{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA373863771",
  "communityStandardTitle": [
    "NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1061747[alleleid]",
        "alleleId": 1061747,
        "preferredName": "NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1069304",
        "RCV": [
          "RCV001381121",
          "RCV002493921"
        ],
        "variationId": 1069304
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.79981692C>G?assembly=hg19",
        "id": "chr9:g.79981692C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.77366776C>G?assembly=hg38",
        "id": "chr9:g.77366776C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/756865623",
        "rs": 756865623
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-79981692-C-G?dataset=gnomad_r2_1",
        "id": "9-79981692-C-G",
        "variant": "9:79981692 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-77366776-C-G?dataset=gnomad_r4",
        "id": "9-77366776-C-G",
        "variant": "9:77366776 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 77366776,
          "referenceAllele": "C",
          "start": 77366775
        }
      ],
      "hgvs": [
        "NC_000009.12:g.77366776C>G",
        "CM000671.2:g.77366776C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 79981692,
          "referenceAllele": "C",
          "start": 79981691
        }
      ],
      "hgvs": [
        "NC_000009.11:g.79981692C>G",
        "CM000671.1:g.79981692C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 79171512,
          "referenceAllele": "C",
          "start": 79171511
        }
      ],
      "hgvs": [
        "NC_000009.10:g.79171512C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 194332,
          "referenceAllele": "C",
          "start": 194331
        }
      ],
      "hgvs": [
        "NG_008931.1:g.194332C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001309"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8546,
          "referenceAllele": "C",
          "start": 8545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "ENST00000360280.8:c.8375C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353422.3:p.Ser2792Ter",
        "hgvsWellDefined": "ENSP00000353422.3:p.Ser2792_Leu3174delinsLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360280.8:c.8375C>G"
          },
          "RefSeq": {
            "hgvs": "NM_033305.3:c.8375C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353422.3:p.Ser2792Ter"
          },
          "RefSeq": {
            "hgvs": "NP_150648.2:p.Ser2792Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8544,
          "referenceAllele": "C",
          "start": 8543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "ENST00000643348.1:c.8375C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493592.1:p.Ser2792Ter",
        "hgvsWellDefined": "ENSP00000493592.1:p.Ser2792_His3095delinsLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnLysIleGlnPheTyrArgGluTrpIleMetThrHisSerSerSerSerAspAspAspAspAspAspAspAspAspAspGluSerAspLeuAsnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8544,
          "referenceAllele": "C",
          "start": 8543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "ENST00000645632.1:c.8375C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496361.1:p.Ser2792Ter",
        "hgvsWellDefined": "ENSP00000496361.1:p.Ser2792_Ile3069delinsLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnAlaSerLysSerLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8546,
          "referenceAllele": "C",
          "start": 8545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "ENST00000357409.9:c.8375C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349985.5:p.Ser2792Ter",
        "hgvsWellDefined": "ENSP00000349985.5:p.Ser2792_His3095delinsLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnLysIleGlnPheTyrArgGluTrpIleMetThrHisSerSerSerSerAspAspAspAspAspAspAspAspAspAspGluSerAspLeuAsnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264092"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8635,
          "referenceAllele": "C",
          "start": 8634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "ENST00000360280.7:c.8375C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353422.3:p.Ser2792Ter",
        "hgvsWellDefined": "ENSP00000353422.3:p.Ser2792_Leu3174delinsLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265076"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8727,
          "referenceAllele": "C",
          "start": 8726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "ENST00000376634.8:c.8375C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365821.4:p.Ser2792Ter",
        "hgvsWellDefined": "ENSP00000365821.4:p.Ser2792_Ile3069delinsLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnAlaSerLysSerLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271249"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8518,
          "referenceAllele": "C",
          "start": 8517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "ENST00000376636.7:c.8258C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365823.3:p.Ser2753Ter",
        "hgvsWellDefined": "ENSP00000365823.3:p.Ser2753_Leu3135delinsLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271250"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825323507",
      "coordinates": [
        {
          "allele": "G",
          "end": 8518,
          "referenceAllele": "C",
          "start": 8517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NM_001018037.1:c.8258C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018047.1:p.Ser2753Ter",
        "hgvsWellDefined": "NP_001018047.1:p.Ser2753_Leu3135delinsLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825325083",
      "coordinates": [
        {
          "allele": "G",
          "end": 8635,
          "referenceAllele": "C",
          "start": 8634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NM_001018038.2:c.8375C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018048.1:p.Ser2792Ter",
        "hgvsWellDefined": "NP_001018048.1:p.Ser2792_Ile3069delinsLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnAlaSerLysSerLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829812979",
      "coordinates": [
        {
          "allele": "G",
          "end": 8635,
          "referenceAllele": "C",
          "start": 8634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NM_015186.3:c.8375C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056001.1:p.Ser2792Ter",
        "hgvsWellDefined": "NP_056001.1:p.Ser2792_His3095delinsLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnLysIleGlnPheTyrArgGluTrpIleMetThrHisSerSerSerSerAspAspAspAspAspAspAspAspAspAspGluSerAspLeuAsnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499294834",
      "coordinates": [
        {
          "allele": "G",
          "end": 8635,
          "referenceAllele": "C",
          "start": 8634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NM_033305.2:c.8375C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_150648.2:p.Ser2792Ter",
        "hgvsWellDefined": "NP_150648.2:p.Ser2792_Leu3174delinsLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039669"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8727,
          "referenceAllele": "C",
          "start": 8726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "XR_242579.2:n.8727C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116307"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8727,
          "referenceAllele": "C",
          "start": 8726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "XR_242580.3:n.8727C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8727,
          "referenceAllele": "C",
          "start": 8726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "XR_929740.1:n.8727C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8727,
          "referenceAllele": "C",
          "start": 8726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "XR_001746259.1:n.8727C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8727,
          "referenceAllele": "C",
          "start": 8726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "XR_001746260.1:n.8727C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499294834",
      "coordinates": [
        {
          "allele": "G",
          "end": 8546,
          "referenceAllele": "C",
          "start": 8545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NM_033305.3:c.8375C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_150648.2:p.Ser2792Ter",
        "hgvsWellDefined": "NP_150648.2:p.Ser2792_Leu3174delinsLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671547",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360280.8:c.8375C>G"
          },
          "RefSeq": {
            "hgvs": "NM_033305.3:c.8375C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353422.3:p.Ser2792Ter"
          },
          "RefSeq": {
            "hgvs": "NP_150648.2:p.Ser2792Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825323507",
      "coordinates": [
        {
          "allele": "G",
          "end": 8429,
          "referenceAllele": "C",
          "start": 8428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NM_001018037.2:c.8258C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018047.1:p.Ser2753Ter",
        "hgvsWellDefined": "NP_001018047.1:p.Ser2753_Leu3135delinsLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675578"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825325083",
      "coordinates": [
        {
          "allele": "G",
          "end": 8546,
          "referenceAllele": "C",
          "start": 8545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NM_001018038.3:c.8375C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018048.1:p.Ser2792Ter",
        "hgvsWellDefined": "NP_001018048.1:p.Ser2792_Ile3069delinsLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnAlaSerLysSerLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829812979",
      "coordinates": [
        {
          "allele": "G",
          "end": 8546,
          "referenceAllele": "C",
          "start": 8545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NM_015186.4:c.8375C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056001.1:p.Ser2792Ter",
        "hgvsWellDefined": "NP_056001.1:p.Ser2792_His3095delinsLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnLysIleGlnPheTyrArgGluTrpIleMetThrHisSerSerSerSerAspAspAspAspAspAspAspAspAspAspGluSerAspLeuAsnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728041"
    }
  ],
  "type": "nucleotide"
}