{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA223756",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.616_619del (p.Thr206TyrfsTer6)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46991[alleleid]",
        "alleleId": 46991,
        "preferredName": "NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38432",
        "RCV": [
          "RCV000031989",
          "RCV000665595",
          "RCV000780318",
          "RCV000790767"
        ],
        "variationId": 38432
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-102174351-ACTGT-A",
        "id": "12-102174351-ACTGT-A",
        "variant": "12:102174351 ACTGT / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102174352_102174355del?assembly=hg19",
        "id": "chr12:g.102174352_102174355del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102174352_102174355delCTGT?assembly=hg19",
        "id": "chr12:g.102174352_102174355delCTGT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101780574_101780577del?assembly=hg38",
        "id": "chr12:g.101780574_101780577del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/281865024",
        "rs": 281865024
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102174351-ACTGT-A?dataset=gnomad_r2_1",
        "id": "12-102174351-ACTGT-A",
        "variant": "12:102174351 ACTGT / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-101780573-ACTGT-A?dataset=gnomad_r3",
        "id": "12-101780573-ACTGT-A",
        "variant": "12:101780573 ACTGT / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-101780573-ACTGT-A?dataset=gnomad_r4",
        "id": "12-101780573-ACTGT-A",
        "variant": "12:101780573 ACTGT / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 101780584,
          "referenceAllele": "TCTG",
          "start": 101780580
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101780581_101780584del",
        "CM000674.2:g.101780581_101780584del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 102174362,
          "referenceAllele": "TCTG",
          "start": 102174358
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102174359_102174362del",
        "CM000674.1:g.102174359_102174362del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 100698493,
          "referenceAllele": "TCTG",
          "start": 100698489
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100698490_100698493del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 55294,
          "referenceAllele": "GACA",
          "start": 55290
        }
      ],
      "hgvs": [
        "NG_021243.1:g.55291_55294del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 903,
          "referenceAllele": "GACA",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.616_619del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Thr206TyrfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.616_619del"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.616_619del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Thr206TyrfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Thr206TyrfsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 882,
          "referenceAllele": "GACA",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.616_619del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Thr206TyrfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 762,
          "referenceAllele": "GACA",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000549940.5:c.616_619del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449150.1:p.Thr206TyrfsTer6",
        "hgvsWellDefined": "ENSP00000449150.1:p.[Thr206_Arg209delinsTyr;Tyr211_Pro219del;Leu221_Leu227del;Phe229_Pro235del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367749"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 253,
          "referenceAllele": "GACA",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000552681.1:c.250_253del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449217.1:p.Thr84TyrfsTer6",
        "hgvsWellDefined": "ENSP00000449217.1:p.[Thr84_Arg87delinsTyr;Tyr89_Pro97del;Leu99_Leu105del;Phe107_Pro113del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369389"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 811,
          "referenceAllele": "GACA",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.616_619del"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Thr206TyrfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 806,
          "referenceAllele": "GACA",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.2:c.616_619del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Thr206TyrfsTer6",
        "hgvsWellDefined": "XP_006719656.1:p.[Thr206_Arg209delinsTyr;Tyr211_Pro219del;Leu221_Leu227del;Phe229_Pro235del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1352,
          "referenceAllele": "GACA",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.1:c.535_538del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Thr179TyrfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 762,
          "referenceAllele": "GACA",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.3:c.616_619del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Thr206TyrfsTer6",
        "hgvsWellDefined": "XP_006719656.1:p.[Thr206_Arg209delinsTyr;Tyr211_Pro219del;Leu221_Leu227del;Phe229_Pro235del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 807,
          "referenceAllele": "GACA",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.2:c.535_538del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Thr179TyrfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 708,
          "referenceAllele": "GACA",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.400_403del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:p.Thr134TyrfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 762,
          "referenceAllele": "GACA",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.-735_-732del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:n.-735_-732del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 903,
          "referenceAllele": "GACA",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.616_619del"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Thr206TyrfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.616_619del"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.616_619del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Thr206TyrfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Thr206TyrfsTer6"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}