{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16040995",
  "communityStandardTitle": [
    "NM_000112.4(SLC26A2):c.1311dup (p.Ala438CysfsTer9)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357404[alleleid]",
        "alleleId": 357404,
        "preferredName": "NM_000112.4(SLC26A2):c.1311dup (p.Ala438fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371704",
        "RCV": [
          "RCV000410215",
          "RCV000411307",
          "RCV000411541",
          "RCV000412220"
        ],
        "variationId": 371704
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149360467dupT?assembly=hg19",
        "id": "chr5:g.149360467dupT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149980904dupT?assembly=hg38",
        "id": "chr5:g.149980904dupT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517471",
        "rs": 1057517471
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149980903-G-GT?dataset=gnomad_r4",
        "id": "5-149980903-G-GT",
        "variant": "5:149980903 G / GT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 149980904,
          "referenceAllele": "",
          "start": 149980904
        }
      ],
      "hgvs": [
        "NC_000005.10:g.149980904dup",
        "CM000667.2:g.149980904dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 149360467,
          "referenceAllele": "",
          "start": 149360467
        }
      ],
      "hgvs": [
        "NC_000005.9:g.149360467dup",
        "CM000667.1:g.149360467dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 149340660,
          "referenceAllele": "",
          "start": 149340660
        }
      ],
      "hgvs": [
        "NC_000005.8:g.149340660dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22022,
          "referenceAllele": "",
          "start": 22022
        }
      ],
      "hgvs": [
        "NG_007147.2:g.22022dup",
        "LRG_684:g.22022dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000500"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1558,
          "referenceAllele": "",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000286298.5:c.1311dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286298.4:p.Ala438CysfsTer9",
        "hgvsWellDefined": "ENSP00000286298.4:p.[Ala438_Glu447delinsCysSer;Thr449_Gly450del;His452_Ser456delinsLysAspIle;Val458_Val467del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743841",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.1311dup"
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.1311dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:p.Ala438CysfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:p.Ala438CysfsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1579,
          "referenceAllele": "",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000286298.4:c.1311dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286298.4:p.Ala438CysfsTer9",
        "hgvsWellDefined": "ENSP00000286298.4:p.[Ala438_Glu447delinsCysSer;Thr449_Gly450del;His452_Ser456delinsLysAspIle;Val458_Val467del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 2553,
          "referenceAllele": "",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000503336.1:c.372+2553dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426053.1:n.372+2553dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1579,
          "referenceAllele": "",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NM_000112.3:c.1311dup",
        "LRG_684t1:c.1311dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:p.Ala438CysfsTer9",
        "hgvsWellDefined": "NP_000103.2:p.[Ala438_Glu447delinsCysSer;Thr449_Gly450del;His452_Ser456delinsLysAspIle;Val458_Val467del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "XM_017009191.2:c.1311dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864680.1:p.Ala438CysfsTer9",
        "hgvsWellDefined": "XP_016864680.1:p.[Ala438_Glu447delinsCysSer;Thr449_Gly450del;His452_Ser456delinsLysAspIle;Val458_Val467del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1558,
          "referenceAllele": "",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NM_000112.4:c.1311dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:p.Ala438CysfsTer9",
        "hgvsWellDefined": "NP_000103.2:p.[Ala438_Glu447delinsCysSer;Thr449_Gly450del;His452_Ser456delinsLysAspIle;Val458_Val467del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674707",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.1311dup"
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.1311dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:p.Ala438CysfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:p.Ala438CysfsTer9"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}