{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127383",
  "communityStandardTitle": [
    "NM_000342.4(SLC4A1):c.988C>T (p.Gln330Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32800[alleleid]",
        "alleleId": 32800,
        "preferredName": "NM_000342.3(SLC4A1):c.988C>T (p.Gln330Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17761",
        "RCV": [
          "RCV000019338"
        ],
        "variationId": 17761
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42335880G>A?assembly=hg19",
        "id": "chr17:g.42335880G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44258512G>A?assembly=hg38",
        "id": "chr17:g.44258512G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912742",
        "rs": 121912742
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 44258512,
          "referenceAllele": "G",
          "start": 44258511
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44258512G>A",
        "CM000679.2:g.44258512G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 42335880,
          "referenceAllele": "G",
          "start": 42335879
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42335880G>A",
        "CM000679.1:g.42335880G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 39691406,
          "referenceAllele": "G",
          "start": 39691405
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39691406G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14623,
          "referenceAllele": "C",
          "start": 14622
        }
      ],
      "hgvs": [
        "NG_007498.1:g.14623C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000620"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1138,
          "referenceAllele": "C",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "ENST00000262418.12:c.988C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262418.6:p.Gln330Ter",
        "hgvsWellDefined": "ENSP00000262418.6:p.Gln330_Val911delinsAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262418.12:c.988C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000342.4:c.988C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262418.6:p.Gln330Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000333.1:p.Gln330Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1144,
          "referenceAllele": "C",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "ENST00000262418.10:c.988C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262418.6:p.Gln330Ter",
        "hgvsWellDefined": "ENSP00000262418.6:p.Gln330_Val911delinsAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 926,
          "endIntronDirection": "+",
          "endIntronOffset": 750,
          "referenceAllele": "C",
          "start": 926,
          "startIntronDirection": "+",
          "startIntronOffset": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "ENST00000399246.3:c.777+750C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382190.3:n.777+750C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "referenceAllele": "C",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "ENST00000497360.5:n.1127C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127384",
      "coordinates": [
        {
          "allele": "T",
          "end": 1137,
          "referenceAllele": "C",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "NM_000342.3:c.988C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000333.1:p.Gln330Ter",
        "hgvsWellDefined": "NP_000333.1:p.Gln330_Val911delinsAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 911,
          "referenceAllele": "C",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_005257593.3:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257650.1:p.Gln265Ter",
        "hgvsWellDefined": "XP_005257650.1:p.Gln265_Val846delinsAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1164,
          "referenceAllele": "C",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525129.1:c.988C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523431.1:p.Gln330Ter",
        "hgvsWellDefined": "XP_011523431.1:p.Gln330_Val881delinsAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1164,
          "referenceAllele": "C",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525130.1:c.988C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523432.1:p.Gln330Ter",
        "hgvsWellDefined": "XP_011523432.1:p.Gln330_Gly788delinsAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValAlaProAspArgGlyLeuThrProHisTrpCysGlnAlaSerGlyAsnLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1164,
          "referenceAllele": "C",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525131.1:c.988C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523433.1:p.Gln330Ter",
        "hgvsWellDefined": "XP_011523433.1:p.Gln330_Gly692delinsAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrProSerTyrLeuGlyGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 905,
          "referenceAllele": "C",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_005257593.5:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257650.1:p.Gln265Ter",
        "hgvsWellDefined": "XP_005257650.1:p.Gln265_Val846delinsAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1164,
          "referenceAllele": "C",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525129.2:c.988C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523431.1:p.Gln330Ter",
        "hgvsWellDefined": "XP_011523431.1:p.Gln330_Val881delinsAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127384",
      "coordinates": [
        {
          "allele": "T",
          "end": 1138,
          "referenceAllele": "C",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "NM_000342.4:c.988C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000333.1:p.Gln330Ter",
        "hgvsWellDefined": "NP_000333.1:p.Gln330_Val911delinsAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662408",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262418.12:c.988C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000342.4:c.988C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262418.6:p.Gln330Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000333.1:p.Gln330Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}