{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16620215",
  "communityStandardTitle": [
    "NM_001126108.2(SLC12A3):c.1126del (p.Leu376SerfsTer30)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=409655[alleleid]",
        "alleleId": 409655,
        "preferredName": "NM_001126108.2(SLC12A3):c.1126del (p.Leu376fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419448",
        "RCV": [
          "RCV000478305"
        ],
        "variationId": 419448
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.56912019del?assembly=hg19",
        "id": "chr16:g.56912019del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.56878107del?assembly=hg38",
        "id": "chr16:g.56878107del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793879",
        "rs": 1064793879
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 56878107,
          "referenceAllele": "C",
          "start": 56878106
        }
      ],
      "hgvs": [
        "NC_000016.10:g.56878107del",
        "CM000678.2:g.56878107del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 56912019,
          "referenceAllele": "C",
          "start": 56912018
        }
      ],
      "hgvs": [
        "NC_000016.9:g.56912019del",
        "CM000678.1:g.56912019del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 55469520,
          "referenceAllele": "C",
          "start": 55469519
        }
      ],
      "hgvs": [
        "NC_000016.8:g.55469520del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 17901,
          "referenceAllele": "C",
          "start": 17900
        }
      ],
      "hgvs": [
        "NG_009386.1:g.17901del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001588"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 17901,
          "referenceAllele": "C",
          "start": 17900
        }
      ],
      "hgvs": [
        "NG_009386.2:g.17901del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706095"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000563236.6:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456149.2:p.Leu376SerfsTer30",
        "hgvsWellDefined": "ENSP00000456149.2:p.[Leu376_Ile379delinsSerTrpProPheSerGlyArgPro;Trp381Pro;Thr383_Ile384delinsTrpPro;Tyr386_Ser390delinsGlnProProLeu;Thr392_Ser395delinsProAlaTrp;Val398_Ala401delinsMetProLeuGly;Gly403_Leu405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760388",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000563236.6:c.1126del"
          },
          "RefSeq": {
            "hgvs": "NM_001126108.2:c.1126del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000456149.2:p.Leu376SerfsTer30"
          },
          "RefSeq": {
            "hgvs": "NP_001119580.2:p.Leu376SerfsTer30"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1148,
          "referenceAllele": "C",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000262502.5:c.1123del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262502.5:p.Leu375SerfsTer30",
        "hgvsWellDefined": "ENSP00000262502.5:p.[Leu375_Ile378delinsSerTrpProPheSerGlyArgPro;Trp380Pro;Thr382_Ile383delinsTrpPro;Tyr385_Ser389delinsGlnProProLeu;Thr391_Ser394delinsProAlaTrp;Val397_Ala400delinsMetProLeuGly;Gly402_Leu404del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251040"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000438926.6:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402152.2:p.Leu376SerfsTer30",
        "hgvsWellDefined": "ENSP00000402152.2:p.[Leu376_Ile379delinsSerTrpProPheSerGlyArgPro;Trp381Pro;Thr383_Ile384delinsTrpPro;Tyr386_Ser390delinsGlnProProLeu;Thr392_Ser395delinsProAlaTrp;Val398_Ala401delinsMetProLeuGly;Gly403_Leu405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295174"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1151,
          "referenceAllele": "C",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000563236.5:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456149.1:p.Leu376SerfsTer30",
        "hgvsWellDefined": "ENSP00000456149.1:p.[Leu376_Ile379delinsSerTrpProPheSerGlyArgPro;Trp381Pro;Thr383_Ile384delinsTrpPro;Tyr386_Ser390delinsGlnProProLeu;Thr392_Ser395delinsProAlaTrp;Val398_Ala401delinsMetProLeuGly;Gly403_Leu405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377286"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000566786.5:c.1123del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457552.1:p.Leu375SerfsTer30",
        "hgvsWellDefined": "ENSP00000457552.1:p.[Leu375_Ile378delinsSerTrpProPheSerGlyArgPro;Trp380Pro;Thr382_Ile383delinsTrpPro;Tyr385_Ser389delinsGlnProProLeu;Thr391_Ser394delinsProAlaTrp;Val397_Ala400delinsMetProLeuGly;Gly402_Leu404del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_000339.2:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000330.2:p.Leu376SerfsTer30",
        "hgvsWellDefined": "NP_000330.2:p.[Leu376_Ile379delinsSerTrpProPheSerGlyArgPro;Trp381Pro;Thr383_Ile384delinsTrpPro;Tyr386_Ser390delinsGlnProProLeu;Thr392_Ser395delinsProAlaTrp;Val398_Ala401delinsMetProLeuGly;Gly403_Leu405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006402"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_001126107.1:c.1123del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119579.1:p.Leu375SerfsTer30",
        "hgvsWellDefined": "NP_001119579.1:p.[Leu375_Ile378delinsSerTrpProPheSerGlyArgPro;Trp380Pro;Thr382_Ile383delinsTrpPro;Tyr385_Ser389delinsGlnProProLeu;Thr391_Ser394delinsProAlaTrp;Val397_Ala400delinsMetProLeuGly;Gly402_Leu404del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011487"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_001126108.1:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119580.1:p.Leu376SerfsTer30",
        "hgvsWellDefined": "NP_001119580.1:p.[Leu376_Ile379delinsSerTrpProPheSerGlyArgPro;Trp381Pro;Thr383_Ile384delinsTrpPro;Tyr386_Ser390delinsGlnProProLeu;Thr392_Ser395delinsProAlaTrp;Val398_Ala401delinsMetProLeuGly;Gly403_Leu405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011488"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "XM_005256119.1:c.1123del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256176.1:p.Leu375SerfsTer30",
        "hgvsWellDefined": "XP_005256176.1:p.[Leu375_Ile378delinsSerTrpProPheSerGlyArgPro;Trp380Pro;Thr382_Ile383delinsTrpPro;Tyr385_Ser389delinsGlnProProLeu;Thr391_Ser394delinsProAlaTrp;Val397_Ala400delinsMetProLeuGly;Gly402_Leu404del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061172"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "XM_005256119.2:c.1123del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256176.1:p.Leu375SerfsTer30",
        "hgvsWellDefined": "XP_005256176.1:p.[Leu375_Ile378delinsSerTrpProPheSerGlyArgPro;Trp380Pro;Thr382_Ile383delinsTrpPro;Tyr385_Ser389delinsGlnProProLeu;Thr391_Ser394delinsProAlaTrp;Val397_Ala400delinsMetProLeuGly;Gly402_Leu404del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534392"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_000339.3:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000330.3:p.Leu376SerfsTer30",
        "hgvsWellDefined": "NP_000330.3:p.[Leu376_Ile379delinsSerTrpProPheSerGlyArgPro;Trp381Pro;Thr383_Ile384delinsTrpPro;Tyr386_Ser390delinsGlnProProLeu;Thr392_Ser395delinsProAlaTrp;Val398_Ala401delinsMetProLeuGly;Gly403_Leu405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674797"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_001126107.2:c.1123del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119579.2:p.Leu375SerfsTer30",
        "hgvsWellDefined": "NP_001119579.2:p.[Leu375_Ile378delinsSerTrpProPheSerGlyArgPro;Trp380Pro;Thr382_Ile383delinsTrpPro;Tyr385_Ser389delinsGlnProProLeu;Thr391_Ser394delinsProAlaTrp;Val397_Ala400delinsMetProLeuGly;Gly402_Leu404del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676821"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_001126108.2:c.1126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119580.2:p.Leu376SerfsTer30",
        "hgvsWellDefined": "NP_001119580.2:p.[Leu376_Ile379delinsSerTrpProPheSerGlyArgPro;Trp381Pro;Thr383_Ile384delinsTrpPro;Tyr386_Ser390delinsGlnProProLeu;Thr392_Ser395delinsProAlaTrp;Val398_Ala401delinsMetProLeuGly;Gly403_Leu405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676822",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000563236.6:c.1126del"
          },
          "RefSeq": {
            "hgvs": "NM_001126108.2:c.1126del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000456149.2:p.Leu376SerfsTer30"
          },
          "RefSeq": {
            "hgvs": "NP_001119580.2:p.Leu376SerfsTer30"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}