{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2965196359",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.687dup (p.Val230ArgfsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 80105889,
          "referenceAllele": "",
          "start": 80105889
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80105889dup",
        "CM000679.2:g.80105889dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 78079688,
          "referenceAllele": "",
          "start": 78079688
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78079688dup",
        "CM000679.1:g.78079688dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 75694283,
          "referenceAllele": "",
          "start": 75694283
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75694283dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9334,
          "referenceAllele": "",
          "start": 9334
        }
      ],
      "hgvs": [
        "NG_009822.1:g.9334dup",
        "LRG_673:g.9334dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 812,
          "referenceAllele": "",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Val230ArgfsTer?",
        "hgvsWellDefined": "ENSP00000460543.2:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 842,
          "referenceAllele": "",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:p.Val230ArgfsTer?",
        "hgvsWellDefined": "ENSP00000459972.2:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 884,
          "referenceAllele": "",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Val230ArgfsTer?",
        "hgvsWellDefined": "ENSP00000458306.2:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1029,
          "referenceAllele": "",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Val230ArgfsTer?",
        "hgvsWellDefined": "ENSP00000305692.3:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.687dup"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.687dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Val230ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Val230ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 906,
          "referenceAllele": "",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Val230ArgfsTer?",
        "hgvsWellDefined": "ENSP00000305692.3:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 831,
          "referenceAllele": "",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Val230ArgfsTer?",
        "hgvsWellDefined": "ENSP00000374665.3:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 789,
          "referenceAllele": "",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.5:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.1:p.Val230ArgfsTer?",
        "hgvsWellDefined": "ENSP00000460543.1:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1054,
          "referenceAllele": "",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.687dup",
        "LRG_673t1:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Val230ArgfsTer?",
        "hgvsWellDefined": "NP_000143.2:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 869,
          "referenceAllele": "",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Val230ArgfsTer?",
        "hgvsWellDefined": "NP_001073271.1:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 789,
          "referenceAllele": "",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Val230ArgfsTer?",
        "hgvsWellDefined": "NP_001073272.1:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 900,
          "referenceAllele": "",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Val230ArgfsTer?",
        "hgvsWellDefined": "XP_005257250.1:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 929,
          "referenceAllele": "",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Val230ArgfsTer?",
        "hgvsWellDefined": "XP_005257251.1:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1084,
          "referenceAllele": "",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Val230ArgfsTer?",
        "hgvsWellDefined": "NP_000143.2:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 899,
          "referenceAllele": "",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Val230ArgfsTer?",
        "hgvsWellDefined": "NP_001073271.1:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Val230ArgfsTer?",
        "hgvsWellDefined": "NP_001073272.1:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 885,
          "referenceAllele": "",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Val230ArgfsTer?",
        "hgvsWellDefined": "XP_005257250.1:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 925,
          "referenceAllele": "",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Val230ArgfsTer?",
        "hgvsWellDefined": "XP_005257251.1:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1029,
          "referenceAllele": "",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Val230ArgfsTer?",
        "hgvsWellDefined": "NP_000143.2:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.687dup"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.687dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Val230ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Val230ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 844,
          "referenceAllele": "",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Val230ArgfsTer?",
        "hgvsWellDefined": "NP_001073271.1:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 764,
          "referenceAllele": "",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.687dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Val230ArgfsTer?",
        "hgvsWellDefined": "NP_001073272.1:p.[Val230_Val236delinsArgAlaAlaGluHisAspGlyGly;Pro238_Leu239insVal;Phe240_Ser251delinsCysGlyProValProSerAlaValHisLeuAlaAla;Pro253_Gln255delinsAlaVal;Ile257_Gly259delinsHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}