{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA264195",
  "communityStandardTitle": [
    "NM_018965.4(TREM2):c.269del (p.Gly90ValfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=71360[alleleid]",
        "alleleId": 71360,
        "preferredName": "NM_018965.4(TREM2):c.269del (p.Gly90fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56721",
        "RCV": [
          "RCV000050134"
        ],
        "variationId": 56721
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.41129123del?assembly=hg19",
        "id": "chr6:g.41129123del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.41161385del?assembly=hg38",
        "id": "chr6:g.41161385del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386834140",
        "rs": 386834140
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 41161387,
          "referenceAllele": "C",
          "start": 41161386
        }
      ],
      "hgvs": [
        "NC_000006.12:g.41161387del",
        "CM000668.2:g.41161387del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 41129125,
          "referenceAllele": "C",
          "start": 41129124
        }
      ],
      "hgvs": [
        "NC_000006.11:g.41129125del",
        "CM000668.1:g.41129125del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 41237103,
          "referenceAllele": "C",
          "start": 41237102
        }
      ],
      "hgvs": [
        "NC_000006.10:g.41237103del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6800,
          "referenceAllele": "G",
          "start": 6799
        }
      ],
      "hgvs": [
        "NG_011561.1:g.6800del",
        "LRG_631:g.6800del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001821"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 303,
          "referenceAllele": "G",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "ENST00000373113.8:c.269del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362205.3:p.Gly90ValfsTer?",
        "hgvsWellDefined": "ENSP00000362205.3:p.[Gly90_Thr92delinsValAla;Thr94_Thr96delinsSerPro;Asn99_Gln111delinsCysGlyIleTyrAsnProMetMetArgValSerThr;Leu113_Gly115delinsAlaArgAla;Glu117Met;Asp119delinsValArgLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751159",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373113.8:c.269del"
          },
          "RefSeq": {
            "hgvs": "NM_018965.4:c.269del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362205.3:p.Gly90ValfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_061838.1:p.Gly90ValfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 373,
          "referenceAllele": "G",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "ENST00000338469.3:c.269del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342651.4:p.Gly90ValfsTer?",
        "hgvsWellDefined": "ENSP00000342651.4:p.[Gly90_Thr92delinsValAla;Thr94_Thr96delinsSerPro;Asn99_Gln111delinsCysGlyIleTyrAsnProMetMetArgValSerThr;Leu113_Gly115delinsAlaArgAla;Glu117Met;Asp119delinsValArgLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260661"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 363,
          "referenceAllele": "G",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "ENST00000373113.7:c.269del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362205.3:p.Gly90ValfsTer?",
        "hgvsWellDefined": "ENSP00000362205.3:p.[Gly90_Thr92delinsValAla;Thr94_Thr96delinsSerPro;Asn99_Gln111delinsCysGlyIleTyrAsnProMetMetArgValSerThr;Leu113_Gly115delinsAlaArgAla;Glu117Met;Asp119delinsValArgLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269506"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 290,
          "referenceAllele": "G",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "ENST00000373122.8:c.269del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362214.4:p.Gly90ValfsTer?",
        "hgvsWellDefined": "ENSP00000362214.4:p.[Gly90_Thr92delinsValAla;Thr94_Thr96delinsSerPro;Asn99_Gln111delinsCysGlyIleTyrAsnProMetMetArgValSerThr;Leu113_Gly115delinsAlaArgAla;Glu117Met;Asp119delinsValArgLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269511"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 373,
          "referenceAllele": "G",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "NM_001271821.1:c.269del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258750.1:p.Gly90ValfsTer?",
        "hgvsWellDefined": "NP_001258750.1:p.[Gly90_Thr92delinsValAla;Thr94_Thr96delinsSerPro;Asn99_Gln111delinsCysGlyIleTyrAsnProMetMetArgValSerThr;Leu113_Gly115delinsAlaArgAla;Glu117Met;Asp119delinsValArgLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020655"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 373,
          "referenceAllele": "G",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "NM_018965.3:c.269del",
        "LRG_631t1:c.269del"
      ],
      "proteinEffect": {
        "hgvs": "NP_061838.1:p.Gly90ValfsTer?",
        "hgvsWellDefined": "NP_061838.1:p.[Gly90_Thr92delinsValAla;Thr94_Thr96delinsSerPro;Asn99_Gln111delinsCysGlyIleTyrAsnProMetMetArgValSerThr;Leu113_Gly115delinsAlaArgAla;Glu117Met;Asp119delinsValArgLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035976"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 156,
          "endIntronDirection": "-",
          "endIntronOffset": 1502,
          "referenceAllele": "G",
          "start": 156,
          "startIntronDirection": "-",
          "startIntronOffset": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "XM_006715116.2:c.131-1503del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715179.1:n.131-1503del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071018"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 222,
          "endIntronDirection": "+",
          "endIntronOffset": 5824,
          "referenceAllele": "C",
          "start": 222,
          "startIntronDirection": "+",
          "startIntronOffset": 5823
        }
      ],
      "hgvs": [
        "XR_926795.1:n.222+5824del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 214,
          "endIntronDirection": "+",
          "endIntronOffset": 5824,
          "referenceAllele": "C",
          "start": 214,
          "startIntronDirection": "+",
          "startIntronOffset": 5823
        }
      ],
      "hgvs": [
        "XR_926796.1:n.214+5824del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123306"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 188,
          "endIntronDirection": "+",
          "endIntronOffset": 5824,
          "referenceAllele": "C",
          "start": 188,
          "startIntronDirection": "+",
          "startIntronOffset": 5823
        }
      ],
      "hgvs": [
        "XR_926797.1:n.188+5824del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123307"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 517,
          "endIntronDirection": "+",
          "endIntronOffset": 5824,
          "referenceAllele": "C",
          "start": 517,
          "startIntronDirection": "+",
          "startIntronOffset": 5823
        }
      ],
      "hgvs": [
        "XR_926795.2:n.517+5824del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608345"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 232,
          "endIntronDirection": "+",
          "endIntronOffset": 5824,
          "referenceAllele": "C",
          "start": 232,
          "startIntronDirection": "+",
          "startIntronOffset": 5823
        }
      ],
      "hgvs": [
        "XR_926797.2:n.232+5824del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608346"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 303,
          "referenceAllele": "G",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "NM_001271821.2:c.269del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258750.1:p.Gly90ValfsTer?",
        "hgvsWellDefined": "NP_001258750.1:p.[Gly90_Thr92delinsValAla;Thr94_Thr96delinsSerPro;Asn99_Gln111delinsCysGlyIleTyrAsnProMetMetArgValSerThr;Leu113_Gly115delinsAlaArgAla;Glu117Met;Asp119delinsValArgLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681205"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 303,
          "referenceAllele": "G",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "NM_018965.4:c.269del"
      ],
      "proteinEffect": {
        "hgvs": "NP_061838.1:p.Gly90ValfsTer?",
        "hgvsWellDefined": "NP_061838.1:p.[Gly90_Thr92delinsValAla;Thr94_Thr96delinsSerPro;Asn99_Gln111delinsCysGlyIleTyrAsnProMetMetArgValSerThr;Leu113_Gly115delinsAlaArgAla;Glu117Met;Asp119delinsValArgLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698115",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373113.8:c.269del"
          },
          "RefSeq": {
            "hgvs": "NM_018965.4:c.269del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362205.3:p.Gly90ValfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_061838.1:p.Gly90ValfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}