{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA275538",
  "communityStandardTitle": [
    "NM_002087.4(GRN):c.87dup (p.Cys30LeufsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=199866[alleleid]",
        "alleleId": 199866,
        "preferredName": "NM_002087.4(GRN):c.87dup (p.Cys30fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203459",
        "RCV": [
          "RCV000185614",
          "RCV001852413"
        ],
        "variationId": 203459
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-42426617-G-GC",
        "id": "17-42426617-G-GC",
        "variant": "17:42426617 G / GC"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42426619dupC?assembly=hg19",
        "id": "chr17:g.42426619dupC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42426617_42426618insC?assembly=hg19",
        "id": "chr17:g.42426617_42426618insC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44349251dupC?assembly=hg38",
        "id": "chr17:g.44349251dupC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44349249_44349250insC?assembly=hg38",
        "id": "chr17:g.44349249_44349250insC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794729672",
        "rs": 794729672
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42426617-G-GC?dataset=gnomad_r2_1",
        "id": "17-42426617-G-GC",
        "variant": "17:42426617 G / GC"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44349249-G-GC?dataset=gnomad_r4",
        "id": "17-44349249-G-GC",
        "variant": "17:44349249 G / GC"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 44349251,
          "referenceAllele": "",
          "start": 44349251
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44349251dup",
        "CM000679.2:g.44349251dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 42426619,
          "referenceAllele": "",
          "start": 42426619
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42426619dup",
        "CM000679.1:g.42426619dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 39782145,
          "referenceAllele": "",
          "start": 39782145
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39782145dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9129,
          "referenceAllele": "",
          "start": 9129
        }
      ],
      "hgvs": [
        "NG_007886.1:g.9129dup",
        "LRG_661:g.9129dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000693"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127,
          "referenceAllele": "",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000053867.8:c.87dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000053867.2:p.Cys30LeufsTer?",
        "hgvsWellDefined": "ENSP00000053867.2:p.[Cys30_Cys31delinsLeu;Asp33del;Gly36_Tyr39delinsProArgArg;Cys41_Pro44delinsGlnLeuGln;Asp47_Trp49delinsProSer;Thr51_Arg55delinsSerGlyGlnMetAla;Leu57_Gly58delinsAsnThrGluGlnAlaSer;Gly59_Pro60insTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739997",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000053867.8:c.87dup"
          },
          "RefSeq": {
            "hgvs": "NM_002087.4:c.87dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000053867.2:p.Cys30LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_002078.1:p.Cys30LeufsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 87,
          "referenceAllele": "",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000639447.1:c.87dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492014.1:p.Cys30LeufsTer?",
        "hgvsWellDefined": "ENSP00000492014.1:p.[Cys30_Cys31delinsLeu;Asp33del;Gly36_Tyr39delinsProArgArg;Cys41_Pro44delinsGlnLeuGln;Asp47_Trp49delinsProSer;Thr51_Arg55delinsSerGlyGlnMetAla;Leu57_Gly58delinsAsnThrGluGlnAlaSer;Gly59_Pro60insTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "referenceAllele": "",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000053867.7:c.87dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000053867.2:p.Cys30LeufsTer?",
        "hgvsWellDefined": "ENSP00000053867.2:p.[Cys30_Cys31delinsLeu;Asp33del;Gly36_Tyr39delinsProArgArg;Cys41_Pro44delinsGlnLeuGln;Asp47_Trp49delinsProSer;Thr51_Arg55delinsSerGlyGlnMetAla;Leu57_Gly58delinsAsnThrGluGlnAlaSer;Gly59_Pro60insTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 538,
          "referenceAllele": "",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000585512.5:c.87dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467745.1:p.Cys30LeufsTer?",
        "hgvsWellDefined": "ENSP00000467745.1:p.[Cys30_Asp33delinsLeuLeuProGly;Gly35_Ala37delinsArgArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 115,
          "referenceAllele": "",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000586782.5:c.87dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468318.1:p.Cys30LeufsTer?",
        "hgvsWellDefined": "ENSP00000468318.1:p.[Cys30_Cys31delinsLeu;Asp33del;Gly36_Tyr39delinsProArgArg;Cys41_Pro44delinsGlnLeuGln;Asp47_Trp49delinsProSer;Thr51_Arg55delinsSerGlyGlnMetAla;Leu57_Gly58delinsAsnThrGluGlnAlaSer;Gly59_Pro60insTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 435,
          "referenceAllele": "",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000587109.5:c.87dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466271.1:p.Cys30LeufsTer?",
        "hgvsWellDefined": "ENSP00000466271.1:p.[Cys30_Cys31delinsLeu;Asp33del;Gly36_Tyr39delinsProArgArg;Cys41_Pro44delinsGlnLeuGln;Asp47_Trp49delinsProSer;Thr51_Arg55delinsSerGlyGlnMetAla;Leu57_Gly58delinsAsnThrGluGlnAlaSer;Gly59_Pro60insTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389849"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127,
          "referenceAllele": "",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000587387.5:c.87dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467431.1:p.Cys30LeufsTer?",
        "hgvsWellDefined": "ENSP00000467431.1:p.[Cys30_Cys31delinsLeu;Asp33del;Gly36_Tyr39delinsProArgArg;Cys41_Pro44delinsGlnLeuGln;Asp47_Trp49delinsProSer;Thr51_Arg55delinsSerGlyGlnMetAla;Leu57_Gly58delinsAsnThrGluGlnAlaSer;Gly59_Pro60insTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 204,
          "referenceAllele": "",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000587518.5:c.87dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465518.1:p.Cys30LeufsTer?",
        "hgvsWellDefined": "ENSP00000465518.1:p.[Cys30_Cys31delinsLeu;Asp33del;Gly36_Tyr39delinsProArgArg;Cys41_Pro44delinsGlnLeuGln;Asp47_Trp49delinsProSer;Thr51_Arg55delinsSerGlyGlnMetAla;Leu57_Gly58delinsAsnThrGluGlnAlaSer;Gly59_Pro60insTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 123,
          "referenceAllele": "",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000587958.1:n.123dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 143,
          "referenceAllele": "",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000588143.5:c.87dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465375.1:p.Cys30LeufsTer?",
        "hgvsWellDefined": "ENSP00000465375.1:p.[Cys30_Cys31delinsLeu;Asp33del;Gly36_Tyr39delinsProArgArg;Cys41_Pro44delinsGlnLeuGln;Asp47_Trp49delinsProSer;Thr51_Arg55delinsSerGlyGlnMetAla;Leu57_Gly58delinsAsnThrGluGlnAlaSer;Gly59_Pro60insTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 183,
          "referenceAllele": "",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000588170.5:n.183dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390596"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127,
          "referenceAllele": "",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000588237.5:c.87dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466611.1:p.Cys30LeufsTer?",
        "hgvsWellDefined": "ENSP00000466611.1:p.[Cys30_Cys31delinsLeu;Asp33del;Gly36_Tyr39delinsProArgArg;Cys41_Pro44delinsGlnLeuGln;Asp47_Trp49delinsProSer;Thr51_Arg55delinsSerGlyGlnMetAla;Leu57_Gly58delinsAsnThrGluGlnAlaSer;Gly59_Pro60insTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 124,
          "referenceAllele": "",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000589265.5:c.87dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467616.1:p.Cys30LeufsTer?",
        "hgvsWellDefined": "ENSP00000467616.1:p.[Cys30_Cys31delinsLeu;Asp33del;Gly36_Tyr39delinsProArgArg;Cys41_Pro44delinsGlnLeuGln;Asp47_Trp49delinsProSer;Thr51_Arg55delinsSerGlyGlnMetAla;Leu57_Gly58delinsAsnThrGluGlnAlaSer;Gly59_Pro60insTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391372"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 299,
          "referenceAllele": "",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000589536.5:c.87dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466956.1:p.Cys30LeufsTer?",
        "hgvsWellDefined": "ENSP00000466956.1:p.[Cys30_Cys31delinsLeu;Asp33del;Gly36_Tyr39delinsProArgArg;Cys41_Pro44delinsGlnLeuGln;Asp47_Trp49delinsProSer;Thr51_Arg55delinsSerGlyGlnMetAla;Leu57_Gly58delinsAsnThrGluGlnAlaSer;Gly59_Pro60insTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 267,
          "referenceAllele": "",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000591740.5:c.87dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467022.1:p.Cys30LeufsTer?",
        "hgvsWellDefined": "ENSP00000467022.1:p.[Cys30_Cys31delinsLeu;Asp33del;Gly36_Tyr39delinsProArgArg;Cys41_Pro44delinsGlnLeuGln;Asp47_Trp49delinsProSer;Thr51_Arg55delinsSerGlyGlnMetAla;Leu57_Gly58delinsAsnThrGluGlnAlaSer;Gly59_Pro60insTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127,
          "referenceAllele": "",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000592323.5:n.127dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 202,
          "referenceAllele": "",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000592783.5:c.87dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467870.1:p.Cys30LeufsTer?",
        "hgvsWellDefined": "ENSP00000467870.1:p.[Cys30_Cys31delinsLeu;Asp33del;Gly36_Tyr39delinsProArgArg;Cys41_Pro44delinsGlnLeuGln;Asp47_Trp49delinsProSer;Thr51_Arg55delinsSerGlyGlnMetAla;Leu57_Gly58delinsAsnThrGluGlnAlaSer;Gly59_Pro60insTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393804"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 403,
          "referenceAllele": "",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000593167.5:c.87dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466405.1:p.Cys30LeufsTer?",
        "hgvsWellDefined": "ENSP00000466405.1:p.[Cys30_Cys31delinsLeu;Asp33del;Gly36_Tyr39delinsProArgArg;Cys41_Pro44delinsGlnLeuGln;Asp47_Trp49delinsProSer;Thr51_Arg55delinsSerGlyGlnMetAla;Leu57_Gly58delinsAsnThrGluGlnAlaSer;Gly59_Pro60insTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394065"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "referenceAllele": "",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "NM_002087.3:c.87dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_002078.1:p.Cys30LeufsTer?",
        "hgvsWellDefined": "NP_002078.1:p.[Cys30_Cys31delinsLeu;Asp33del;Gly36_Tyr39delinsProArgArg;Cys41_Pro44delinsGlnLeuGln;Asp47_Trp49delinsProSer;Thr51_Arg55delinsSerGlyGlnMetAla;Leu57_Gly58delinsAsnThrGluGlnAlaSer;Gly59_Pro60insTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 388,
          "referenceAllele": "",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "XM_005257253.1:c.87dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257310.1:p.Cys30LeufsTer?",
        "hgvsWellDefined": "XP_005257310.1:p.[Cys30_Cys31delinsLeu;Asp33del;Gly36_Tyr39delinsProArgArg;Cys41_Pro44delinsGlnLeuGln;Asp47_Trp49delinsProSer;Thr51_Arg55delinsSerGlyGlnMetAla;Leu57_Gly58delinsAsnThrGluGlnAlaSer;Gly59_Pro60insTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221,
          "referenceAllele": "",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "XM_024450730.1:c.87dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306498.1:p.Cys30LeufsTer?",
        "hgvsWellDefined": "XP_024306498.1:p.[Cys30_Cys31delinsLeu;Asp33del;Gly36_Tyr39delinsProArgArg;Cys41_Pro44delinsGlnLeuGln;Asp47_Trp49delinsProSer;Thr51_Arg55delinsSerGlyGlnMetAla;Leu57_Gly58delinsAsnThrGluGlnAlaSer;Gly59_Pro60insTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584261"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127,
          "referenceAllele": "",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "NM_002087.4:c.87dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_002078.1:p.Cys30LeufsTer?",
        "hgvsWellDefined": "NP_002078.1:p.[Cys30_Cys31delinsLeu;Asp33del;Gly36_Tyr39delinsProArgArg;Cys41_Pro44delinsGlnLeuGln;Asp47_Trp49delinsProSer;Thr51_Arg55delinsSerGlyGlnMetAla;Leu57_Gly58delinsAsnThrGluGlnAlaSer;Gly59_Pro60insTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000053867.8:c.87dup"
          },
          "RefSeq": {
            "hgvs": "NM_002087.4:c.87dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000053867.2:p.Cys30LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_002078.1:p.Cys30LeufsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}