{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386299313",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.1955T>G (p.Leu652Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=956734[alleleid]",
        "alleleId": 956734,
        "preferredName": "NM_024312.5(GNPTAB):c.1955T>G (p.Leu652Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/967739",
        "RCV": [
          "RCV001242723"
        ],
        "variationId": 967739
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102158740A>C?assembly=hg19",
        "id": "chr12:g.102158740A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101764962A>C?assembly=hg38",
        "id": "chr12:g.101764962A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1953064841",
        "rs": 1953064841
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-101764962-A-C?dataset=gnomad_r4",
        "id": "12-101764962-A-C",
        "variant": "12:101764962 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 101764962,
          "referenceAllele": "A",
          "start": 101764961
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101764962A>C",
        "CM000674.2:g.101764962A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 102158740,
          "referenceAllele": "A",
          "start": 102158739
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102158740A>C",
        "CM000674.1:g.102158740A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 100682871,
          "referenceAllele": "A",
          "start": 100682870
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100682871A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 70906,
          "referenceAllele": "T",
          "start": 70905
        }
      ],
      "hgvs": [
        "NG_021243.1:g.70906T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2239,
          "referenceAllele": "T",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.1955T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Leu652Ter",
        "hgvsWellDefined": "ENSP00000299314.7:p.Leu652_Val1256delinsValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.1955T>G"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.1955T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Leu652Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Leu652Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2218,
          "referenceAllele": "T",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.1955T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Leu652Ter",
        "hgvsWellDefined": "ENSP00000299314.7:p.Leu652_Val1256delinsValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139745731",
      "coordinates": [
        {
          "allele": "G",
          "end": 2147,
          "referenceAllele": "T",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.1955T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Leu652Ter",
        "hgvsWellDefined": "NP_077288.2:p.Leu652_Val1256delinsValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2142,
          "referenceAllele": "T",
          "start": 2141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.2:c.1955T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Leu652Ter",
        "hgvsWellDefined": "XP_006719656.1:p.Leu652_Asp1179delinsValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgIleSerLeuCysCysProSerTrpAsnAlaValMetGlnThrTrpLeuThrValAlaSerThrSerTrpAlaGlnAlaIleLeuProProGlnProProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2688,
          "referenceAllele": "T",
          "start": 2687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.1:c.1874T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Leu625Ter",
        "hgvsWellDefined": "XP_011537033.1:p.Leu625_Val1229delinsValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2098,
          "referenceAllele": "T",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.3:c.1955T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Leu652Ter",
        "hgvsWellDefined": "XP_006719656.1:p.Leu652_Asp1179delinsValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgIleSerLeuCysCysProSerTrpAsnAlaValMetGlnThrTrpLeuThrValAlaSerThrSerTrpAlaGlnAlaIleLeuProProGlnProProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2143,
          "referenceAllele": "T",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.2:c.1874T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Leu625Ter",
        "hgvsWellDefined": "XP_011537033.1:p.Leu625_Val1229delinsValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2044,
          "referenceAllele": "T",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.1739T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:p.Leu580Ter",
        "hgvsWellDefined": "XP_016875450.1:p.Leu580_Val1184delinsValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2221,
          "referenceAllele": "T",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.728T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:p.Leu243Ter",
        "hgvsWellDefined": "XP_016875451.1:p.Leu243_Val847delinsValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139745731",
      "coordinates": [
        {
          "allele": "G",
          "end": 2239,
          "referenceAllele": "T",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.1955T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Leu652Ter",
        "hgvsWellDefined": "NP_077288.2:p.Leu652_Val1256delinsValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.1955T>G"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.1955T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Leu652Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Leu652Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}