{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043121",
  "communityStandardTitle": [
    "NM_000342.4(SLC4A1):c.569_579del (p.Pro190LeufsTer9)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360449[alleleid]",
        "alleleId": 360449,
        "preferredName": "NM_000342.4(SLC4A1):c.569_579del (p.Pro190fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373108",
        "RCV": [
          "RCV000413863"
        ],
        "variationId": 373108
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42337207_42337217del?assembly=hg19",
        "id": "chr17:g.42337207_42337217del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44259839_44259849del?assembly=hg38",
        "id": "chr17:g.44259839_44259849del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518222",
        "rs": 1057518222
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 44259853,
          "referenceAllele": "TGTTGGGGGAG",
          "start": 44259842
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44259843_44259853del",
        "CM000679.2:g.44259843_44259853del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 42337221,
          "referenceAllele": "TGTTGGGGGAG",
          "start": 42337210
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42337211_42337221del",
        "CM000679.1:g.42337211_42337221del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 39692747,
          "referenceAllele": "TGTTGGGGGAG",
          "start": 39692736
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39692737_39692747del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13296,
          "referenceAllele": "ACACTCCCCCA",
          "start": 13285
        }
      ],
      "hgvs": [
        "NG_007498.1:g.13286_13296del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000620"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 729,
          "referenceAllele": "ACACTCCCCCA",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "ENST00000262418.12:c.569_579del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262418.6:p.Pro190LeufsTer9",
        "hgvsWellDefined": "ENSP00000262418.6:p.[Pro190_Ser194del;Glu196del;Gln198_Gln203del;Gly206_Gly207del;Glu209_Ile216delinsAlaLeu;Glu218_Asp223del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262418.12:c.569_579del"
          },
          "RefSeq": {
            "hgvs": "NM_000342.4:c.569_579del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262418.6:p.Pro190LeufsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_000333.1:p.Pro190LeufsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 735,
          "referenceAllele": "ACACTCCCCCA",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "ENST00000262418.10:c.569_579del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262418.6:p.Pro190LeufsTer9",
        "hgvsWellDefined": "ENSP00000262418.6:p.[Pro190_Ser194del;Glu196del;Gln198_Gln203del;Gly206_Gly207del;Glu209_Ile216delinsAlaLeu;Glu218_Asp223del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 728,
          "referenceAllele": "ACACTCCCCCA",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "ENST00000399246.3:c.569_579del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382190.3:p.Pro190LeufsTer9",
        "hgvsWellDefined": "ENSP00000382190.3:p.[Pro190_Ser194del;Glu196del;Gln198_Gln203del;Gly206_Gly207del;Glu209_Ile216delinsAlaLeu;Glu218_Asp223del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278610"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 718,
          "referenceAllele": "ACACTCCCCCA",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "ENST00000497360.5:n.708_718del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333615"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 728,
          "referenceAllele": "ACACTCCCCCA",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "NM_000342.3:c.569_579del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000333.1:p.Pro190LeufsTer9",
        "hgvsWellDefined": "NP_000333.1:p.[Pro190_Ser194del;Glu196del;Gln198_Gln203del;Gly206_Gly207del;Glu209_Ile216delinsAlaLeu;Glu218_Asp223del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006405"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 502,
          "referenceAllele": "ACACTCCCCCA",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_005257593.3:c.374_384del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257650.1:p.Pro125LeufsTer9",
        "hgvsWellDefined": "XP_005257650.1:p.[Pro125_Ser129del;Glu131del;Gln133_Gln138del;Gly141_Gly142del;Glu144_Ile151delinsAlaLeu;Glu153_Asp158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061764"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 755,
          "referenceAllele": "ACACTCCCCCA",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525129.1:c.569_579del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523431.1:p.Pro190LeufsTer9",
        "hgvsWellDefined": "XP_011523431.1:p.[Pro190_Ser194del;Glu196del;Gln198_Gln203del;Gly206_Gly207del;Glu209_Ile216delinsAlaLeu;Glu218_Asp223del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092248"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 755,
          "referenceAllele": "ACACTCCCCCA",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525130.1:c.569_579del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523432.1:p.Pro190LeufsTer9",
        "hgvsWellDefined": "XP_011523432.1:p.[Pro190_Ser194del;Glu196del;Gln198_Gln203del;Gly206_Gly207del;Glu209_Ile216delinsAlaLeu;Glu218_Asp223del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092249"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 755,
          "referenceAllele": "ACACTCCCCCA",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525131.1:c.569_579del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523433.1:p.Pro190LeufsTer9",
        "hgvsWellDefined": "XP_011523433.1:p.[Pro190_Ser194del;Glu196del;Gln198_Gln203del;Gly206_Gly207del;Glu209_Ile216delinsAlaLeu;Glu218_Asp223del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092250"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 496,
          "referenceAllele": "ACACTCCCCCA",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_005257593.5:c.374_384del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257650.1:p.Pro125LeufsTer9",
        "hgvsWellDefined": "XP_005257650.1:p.[Pro125_Ser129del;Glu131del;Gln133_Gln138del;Gly141_Gly142del;Glu144_Ile151delinsAlaLeu;Glu153_Asp158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534688"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 755,
          "referenceAllele": "ACACTCCCCCA",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525129.2:c.569_579del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523431.1:p.Pro190LeufsTer9",
        "hgvsWellDefined": "XP_011523431.1:p.[Pro190_Ser194del;Glu196del;Gln198_Gln203del;Gly206_Gly207del;Glu209_Ile216delinsAlaLeu;Glu218_Asp223del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547749"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 729,
          "referenceAllele": "ACACTCCCCCA",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "NM_000342.4:c.569_579del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000333.1:p.Pro190LeufsTer9",
        "hgvsWellDefined": "NP_000333.1:p.[Pro190_Ser194del;Glu196del;Gln198_Gln203del;Gly206_Gly207del;Glu209_Ile216delinsAlaLeu;Glu218_Asp223del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662408",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262418.12:c.569_579del"
          },
          "RefSeq": {
            "hgvs": "NM_000342.4:c.569_579del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262418.6:p.Pro190LeufsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_000333.1:p.Pro190LeufsTer9"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}