{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386298779",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.2198C>A (p.Ser733Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=972170[alleleid]",
        "alleleId": 972170,
        "preferredName": "NM_024312.5(GNPTAB):c.2198C>A (p.Ser733Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/983861",
        "RCV": [
          "RCV001263864"
        ],
        "variationId": 983861
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102158497G>T?assembly=hg19",
        "id": "chr12:g.102158497G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101764719G>T?assembly=hg38",
        "id": "chr12:g.101764719G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1953059037",
        "rs": 1953059037
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101764719,
          "referenceAllele": "G",
          "start": 101764718
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101764719G>T",
        "CM000674.2:g.101764719G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102158497,
          "referenceAllele": "G",
          "start": 102158496
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102158497G>T",
        "CM000674.1:g.102158497G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 100682628,
          "referenceAllele": "G",
          "start": 100682627
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100682628G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 71149,
          "referenceAllele": "C",
          "start": 71148
        }
      ],
      "hgvs": [
        "NG_021243.1:g.71149C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2482,
          "referenceAllele": "C",
          "start": 2481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.2198C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Ser733Ter",
        "hgvsWellDefined": "ENSP00000299314.7:p.Ser733_Val1256delinsAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.2198C>A"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.2198C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Ser733Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Ser733Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2461,
          "referenceAllele": "C",
          "start": 2460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.2198C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Ser733Ter",
        "hgvsWellDefined": "ENSP00000299314.7:p.Ser733_Val1256delinsAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139745780",
      "coordinates": [
        {
          "allele": "A",
          "end": 2390,
          "referenceAllele": "C",
          "start": 2389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.2198C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Ser733Ter",
        "hgvsWellDefined": "NP_077288.2:p.Ser733_Val1256delinsAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2385,
          "referenceAllele": "C",
          "start": 2384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.2:c.2198C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Ser733Ter",
        "hgvsWellDefined": "XP_006719656.1:p.Ser733_Asp1179delinsAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgIleSerLeuCysCysProSerTrpAsnAlaValMetGlnThrTrpLeuThrValAlaSerThrSerTrpAlaGlnAlaIleLeuProProGlnProProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2931,
          "referenceAllele": "C",
          "start": 2930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.1:c.2117C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Ser706Ter",
        "hgvsWellDefined": "XP_011537033.1:p.Ser706_Val1229delinsAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2341,
          "referenceAllele": "C",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.3:c.2198C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Ser733Ter",
        "hgvsWellDefined": "XP_006719656.1:p.Ser733_Asp1179delinsAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgIleSerLeuCysCysProSerTrpAsnAlaValMetGlnThrTrpLeuThrValAlaSerThrSerTrpAlaGlnAlaIleLeuProProGlnProProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2386,
          "referenceAllele": "C",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.2:c.2117C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Ser706Ter",
        "hgvsWellDefined": "XP_011537033.1:p.Ser706_Val1229delinsAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2287,
          "referenceAllele": "C",
          "start": 2286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.1982C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:p.Ser661Ter",
        "hgvsWellDefined": "XP_016875450.1:p.Ser661_Val1184delinsAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2464,
          "referenceAllele": "C",
          "start": 2463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.971C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:p.Ser324Ter",
        "hgvsWellDefined": "XP_016875451.1:p.Ser324_Val847delinsAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139745780",
      "coordinates": [
        {
          "allele": "A",
          "end": 2482,
          "referenceAllele": "C",
          "start": 2481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.2198C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Ser733Ter",
        "hgvsWellDefined": "NP_077288.2:p.Ser733_Val1256delinsAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.2198C>A"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.2198C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Ser733Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Ser733Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}