{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA279901",
  "communityStandardTitle": [
    "NM_177550.5(SLC13A5):c.1207_1217dup (p.Pro407ArgfsTer12)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214824[alleleid]",
        "alleleId": 214824,
        "preferredName": "NM_177550.5(SLC13A5):c.1207_1217dup (p.Pro407fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/218172",
        "RCV": [
          "RCV000202392"
        ],
        "variationId": 218172
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.6596421_6596431dupACTTTCTCCTG?assembly=hg19",
        "id": "chr17:g.6596421_6596431dupACTTTCTCCTG"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.6596420_6596421insACTTTCTCCTG?assembly=hg19",
        "id": "chr17:g.6596420_6596421insACTTTCTCCTG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.6693102_6693112dupACTTTCTCCTG?assembly=hg38",
        "id": "chr17:g.6693102_6693112dupACTTTCTCCTG"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.6693101_6693102insACTTTCTCCTG?assembly=hg38",
        "id": "chr17:g.6693101_6693102insACTTTCTCCTG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863225447",
        "rs": 863225447
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-6693101-C-CACTTTCTCCTG?dataset=gnomad_r4",
        "id": "17-6693101-C-CACTTTCTCCTG",
        "variant": "17:6693101 C / CACTTTCTCCTG"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "ACTTTCTCCTG",
          "end": 6693112,
          "referenceAllele": "",
          "start": 6693112
        }
      ],
      "hgvs": [
        "NC_000017.11:g.6693102_6693112dup",
        "CM000679.2:g.6693102_6693112dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "ACTTTCTCCTG",
          "end": 6596431,
          "referenceAllele": "",
          "start": 6596431
        }
      ],
      "hgvs": [
        "NC_000017.10:g.6596421_6596431dup",
        "CM000679.1:g.6596421_6596431dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "ACTTTCTCCTG",
          "end": 6537155,
          "referenceAllele": "",
          "start": 6537155
        }
      ],
      "hgvs": [
        "NC_000017.9:g.6537145_6537155dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "CAGGAGAAAGT",
          "end": 25320,
          "referenceAllele": "",
          "start": 25320
        }
      ],
      "hgvs": [
        "NG_034220.1:g.25310_25320dup",
        "LRG_1020:g.25310_25320dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005810"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CAGGAGAAAGT",
          "end": 1253,
          "referenceAllele": "",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000433363.7:c.1207_1217dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406220.2:p.Pro407ArgfsTer12",
        "hgvsWellDefined": "ENSP00000406220.2:p.[Pro407_Leu414delinsArgArgLysCysPro;Gly416_Phe418del;Leu420_Gly423del;Glu425_Lys435delinsCysCysTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000433363.7:c.1207_1217dup"
          },
          "RefSeq": {
            "hgvs": "NM_177550.5:c.1207_1217dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406220.2:p.Pro407ArgfsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_808218.1:p.Pro407ArgfsTer12"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "ACTTTCTCCTG",
          "end": 972,
          "referenceAllele": "",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034494",
      "geneNCBI_id": 388327,
      "geneSymbol": "C17orf100",
      "hgvs": [
        "ENST00000635042.1:n.962_972dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762578"
    },
    {
      "coordinates": [
        {
          "allele": "CAGGAGAAAGT",
          "end": 1202,
          "referenceAllele": "",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000293800.10:c.1156_1166dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293800.6:p.Pro390ArgfsTer12",
        "hgvsWellDefined": "ENSP00000293800.6:p.[Pro390_Leu397delinsArgArgLysCysPro;Gly399_Phe401del;Leu403_Gly406del;Glu408_Lys418delinsCysCysTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253910"
    },
    {
      "coordinates": [
        {
          "allele": "CAGGAGAAAGT",
          "end": 1121,
          "referenceAllele": "",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000381074.8:c.1078_1088dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370464.4:p.Pro364ArgfsTer12",
        "hgvsWellDefined": "ENSP00000370464.4:p.[Pro364_Leu371delinsArgArgLysCysPro;Gly373_Phe375del;Leu377_Gly380del;Glu382_Lys392delinsCysCysTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273207"
    },
    {
      "coordinates": [
        {
          "allele": "CAGGAGAAAGT",
          "end": 1451,
          "referenceAllele": "",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000433363.6:c.1207_1217dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406220.2:p.Pro407ArgfsTer12",
        "hgvsWellDefined": "ENSP00000406220.2:p.[Pro407_Leu414delinsArgArgLysCysPro;Gly416_Phe418del;Leu420_Gly423del;Glu425_Lys435delinsCysCysTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292502"
    },
    {
      "coordinates": [
        {
          "allele": "CAGGAGAAAGT",
          "end": 326,
          "referenceAllele": "",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000572727.1:n.316_326dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383019"
    },
    {
      "coordinates": [
        {
          "allele": "CAGGAGAAAGT",
          "end": 1261,
          "referenceAllele": "",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000573648.5:c.1207_1217dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459372.1:p.Pro407ArgfsTer12",
        "hgvsWellDefined": "ENSP00000459372.1:p.[Pro407_Leu414delinsArgArgLysCysPro;Gly416_Phe418del;Leu420_Gly423del;Glu425_Lys435delinsCysCysTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383375"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTTCTCCTG",
          "end": 910,
          "referenceAllele": "",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013742",
      "geneNCBI_id": 100652883,
      "geneSymbol": "ALOX15P1",
      "hgvs": [
        "ENST00000634558.1:n.900_910dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407864"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTTCTCCTG",
          "end": 512,
          "referenceAllele": "",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013742",
      "geneNCBI_id": 100652883,
      "geneSymbol": "ALOX15P1",
      "hgvs": [
        "ENST00000634823.1:n.502_512dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407948"
    },
    {
      "coordinates": [
        {
          "allele": "CAGGAGAAAGT",
          "end": 1305,
          "referenceAllele": "",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_001143838.2:c.1207_1217dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137310.1:p.Pro407ArgfsTer12",
        "hgvsWellDefined": "NP_001137310.1:p.[Pro407_Leu414delinsArgArgLysCysPro;Gly416_Phe418del;Leu420_Gly423del;Glu425_Lys435delinsCysCysTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013168"
    },
    {
      "coordinates": [
        {
          "allele": "CAGGAGAAAGT",
          "end": 1254,
          "referenceAllele": "",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_001284509.1:c.1156_1166dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271438.1:p.Pro390ArgfsTer12",
        "hgvsWellDefined": "NP_001271438.1:p.[Pro390_Leu397delinsArgArgLysCysPro;Gly399_Phe401del;Leu403_Gly406del;Glu408_Lys418delinsCysCysTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022646"
    },
    {
      "coordinates": [
        {
          "allele": "CAGGAGAAAGT",
          "end": 1176,
          "referenceAllele": "",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_001284510.1:c.1078_1088dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271439.1:p.Pro364ArgfsTer12",
        "hgvsWellDefined": "NP_001271439.1:p.[Pro364_Leu371delinsArgArgLysCysPro;Gly373_Phe375del;Leu377_Gly380del;Glu382_Lys392delinsCysCysTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022647"
    },
    {
      "coordinates": [
        {
          "allele": "CAGGAGAAAGT",
          "end": 1305,
          "referenceAllele": "",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_177550.4:c.1207_1217dup",
        "LRG_1020t1:c.1207_1217dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_808218.1:p.Pro407ArgfsTer12",
        "hgvsWellDefined": "NP_808218.1:p.[Pro407_Leu414delinsArgArgLysCysPro;Gly416_Phe418del;Leu420_Gly423del;Glu425_Lys435delinsCysCysTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043375"
    },
    {
      "coordinates": [
        {
          "allele": "CAGGAGAAAGT",
          "end": 1165,
          "referenceAllele": "",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "XM_006721504.2:c.1096_1106dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721567.1:p.Pro370ArgfsTer12",
        "hgvsWellDefined": "XP_006721567.1:p.[Pro370_Leu377delinsArgArgLysCysPro;Gly379_Phe381del;Leu383_Gly386del;Glu388_Lys398delinsCysCysTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074096"
    },
    {
      "coordinates": [
        {
          "allele": "CAGGAGAAAGT",
          "end": 1295,
          "referenceAllele": "",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "XM_011523795.1:c.1207_1217dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522097.1:p.Pro407ArgfsTer12",
        "hgvsWellDefined": "XP_011522097.1:p.[Pro407_Leu414delinsArgArgLysCysPro;Gly416_Phe418del;Leu420_Gly423del;Glu425_Lys435delinsCysCysTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090928"
    },
    {
      "coordinates": [
        {
          "allele": "CAGGAGAAAGT",
          "end": 1284,
          "referenceAllele": "",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "XM_011523795.3:c.1207_1217dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522097.1:p.Pro407ArgfsTer12",
        "hgvsWellDefined": "XP_011522097.1:p.[Pro407_Leu414delinsArgArgLysCysPro;Gly416_Phe418del;Leu420_Gly423del;Glu425_Lys435delinsCysCysTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547180"
    },
    {
      "coordinates": [
        {
          "allele": "CAGGAGAAAGT",
          "end": 1253,
          "referenceAllele": "",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_001143838.3:c.1207_1217dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137310.1:p.Pro407ArgfsTer12",
        "hgvsWellDefined": "NP_001137310.1:p.[Pro407_Leu414delinsArgArgLysCysPro;Gly416_Phe418del;Leu420_Gly423del;Glu425_Lys435delinsCysCysTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677668"
    },
    {
      "coordinates": [
        {
          "allele": "CAGGAGAAAGT",
          "end": 1202,
          "referenceAllele": "",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_001284509.2:c.1156_1166dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271438.1:p.Pro390ArgfsTer12",
        "hgvsWellDefined": "NP_001271438.1:p.[Pro390_Leu397delinsArgArgLysCysPro;Gly399_Phe401del;Leu403_Gly406del;Glu408_Lys418delinsCysCysTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682099"
    },
    {
      "coordinates": [
        {
          "allele": "CAGGAGAAAGT",
          "end": 1124,
          "referenceAllele": "",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_001284510.2:c.1078_1088dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271439.1:p.Pro364ArgfsTer12",
        "hgvsWellDefined": "NP_001271439.1:p.[Pro364_Leu371delinsArgArgLysCysPro;Gly373_Phe375del;Leu377_Gly380del;Glu382_Lys392delinsCysCysTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682100"
    },
    {
      "coordinates": [
        {
          "allele": "CAGGAGAAAGT",
          "end": 1253,
          "referenceAllele": "",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_177550.5:c.1207_1217dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_808218.1:p.Pro407ArgfsTer12",
        "hgvsWellDefined": "NP_808218.1:p.[Pro407_Leu414delinsArgArgLysCysPro;Gly416_Phe418del;Leu420_Gly423del;Glu425_Lys435delinsCysCysTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700795",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000433363.7:c.1207_1217dup"
          },
          "RefSeq": {
            "hgvs": "NM_177550.5:c.1207_1217dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406220.2:p.Pro407ArgfsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_808218.1:p.Pro407ArgfsTer12"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}