212426insTC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.8059830_8059831dupTC?assembly=hg38",
        "id": "chr12:g.8059830_8059831dupTC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.8059829_8059830insTC?assembly=hg38",
        "id": "chr12:g.8059829_8059830insTC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/869312973",
        "rs": 869312973
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "TC",
          "end": 8059831,
          "referenceAllele": "",
          "start": 8059831
        }
      ],
      "hgvs": [
        "NC_000012.12:g.8059830_8059831dup",
        "CM000674.2:g.8059830_8059831dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "TC",
          "end": 8212427,
          "referenceAllele": "",
          "start": 8212427
        }
      ],
      "hgvs": [
        "NC_000012.11:g.8212426_8212427dup",
        "CM000674.1:g.8212426_8212427dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "TC",
          "end": 8103694,
          "referenceAllele": "",
          "start": 8103694
        }
      ],
      "hgvs": [
        "NC_000012.10:g.8103693_8103694dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "GA",
          "end": 11642,
          "referenceAllele": "",
          "start": 11642
        }
      ],
      "hgvs": [
        "NG_050736.1:g.11641_11642dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616800"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GA",
          "end": 448,
          "referenceAllele": "",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001319",
      "geneNCBI_id": 719,
      "geneSymbol": "C3AR1",
      "hgvs": [
        "ENST00000307637.5:c.355_356dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302079.4:p.Asp119GlufsTer19",
        "hgvsWellDefined": "ENSP00000302079.4:p.[Asp119_Leu122delinsGluIleAla;Val124_Cys130delinsLeuTrpTyrSerSer;Asn132_Asn135delinsSerGly;Gly137_Ser141delinsArg;Cys143_Cys145del;Trp147_Val148delinsAlaMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745387",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307637.5:c.355_356dup"
          },
          "RefSeq": {
            "hgvs": "NM_004054.4:c.355_356dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302079.4:p.Asp119GlufsTer19"
          },
          "RefSeq": {
            "hgvs": "NP_004045.1:p.Asp119GlufsTer19"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GA",
          "end": 560,
          "referenceAllele": "",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001319",
      "geneNCBI_id": 719,
      "geneSymbol": "C3AR1",
      "hgvs": [
        "ENST00000307637.4:c.355_356dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302079.4:p.Asp119GlufsTer19",
        "hgvsWellDefined": "ENSP00000302079.4:p.[Asp119_Leu122delinsGluIleAla;Val124_Cys130delinsLeuTrpTyrSerSer;Asn132_Asn135delinsSerGly;Gly137_Ser141delinsArg;Cys143_Cys145del;Trp147_Val148delinsAlaMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255922"
    },
    {
      "coordinates": [
        {
          "allele": "GA",
          "end": 483,
          "referenceAllele": "",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001319",
      "geneNCBI_id": 719,
      "geneSymbol": "C3AR1",
      "hgvs": [
        "ENST00000546241.1:c.355_356dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444500.1:p.Asp119GlufsTer19",
        "hgvsWellDefined": "ENSP00000444500.1:p.[Asp119_Leu122delinsGluIleAla;Val124_Cys130delinsLeuTrpTyrSerSer;Asn132_Asn135delinsSerGly;Gly137_Ser141delinsArgIle;Cys143_Ile146delinsAlaMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365517"
    },
    {
      "coordinates": [
        {
          "allele": "GA",
          "end": 448,
          "referenceAllele": "",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001319",
      "geneNCBI_id": 719,
      "geneSymbol": "C3AR1",
      "hgvs": [
        "NM_004054.2:c.355_356dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_004045.1:p.Asp119GlufsTer19",
        "hgvsWellDefined": "NP_004045.1:p.[Asp119_Leu122delinsGluIleAla;Val124_Cys130delinsLeuTrpTyrSerSer;Asn132_Asn135delinsSerGly;Gly137_Ser141delinsArg;Cys143_Cys145del;Trp147_Val148delinsAlaMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029244"
    },
    {
      "coordinates": [
        {
          "allele": "GA",
          "end": 557,
          "referenceAllele": "",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001319",
      "geneNCBI_id": 719,
      "geneSymbol": "C3AR1",
      "hgvs": [
        "NM_001326475.1:c.355_356dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001313404.1:p.Asp119GlufsTer19",
        "hgvsWellDefined": "NP_001313404.1:p.[Asp119_Leu122delinsGluIleAla;Val124_Cys130delinsLeuTrpTyrSerSer;Asn132_Asn135delinsSerGly;Gly137_Ser141delinsArg;Cys143_Cys145del;Trp147_Val148delinsAlaMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516091"
    },
    {
      "coordinates": [
        {
          "allele": "GA",
          "end": 617,
          "referenceAllele": "",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001319",
      "geneNCBI_id": 719,
      "geneSymbol": "C3AR1",
      "hgvs": [
        "NM_001326477.1:c.355_356dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001313406.1:p.Asp119GlufsTer19",
        "hgvsWellDefined": "NP_001313406.1:p.[Asp119_Leu122delinsGluIleAla;Val124_Cys130delinsLeuTrpTyrSerSer;Asn132_Asn135delinsSerGly;Gly137_Ser141delinsArg;Cys143_Cys145del;Trp147_Val148delinsAlaMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516092"
    },
    {
      "coordinates": [
        {
          "allele": "GA",
          "end": 560,
          "referenceAllele": "",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001319",
      "geneNCBI_id": 719,
      "geneSymbol": "C3AR1",
      "hgvs": [
        "NM_004054.3:c.355_356dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_004045.1:p.Asp119GlufsTer19",
        "hgvsWellDefined": "NP_004045.1:p.[Asp119_Leu122delinsGluIleAla;Val124_Cys130delinsLeuTrpTyrSerSer;Asn132_Asn135delinsSerGly;Gly137_Ser141delinsArg;Cys143_Cys145del;Trp147_Val148delinsAlaMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525169"
    },
    {
      "coordinates": [
        {
          "allele": "GA",
          "end": 445,
          "referenceAllele": "",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001319",
      "geneNCBI_id": 719,
      "geneSymbol": "C3AR1",
      "hgvs": [
        "NM_001326475.2:c.355_356dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001313404.1:p.Asp119GlufsTer19",
        "hgvsWellDefined": "NP_001313404.1:p.[Asp119_Leu122delinsGluIleAla;Val124_Cys130delinsLeuTrpTyrSerSer;Asn132_Asn135delinsSerGly;Gly137_Ser141delinsArg;Cys143_Cys145del;Trp147_Val148delinsAlaMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686478"
    },
    {
      "coordinates": [
        {
          "allele": "GA",
          "end": 505,
          "referenceAllele": "",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001319",
      "geneNCBI_id": 719,
      "geneSymbol": "C3AR1",
      "hgvs": [
        "NM_001326477.2:c.355_356dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001313406.1:p.Asp119GlufsTer19",
        "hgvsWellDefined": "NP_001313406.1:p.[Asp119_Leu122delinsGluIleAla;Val124_Cys130delinsLeuTrpTyrSerSer;Asn132_Asn135delinsSerGly;Gly137_Ser141delinsArg;Cys143_Cys145del;Trp147_Val148delinsAlaMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686479"
    },
    {
      "coordinates": [
        {
          "allele": "GA",
          "end": 448,
          "referenceAllele": "",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001319",
      "geneNCBI_id": 719,
      "geneSymbol": "C3AR1",
      "hgvs": [
        "NM_004054.4:c.355_356dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_004045.1:p.Asp119GlufsTer19",
        "hgvsWellDefined": "NP_004045.1:p.[Asp119_Leu122delinsGluIleAla;Val124_Cys130delinsLeuTrpTyrSerSer;Asn132_Asn135delinsSerGly;Gly137_Ser141delinsArg;Cys143_Cys145del;Trp147_Val148delinsAlaMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696035",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307637.5:c.355_356dup"
          },
          "RefSeq": {
            "hgvs": "NM_004054.4:c.355_356dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302079.4:p.Asp119GlufsTer19"
          },
          "RefSeq": {
            "hgvs": "NP_004045.1:p.Asp119GlufsTer19"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}