{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401327142",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.2743C>T (p.Gln915Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3027711[alleleid]",
        "alleleId": 3027711,
        "preferredName": "NM_000152.5(GAA):c.2743C>T (p.Gln915Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2869228",
        "RCV": [
          "RCV003610544"
        ],
        "variationId": 2869228
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78092548C>T?assembly=hg19",
        "id": "chr17:g.78092548C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80118749C>T?assembly=hg38",
        "id": "chr17:g.80118749C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2510404730",
        "rs": 2510404730
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 80118749,
          "referenceAllele": "C",
          "start": 80118748
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80118749C>T",
        "CM000679.2:g.80118749C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 78092548,
          "referenceAllele": "C",
          "start": 78092547
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78092548C>T",
        "CM000679.1:g.78092548C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75707143,
          "referenceAllele": "C",
          "start": 75707142
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75707143C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22194,
          "referenceAllele": "C",
          "start": 22193
        }
      ],
      "hgvs": [
        "NG_009822.1:g.22194C>T",
        "LRG_673:g.22194C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2868,
          "referenceAllele": "C",
          "start": 2867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Gln915Ter",
        "hgvsWellDefined": "ENSP00000460543.2:p.Gln915_Cys952delinsValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2929,
          "referenceAllele": "C",
          "start": 2928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.*881C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:n.*881C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2940,
          "referenceAllele": "C",
          "start": 2939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Gln915Ter",
        "hgvsWellDefined": "ENSP00000458306.2:p.Gln915_Cys952delinsValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3085,
          "referenceAllele": "C",
          "start": 3084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Gln915Ter",
        "hgvsWellDefined": "ENSP00000305692.3:p.Gln915_Cys952delinsValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.2743C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.2743C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Gln915Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Gln915Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2962,
          "referenceAllele": "C",
          "start": 2961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Gln915Ter",
        "hgvsWellDefined": "ENSP00000305692.3:p.Gln915_Cys952delinsValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2887,
          "referenceAllele": "C",
          "start": 2886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Gln915Ter",
        "hgvsWellDefined": "ENSP00000374665.3:p.Gln915_Cys952delinsValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000573556.1:n.696C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825066573",
      "coordinates": [
        {
          "allele": "T",
          "end": 3110,
          "referenceAllele": "C",
          "start": 3109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.2743C>T",
        "LRG_673t1:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Gln915Ter",
        "hgvsWellDefined": "NP_000143.2:p.Gln915_Cys952delinsValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825463490",
      "coordinates": [
        {
          "allele": "T",
          "end": 2925,
          "referenceAllele": "C",
          "start": 2924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Gln915Ter",
        "hgvsWellDefined": "NP_001073271.1:p.Gln915_Cys952delinsValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825444229",
      "coordinates": [
        {
          "allele": "T",
          "end": 2845,
          "referenceAllele": "C",
          "start": 2844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Gln915Ter",
        "hgvsWellDefined": "NP_001073272.1:p.Gln915_Cys952delinsValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2956,
          "referenceAllele": "C",
          "start": 2955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Gln915Ter",
        "hgvsWellDefined": "XP_005257250.1:p.Gln915_Cys952delinsValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2985,
          "referenceAllele": "C",
          "start": 2984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Gln915Ter",
        "hgvsWellDefined": "XP_005257251.1:p.Gln915_Cys952delinsValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825066573",
      "coordinates": [
        {
          "allele": "T",
          "end": 3140,
          "referenceAllele": "C",
          "start": 3139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Gln915Ter",
        "hgvsWellDefined": "NP_000143.2:p.Gln915_Cys952delinsValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825463490",
      "coordinates": [
        {
          "allele": "T",
          "end": 2955,
          "referenceAllele": "C",
          "start": 2954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Gln915Ter",
        "hgvsWellDefined": "NP_001073271.1:p.Gln915_Cys952delinsValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825444229",
      "coordinates": [
        {
          "allele": "T",
          "end": 2875,
          "referenceAllele": "C",
          "start": 2874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Gln915Ter",
        "hgvsWellDefined": "NP_001073272.1:p.Gln915_Cys952delinsValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2941,
          "referenceAllele": "C",
          "start": 2940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Gln915Ter",
        "hgvsWellDefined": "XP_005257250.1:p.Gln915_Cys952delinsValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2981,
          "referenceAllele": "C",
          "start": 2980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Gln915Ter",
        "hgvsWellDefined": "XP_005257251.1:p.Gln915_Cys952delinsValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825066573",
      "coordinates": [
        {
          "allele": "T",
          "end": 3085,
          "referenceAllele": "C",
          "start": 3084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Gln915Ter",
        "hgvsWellDefined": "NP_000143.2:p.Gln915_Cys952delinsValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.2743C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.2743C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Gln915Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Gln915Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825463490",
      "coordinates": [
        {
          "allele": "T",
          "end": 2900,
          "referenceAllele": "C",
          "start": 2899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Gln915Ter",
        "hgvsWellDefined": "NP_001073271.1:p.Gln915_Cys952delinsValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825444229",
      "coordinates": [
        {
          "allele": "T",
          "end": 2820,
          "referenceAllele": "C",
          "start": 2819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.2743C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Gln915Ter",
        "hgvsWellDefined": "NP_001073272.1:p.Gln915_Cys952delinsValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}