{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580075793",
  "communityStandardTitle": [
    "NM_012434.5(SLC17A5):c.479del (p.Gly160GlufsTer11)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2154037[alleleid]",
        "alleleId": 2154037,
        "preferredName": "NM_012434.5(SLC17A5):c.479del (p.Gly160fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2098722",
        "RCV": [
          "RCV003019267"
        ],
        "variationId": 2098722
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2533510673",
        "rs": 2533510673
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 73641738,
          "referenceAllele": "C",
          "start": 73641737
        }
      ],
      "hgvs": [
        "NC_000006.12:g.73641738del",
        "CM000668.2:g.73641738del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 74351461,
          "referenceAllele": "C",
          "start": 74351460
        }
      ],
      "hgvs": [
        "NC_000006.11:g.74351461del",
        "CM000668.1:g.74351461del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 74408182,
          "referenceAllele": "C",
          "start": 74408181
        }
      ],
      "hgvs": [
        "NC_000006.10:g.74408182del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 17278,
          "referenceAllele": "G",
          "start": 17277
        }
      ],
      "hgvs": [
        "NG_008272.1:g.17278del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000987"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "G",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "ENST00000355773.6:c.479del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348019.5:p.Gly160GlufsTer11",
        "hgvsWellDefined": "ENSP00000348019.5:p.[Gly160_Pro163delinsGlu;Ile165_Ala169delinsAspHisSer;Glu171_Gly174delinsTyrSer;Gly176_Met182del;Met185_Ala190del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355773.6:c.479del"
          },
          "RefSeq": {
            "hgvs": "NM_012434.5:c.479del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348019.5:p.Gly160GlufsTer11"
          },
          "RefSeq": {
            "hgvs": "NP_036566.1:p.Gly160GlufsTer11"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 748,
          "referenceAllele": "G",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "ENST00000355773.5:c.479del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348019.5:p.Gly160GlufsTer11",
        "hgvsWellDefined": "ENSP00000348019.5:p.[Gly160_Pro163delinsGlu;Ile165_Ala169delinsAspHisSer;Glu171_Gly174delinsTyrSer;Gly176_Met182del;Met185_Ala190del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263546"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 245,
          "referenceAllele": "G",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "ENST00000481996.1:n.245del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321797"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 607,
          "referenceAllele": "G",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_012434.4:c.479del"
      ],
      "proteinEffect": {
        "hgvs": "NP_036566.1:p.Gly160GlufsTer11",
        "hgvsWellDefined": "NP_036566.1:p.[Gly160_Pro163delinsGlu;Ile165_Ala169delinsAspHisSer;Glu171_Gly174delinsTyrSer;Gly176_Met182del;Met185_Ala190del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032590"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_005248710.2:c.428del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248767.1:p.Gly143GlufsTer11",
        "hgvsWellDefined": "XP_005248767.1:p.[Gly143_Pro146delinsGlu;Ile148_Ala152delinsAspHisSer;Glu154_Gly157delinsTyrSer;Gly159_Met165del;Met168_Ala173del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058554"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_005248711.1:c.281del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248768.1:p.Gly94GlufsTer11",
        "hgvsWellDefined": "XP_005248768.1:p.[Gly94_Pro97delinsGlu;Ile99_Ala103delinsAspHisSer;Glu105_Gly108delinsTyrSer;Gly110_Met116del;Met119_Ala124del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058555"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 565,
          "referenceAllele": "G",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_011535750.1:c.479del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534052.1:p.Gly160GlufsTer11",
        "hgvsWellDefined": "XP_011534052.1:p.[Gly160_Pro163delinsGlu;Ile165_Ala169delinsAspHisSer;Glu171_Gly174delinsTyrSer;Gly176_Met182del;Met185_Ala190del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102753"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 565,
          "referenceAllele": "G",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_011535751.1:c.479del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534053.1:p.Gly160GlufsTer11",
        "hgvsWellDefined": "XP_011534053.1:p.[Gly160_Pro163delinsGlu;Ile165_Ala169delinsAspHisSer;Glu171_Gly174delinsTyrSer;Gly176_Met182del;Met185_Ala190del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102754"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "G",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_012434.5:c.479del"
      ],
      "proteinEffect": {
        "hgvs": "NP_036566.1:p.Gly160GlufsTer11",
        "hgvsWellDefined": "NP_036566.1:p.[Gly160_Pro163delinsGlu;Ile165_Ala169delinsAspHisSer;Glu171_Gly174delinsTyrSer;Gly176_Met182del;Met185_Ala190del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668048",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355773.6:c.479del"
          },
          "RefSeq": {
            "hgvs": "NM_012434.5:c.479del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348019.5:p.Gly160GlufsTer11"
          },
          "RefSeq": {
            "hgvs": "NP_036566.1:p.Gly160GlufsTer11"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 388,
          "referenceAllele": "G",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382629.1:c.248del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369558.1:p.Gly83GlufsTer11",
        "hgvsWellDefined": "NP_001369558.1:p.[Gly83_Pro86delinsGlu;Ile88_Ala92delinsAspHisSer;Glu94_Gly97delinsTyrSer;Gly99_Met105del;Met108_Ala113del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722473"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "G",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382630.1:c.479del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369559.1:p.Gly160GlufsTer11",
        "hgvsWellDefined": "NP_001369559.1:p.[Gly160_Pro163delinsGlu;Ile165_Ala169delinsAspHisSer;Glu171_Gly174delinsTyrSer;Gly176_Met182del;Met185_Ala190del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722474"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 606,
          "referenceAllele": "G",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382631.1:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369560.1:p.Gly167GlufsTer11",
        "hgvsWellDefined": "NP_001369560.1:p.[Gly167_Pro170delinsGlu;Ile172_Ala176delinsAspHisSer;Glu178_Gly181delinsTyrSer;Gly183_Met189del;Met192_Ala197del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722475"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "G",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382632.1:c.479del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369561.1:p.Gly160GlufsTer11",
        "hgvsWellDefined": "NP_001369561.1:p.[Gly160_Pro163delinsGlu;Ile165_Ala169delinsAspHisSer;Glu171_Gly174delinsTyrSer;Gly176_Met182del;Met185_Ala190del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722476"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "G",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382633.1:c.479del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369562.1:p.Gly160GlufsTer11",
        "hgvsWellDefined": "NP_001369562.1:p.[Gly160_Pro163delinsGlu;Ile165_Ala169delinsAspHisSer;Glu171_Gly174delinsTyrSer;Gly176_Met182del;Met185_Ala190del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722477"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "G",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382634.1:c.479del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369563.1:p.Gly160GlufsTer11",
        "hgvsWellDefined": "NP_001369563.1:p.[Gly160_Pro163delinsGlu;Ile165_Ala169delinsAspHisSer;Glu171_Gly174delinsTyrSer;Gly176_Met182del;Met185_Ala190del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722478"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "G",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382635.1:c.479del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369564.1:p.Gly160GlufsTer11",
        "hgvsWellDefined": "NP_001369564.1:p.[Gly160_Pro163delinsGlu;Ile165_Ala169delinsAspHisSer;Glu171_Gly174delinsTyrSer;Gly176_Met182del;Met185_Ala190del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722479"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 388,
          "referenceAllele": "G",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382636.1:c.248del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369565.1:p.Gly83GlufsTer11",
        "hgvsWellDefined": "NP_001369565.1:p.[Gly83_Pro86delinsGlu;Ile88_Ala92delinsAspHisSer;Glu94_Gly97delinsTyrSer;Gly99_Met105del;Met108_Ala113del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722480"
    }
  ],
  "type": "nucleotide"
}