{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127397",
  "communityStandardTitle": [
    "NM_000342.4(SLC4A1):c.2548_2550del (p.Val850del)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32811[alleleid]",
        "alleleId": 32811,
        "preferredName": "NM_000342.4(SLC4A1):c.2545GTG[1] (p.Val850del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17772",
        "RCV": [
          "RCV000019349"
        ],
        "variationId": 17772
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42328632_42328634del?assembly=hg19",
        "id": "chr17:g.42328632_42328634del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44251264_44251266del?assembly=hg38",
        "id": "chr17:g.44251264_44251266del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912752",
        "rs": 121912752
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42328631-TCAC-T?dataset=gnomad_r2_1",
        "id": "17-42328631-TCAC-T",
        "variant": "17:42328631 TCAC / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44251263-TCAC-T?dataset=gnomad_r4",
        "id": "17-44251263-TCAC-T",
        "variant": "17:44251263 TCAC / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 44251270,
          "referenceAllele": "ACC",
          "start": 44251267
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44251268_44251270del",
        "CM000679.2:g.44251268_44251270del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 42328638,
          "referenceAllele": "ACC",
          "start": 42328635
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42328636_42328638del",
        "CM000679.1:g.42328636_42328638del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 39684164,
          "referenceAllele": "ACC",
          "start": 39684161
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39684162_39684164del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 21871,
          "referenceAllele": "TGG",
          "start": 21868
        }
      ],
      "hgvs": [
        "NG_007498.1:g.21869_21871del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000620"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2700,
          "referenceAllele": "TGG",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "ENST00000262418.12:c.2548_2550del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262418.6:p.Val850del",
        "hgvsWellDefined": "ENSP00000262418.6:p.Val850del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262418.12:c.2548_2550del"
          },
          "RefSeq": {
            "hgvs": "NM_000342.4:c.2548_2550del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262418.6:p.Val850del"
          },
          "RefSeq": {
            "hgvs": "NP_000333.1:p.Val850del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2706,
          "referenceAllele": "TGG",
          "start": 2703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "ENST00000262418.10:c.2548_2550del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262418.6:p.Val850del",
        "hgvsWellDefined": "ENSP00000262418.6:p.Val850del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1601,
          "referenceAllele": "TGG",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "ENST00000399246.3:c.1450_1452del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382190.3:p.Val484del",
        "hgvsWellDefined": "ENSP00000382190.3:p.Val484del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127398",
      "coordinates": [
        {
          "allele": "",
          "end": 2699,
          "referenceAllele": "TGG",
          "start": 2696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "NM_000342.3:c.2548_2550del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000333.1:p.Val850del",
        "hgvsWellDefined": "NP_000333.1:p.Val850del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006405"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2473,
          "referenceAllele": "TGG",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_005257593.3:c.2353_2355del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257650.1:p.Val785del",
        "hgvsWellDefined": "XP_005257650.1:p.Val785del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061764"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2636,
          "referenceAllele": "TGG",
          "start": 2633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525129.1:c.2458_2460del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523431.1:p.Val820del",
        "hgvsWellDefined": "XP_011523431.1:p.Val820del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092248"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2467,
          "referenceAllele": "TGG",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_005257593.5:c.2353_2355del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257650.1:p.Val785del",
        "hgvsWellDefined": "XP_005257650.1:p.Val785del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534688"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2636,
          "referenceAllele": "TGG",
          "start": 2633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525129.2:c.2458_2460del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523431.1:p.Val820del",
        "hgvsWellDefined": "XP_011523431.1:p.Val820del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127398",
      "coordinates": [
        {
          "allele": "",
          "end": 2700,
          "referenceAllele": "TGG",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "NM_000342.4:c.2548_2550del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000333.1:p.Val850del",
        "hgvsWellDefined": "NP_000333.1:p.Val850del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662408",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262418.12:c.2548_2550del"
          },
          "RefSeq": {
            "hgvs": "NM_000342.4:c.2548_2550del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262418.6:p.Val850del"
          },
          "RefSeq": {
            "hgvs": "NP_000333.1:p.Val850del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}