{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343416",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.857dup (p.Asn287GlufsTer5)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47693[alleleid]",
        "alleleId": 47693,
        "preferredName": "NM_024312.5(GNPTAB):c.857dup (p.Asn287fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39090",
        "RCV": [
          "RCV000032357"
        ],
        "variationId": 39090
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102164850dupT?assembly=hg19",
        "id": "chr12:g.102164850dupT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102164849_102164850insT?assembly=hg19",
        "id": "chr12:g.102164849_102164850insT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101771072dupT?assembly=hg38",
        "id": "chr12:g.101771072dupT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101771071_101771072insT?assembly=hg38",
        "id": "chr12:g.101771071_101771072insT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/281864966",
        "rs": 281864966
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101771073,
          "referenceAllele": "",
          "start": 101771073
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101771073dup",
        "CM000674.2:g.101771073dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102164851,
          "referenceAllele": "",
          "start": 102164851
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102164851dup",
        "CM000674.1:g.102164851dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 100688982,
          "referenceAllele": "",
          "start": 100688982
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100688982dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 64796,
          "referenceAllele": "",
          "start": 64796
        }
      ],
      "hgvs": [
        "NG_021243.1:g.64796dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1141,
          "referenceAllele": "",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.857dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Asn287GlufsTer5",
        "hgvsWellDefined": "ENSP00000299314.7:p.[Asn287_Lys293del;Leu295_Trp304delinsHis;Leu306_Asp315delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.857dup"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.857dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Asn287GlufsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Asn287GlufsTer5"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1120,
          "referenceAllele": "",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.857dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Asn287GlufsTer5",
        "hgvsWellDefined": "ENSP00000299314.7:p.[Asn287_Lys293del;Leu295_Trp304delinsHis;Leu306_Asp315delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1000,
          "referenceAllele": "",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000549940.5:c.857dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449150.1:p.Asn287GlufsTer5",
        "hgvsWellDefined": "ENSP00000449150.1:p.[Asn287_Lys293del;Leu295_Trp304delinsHis;Leu306_Asp315delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1049,
          "referenceAllele": "",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.857dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Asn287GlufsTer5",
        "hgvsWellDefined": "NP_077288.2:p.[Asn287_Lys293del;Leu295_Trp304delinsHis;Leu306_Asp315delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "referenceAllele": "",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.2:c.857dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Asn287GlufsTer5",
        "hgvsWellDefined": "XP_006719656.1:p.[Asn287_Lys293del;Leu295_Trp304delinsHis;Leu306_Asp315delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1590,
          "referenceAllele": "",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.1:c.776dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Asn260GlufsTer5",
        "hgvsWellDefined": "XP_011537033.1:p.[Asn260_Lys266del;Leu268_Trp277delinsHis;Leu279_Asp288delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1000,
          "referenceAllele": "",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.3:c.857dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Asn287GlufsTer5",
        "hgvsWellDefined": "XP_006719656.1:p.[Asn287_Lys293del;Leu295_Trp304delinsHis;Leu306_Asp315delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1045,
          "referenceAllele": "",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.2:c.776dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Asn260GlufsTer5",
        "hgvsWellDefined": "XP_011537033.1:p.[Asn260_Lys266del;Leu268_Trp277delinsHis;Leu279_Asp288delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 946,
          "referenceAllele": "",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.641dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:p.Asn215GlufsTer5",
        "hgvsWellDefined": "XP_016875450.1:p.[Asn215_Lys221del;Leu223_Trp232delinsHis;Leu234_Asp243delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1000,
          "referenceAllele": "",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.-494dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:n.-494dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1141,
          "referenceAllele": "",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.857dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Asn287GlufsTer5",
        "hgvsWellDefined": "NP_077288.2:p.[Asn287_Lys293del;Leu295_Trp304delinsHis;Leu306_Asp315delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.857dup"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.857dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Asn287GlufsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Asn287GlufsTer5"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}