{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA274067",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.1411_1414del (p.Glu471ProfsTer5)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187002[alleleid]",
        "alleleId": 187002,
        "preferredName": "NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188874",
        "RCV": [
          "RCV000169228",
          "RCV001781522"
        ],
        "variationId": 188874
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-78083827-CGAGA-C",
        "id": "17-78083827-CGAGA-C",
        "variant": "17:78083827 CGAGA / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78083828_78083831del?assembly=hg19",
        "id": "chr17:g.78083828_78083831del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80110029_80110032del?assembly=hg38",
        "id": "chr17:g.80110029_80110032del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/770276275",
        "rs": 770276275
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78083827-CGAGA-C?dataset=gnomad_r2_1",
        "id": "17-78083827-CGAGA-C",
        "variant": "17:78083827 CGAGA / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80110028-CGAGA-C?dataset=gnomad_r3",
        "id": "17-80110028-CGAGA-C",
        "variant": "17:80110028 CGAGA / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80110028-CGAGA-C?dataset=gnomad_r4",
        "id": "17-80110028-CGAGA-C",
        "variant": "17:80110028 CGAGA / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 80110032,
          "referenceAllele": "GAGA",
          "start": 80110028
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80110029_80110032del",
        "CM000679.2:g.80110029_80110032del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 78083831,
          "referenceAllele": "GAGA",
          "start": 78083827
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78083828_78083831del",
        "CM000679.1:g.78083828_78083831del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 75698426,
          "referenceAllele": "GAGA",
          "start": 75698422
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75698423_75698426del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13477,
          "referenceAllele": "GAGA",
          "start": 13473
        }
      ],
      "hgvs": [
        "NG_009822.1:g.13474_13477del",
        "LRG_673:g.13474_13477del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1539,
          "referenceAllele": "GAGA",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.1411_1414del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Glu471ProfsTer5",
        "hgvsWellDefined": "ENSP00000460543.2:p.[Glu471_Gln474del;Leu476_Gly483delinsAla;Thr485_Asp501delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1569,
          "referenceAllele": "GAGA",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.1411_1414del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:p.Glu471ProfsTer5",
        "hgvsWellDefined": "ENSP00000459972.2:p.[Glu471_Gln474del;Leu476_Gly483delinsAla;Thr485_Asp501delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1611,
          "referenceAllele": "GAGA",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.1411_1414del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Glu471ProfsTer5",
        "hgvsWellDefined": "ENSP00000458306.2:p.[Glu471_Gln474del;Leu476_Gly483delinsAla;Thr485_Asp501delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1756,
          "referenceAllele": "GAGA",
          "start": 1752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.1411_1414del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Glu471ProfsTer5",
        "hgvsWellDefined": "ENSP00000305692.3:p.[Glu471_Gln474del;Leu476_Gly483delinsAla;Thr485_Asp501delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.1411_1414del"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.1411_1414del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Glu471ProfsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Glu471ProfsTer5"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1633,
          "referenceAllele": "GAGA",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.1411_1414del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Glu471ProfsTer5",
        "hgvsWellDefined": "ENSP00000305692.3:p.[Glu471_Gln474del;Leu476_Gly483delinsAla;Thr485_Asp501delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1558,
          "referenceAllele": "GAGA",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.1411_1414del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Glu471ProfsTer5",
        "hgvsWellDefined": "ENSP00000374665.3:p.[Glu471_Gln474del;Leu476_Gly483delinsAla;Thr485_Asp501delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1781,
          "referenceAllele": "GAGA",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.1411_1414del",
        "LRG_673t1:c.1411_1414del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Glu471ProfsTer5",
        "hgvsWellDefined": "NP_000143.2:p.[Glu471_Gln474del;Leu476_Gly483delinsAla;Thr485_Asp501delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1596,
          "referenceAllele": "GAGA",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.1411_1414del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Glu471ProfsTer5",
        "hgvsWellDefined": "NP_001073271.1:p.[Glu471_Gln474del;Leu476_Gly483delinsAla;Thr485_Asp501delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1516,
          "referenceAllele": "GAGA",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.1411_1414del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Glu471ProfsTer5",
        "hgvsWellDefined": "NP_001073272.1:p.[Glu471_Gln474del;Leu476_Gly483delinsAla;Thr485_Asp501delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1627,
          "referenceAllele": "GAGA",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.1411_1414del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Glu471ProfsTer5",
        "hgvsWellDefined": "XP_005257250.1:p.[Glu471_Gln474del;Leu476_Gly483delinsAla;Thr485_Asp501delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1656,
          "referenceAllele": "GAGA",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.1411_1414del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Glu471ProfsTer5",
        "hgvsWellDefined": "XP_005257251.1:p.[Glu471_Gln474del;Leu476_Gly483delinsAla;Thr485_Asp501delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1811,
          "referenceAllele": "GAGA",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.1411_1414del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Glu471ProfsTer5",
        "hgvsWellDefined": "NP_000143.2:p.[Glu471_Gln474del;Leu476_Gly483delinsAla;Thr485_Asp501delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1626,
          "referenceAllele": "GAGA",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.1411_1414del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Glu471ProfsTer5",
        "hgvsWellDefined": "NP_001073271.1:p.[Glu471_Gln474del;Leu476_Gly483delinsAla;Thr485_Asp501delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1546,
          "referenceAllele": "GAGA",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.1411_1414del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Glu471ProfsTer5",
        "hgvsWellDefined": "NP_001073272.1:p.[Glu471_Gln474del;Leu476_Gly483delinsAla;Thr485_Asp501delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1612,
          "referenceAllele": "GAGA",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.1411_1414del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Glu471ProfsTer5",
        "hgvsWellDefined": "XP_005257250.1:p.[Glu471_Gln474del;Leu476_Gly483delinsAla;Thr485_Asp501delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1652,
          "referenceAllele": "GAGA",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.1411_1414del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Glu471ProfsTer5",
        "hgvsWellDefined": "XP_005257251.1:p.[Glu471_Gln474del;Leu476_Gly483delinsAla;Thr485_Asp501delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1756,
          "referenceAllele": "GAGA",
          "start": 1752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.1411_1414del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Glu471ProfsTer5",
        "hgvsWellDefined": "NP_000143.2:p.[Glu471_Gln474del;Leu476_Gly483delinsAla;Thr485_Asp501delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.1411_1414del"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.1411_1414del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Glu471ProfsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Glu471ProfsTer5"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1571,
          "referenceAllele": "GAGA",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.1411_1414del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Glu471ProfsTer5",
        "hgvsWellDefined": "NP_001073271.1:p.[Glu471_Gln474del;Leu476_Gly483delinsAla;Thr485_Asp501delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1491,
          "referenceAllele": "GAGA",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.1411_1414del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Glu471ProfsTer5",
        "hgvsWellDefined": "NP_001073272.1:p.[Glu471_Gln474del;Leu476_Gly483delinsAla;Thr485_Asp501delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}