{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042592",
  "communityStandardTitle": [
    "NM_015570.4(AUTS2):c.1298del (p.Leu433ProfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359665[alleleid]",
        "alleleId": 359665,
        "preferredName": "NM_015570.4(AUTS2):c.1298del (p.Leu433fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373078",
        "RCV": [
          "RCV000413601",
          "RCV001706624"
        ],
        "variationId": 373078
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.70229821del?assembly=hg19",
        "id": "chr7:g.70229821del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.70764835del?assembly=hg38",
        "id": "chr7:g.70764835del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518198",
        "rs": 1057518198
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 70764835,
          "referenceAllele": "T",
          "start": 70764834
        }
      ],
      "hgvs": [
        "NC_000007.14:g.70764835del",
        "CM000669.2:g.70764835del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 70229821,
          "referenceAllele": "T",
          "start": 70229820
        }
      ],
      "hgvs": [
        "NC_000007.13:g.70229821del",
        "CM000669.1:g.70229821del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 69867757,
          "referenceAllele": "T",
          "start": 69867756
        }
      ],
      "hgvs": [
        "NC_000007.12:g.69867757del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1170917,
          "referenceAllele": "T",
          "start": 1170916
        }
      ],
      "hgvs": [
        "NG_034133.1:g.1170917del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005765"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2477,
          "referenceAllele": "T",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "ENST00000342771.10:c.1298del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344087.4:p.Leu433ProfsTer?",
        "hgvsWellDefined": "ENSP00000344087.4:p.[Leu433_Leu435delinsProProCys;Asn437_Ser439delinsThrThrAla;Leu441_Thr445delinsCysThrAlaSerHis;Thr447_Gln449delinsProSerSer;Ala452del;Ser454Thr;His456_Ala461delinsIleThrProIleCysLeu;Pro462_Pro463insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748092",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342771.10:c.1298del"
          },
          "RefSeq": {
            "hgvs": "NM_015570.4:c.1298del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344087.4:p.Leu433ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_056385.1:p.Leu433ProfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 311,
          "endIntronDirection": "-",
          "endIntronOffset": 1278,
          "referenceAllele": "T",
          "start": 311,
          "startIntronDirection": "-",
          "startIntronOffset": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "ENST00000443672.2:c.-197-1279del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393548.2:n.-197-1279del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755958"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1593,
          "referenceAllele": "T",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "ENST00000644359.1:c.-77del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494561.1:n.-77del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767779"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1320,
          "referenceAllele": "T",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "ENST00000644506.1:c.-77del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496672.1:n.-77del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767849"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2653,
          "referenceAllele": "T",
          "start": 2652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "ENST00000644939.1:c.1295del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496726.1:p.Leu432ProfsTer?",
        "hgvsWellDefined": "ENSP00000496726.1:p.[Leu432_Leu434delinsProProCys;Asn436_Ser438delinsThrThrAla;Leu440_Thr444delinsCysThrAlaSerHis;Thr446_Gln448delinsProSerSer;Ala451del;Ser453Thr;His455_Ala460delinsIleThrProIleCysLeu;Pro461_Pro462insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768085"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 142,
          "referenceAllele": "T",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "ENST00000647140.1:c.142del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769258"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 683,
          "referenceAllele": "T",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "ENST00000656200.1:c.-77del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499508.1:n.-77del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772525"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1619,
          "referenceAllele": "T",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "ENST00000342771.8:c.1298del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344087.4:p.Leu433ProfsTer?",
        "hgvsWellDefined": "ENSP00000344087.4:p.[Leu433_Leu435delinsProProCys;Asn437_Ser439delinsThrThrAla;Leu441_Thr445delinsCysThrAlaSerHis;Thr447_Gln449delinsProSerSer;Ala452del;Ser454Thr;His456_Ala461delinsIleThrProIleCysLeu;Pro462_Pro463insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261629"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2033,
          "referenceAllele": "T",
          "start": 2032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "ENST00000406775.6:c.1298del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385263.2:p.Leu433ProfsTer?",
        "hgvsWellDefined": "ENSP00000385263.2:p.[Leu433_Leu435delinsProProCys;Asn437_Ser439delinsThrThrAla;Leu441_Thr445delinsCysThrAlaSerHis;Thr447_Gln449delinsProSerSer;Ala452del;Ser454Thr;His456_Ala461delinsIleThrProIleCysLeu;Pro462_Pro463insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280733"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 610,
          "referenceAllele": "T",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "ENST00000611706.4:c.554del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478134.1:p.Leu185ProfsTer?",
        "hgvsWellDefined": "ENSP00000478134.1:p.[Leu185_Leu187delinsProProCys;Asn189_Ser191delinsThrThrAla;Leu193_Thr197delinsCysThrAlaSerHis;Thr199_Gln201delinsProSerSer;Ala204del;Ser206Thr;His208_Ala213delinsIleThrProIleCysLeu;Pro214_Pro215insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400975"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 610,
          "referenceAllele": "T",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "ENST00000615871.4:c.554del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479325.1:p.Leu185ProfsTer?",
        "hgvsWellDefined": "ENSP00000479325.1:p.[Leu185_Leu187delinsProProCys;Asn189_Ser191delinsThrThrAla;Leu193_Thr197delinsCysThrAlaSerHis;Thr199_Gln201delinsProSerSer;Ala204del;Ser206Thr;His208_Ala213delinsIleThrProIleCysLeu;Pro214_Pro215insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402798"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2033,
          "referenceAllele": "T",
          "start": 2032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "NM_001127231.2:c.1298del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120703.1:p.Leu433ProfsTer?",
        "hgvsWellDefined": "NP_001120703.1:p.[Leu433_Leu435delinsProProCys;Asn437_Ser439delinsThrThrAla;Leu441_Thr445delinsCysThrAlaSerHis;Thr447_Gln449delinsProSerSer;Ala452del;Ser454Thr;His456_Ala461delinsIleThrProIleCysLeu;Pro462_Pro463insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011563"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2033,
          "referenceAllele": "T",
          "start": 2032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "NM_015570.3:c.1298del"
      ],
      "proteinEffect": {
        "hgvs": "NP_056385.1:p.Leu433ProfsTer?",
        "hgvsWellDefined": "NP_056385.1:p.[Leu433_Leu435delinsProProCys;Asn437_Ser439delinsThrThrAla;Leu441_Thr445delinsCysThrAlaSerHis;Thr447_Gln449delinsProSerSer;Ala452del;Ser454Thr;His456_Ala461delinsIleThrProIleCysLeu;Pro462_Pro463insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034119"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 86,
          "referenceAllele": "T",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_005250257.1:c.-77del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250314.1:n.-77del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059129"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2477,
          "referenceAllele": "T",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_011516010.1:c.1298del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514312.1:p.Leu433ProfsTer?",
        "hgvsWellDefined": "XP_011514312.1:p.[Leu433_Leu435delinsProProCys;Asn437_Ser439delinsThrThrAla;Leu441_Thr445delinsCysThrAlaSerHis;Thr447_Gln449delinsProSerSer;Ala452del;Ser454Thr;His456_Ala461delinsIleThrProIleCysLeu;Pro462_Pro463insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083217"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2474,
          "referenceAllele": "T",
          "start": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_011516011.1:c.1295del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514313.1:p.Leu432ProfsTer?",
        "hgvsWellDefined": "XP_011514313.1:p.[Leu432_Leu434delinsProProCys;Asn436_Ser438delinsThrThrAla;Leu440_Thr444delinsCysThrAlaSerHis;Thr446_Gln448delinsProSerSer;Ala451del;Ser453Thr;His455_Ala460delinsIleThrProIleCysLeu;Pro461_Pro462insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083218"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2477,
          "referenceAllele": "T",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_011516012.1:c.1298del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514314.1:p.Leu433ProfsTer?",
        "hgvsWellDefined": "XP_011514314.1:p.[Leu433_Leu435delinsProProCys;Asn437_Ser439delinsThrThrAla;Leu441_Thr445delinsCysThrAlaSerHis;Thr447_Gln449delinsProSerSer;Ala452del;Ser454Thr;His456_Ala461delinsIleThrProIleCysLeu;Pro462_Pro463insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083219"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2477,
          "referenceAllele": "T",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_011516013.1:c.1298del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514315.1:p.Leu433ProfsTer?",
        "hgvsWellDefined": "XP_011514315.1:p.[Leu433_Leu435delinsProProCys;Asn437_Ser439delinsThrThrAla;Leu441_Thr445delinsCysThrAlaSerHis;Thr447_Gln449delinsProSerSer;Ala452del;Ser454Thr;His456_Ala461delinsIleThrProIleCysLeu;Pro462_Pro463insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083220"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2477,
          "referenceAllele": "T",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_011516014.1:c.1298del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514316.1:p.Leu433ProfsTer?",
        "hgvsWellDefined": "XP_011514316.1:p.[Leu433_Leu435delinsProProCys;Asn437_Ser439delinsThrThrAla;Leu441_Thr445delinsCysThrAlaSerHis;Thr447_Gln449delinsProSerSer;Ala452del;Ser454Thr;His456_Ala461delinsIleThrProIleCysLeu;Pro462_Pro463insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083221"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2477,
          "referenceAllele": "T",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_011516015.1:c.1298del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514317.1:p.Leu433ProfsTer?",
        "hgvsWellDefined": "XP_011514317.1:p.[Leu433_Leu435delinsProProCys;Asn437_Ser439delinsThrThrAla;Leu441_Thr445delinsCysThrAlaSerHis;Thr447_Gln449delinsProSerSer;Ala452del;Ser454Thr;His456_Ala461delinsIleThrProIleCysLeu;Pro462_Pro463insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083222"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1020,
          "referenceAllele": "T",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_011516016.1:c.1007del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514318.1:p.Leu336ProfsTer?",
        "hgvsWellDefined": "XP_011514318.1:p.[Leu336_Leu338delinsProProCys;Asn340_Ser342delinsThrThrAla;Leu344_Thr348delinsCysThrAlaSerHis;Thr350_Gln352delinsProSerSer;Ala355del;Ser357Thr;His359_Ala364delinsIleThrProIleCysLeu;Pro365_Pro366insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083223"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1071,
          "referenceAllele": "T",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_011516017.1:c.824del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514319.1:p.Leu275ProfsTer?",
        "hgvsWellDefined": "XP_011514319.1:p.[Leu275_Leu277delinsProProCys;Asn279_Ser281delinsThrThrAla;Leu283_Thr287delinsCysThrAlaSerHis;Thr289_Gln291delinsProSerSer;Ala294del;Ser296Thr;His298_Ala303delinsIleThrProIleCysLeu;Pro304_Pro305insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083224"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1012,
          "referenceAllele": "T",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_011516018.1:c.797del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514320.1:p.Leu266ProfsTer?",
        "hgvsWellDefined": "XP_011514320.1:p.[Leu266_Leu268delinsProProCys;Asn270_Ser272delinsThrThrAla;Leu274_Thr278delinsCysThrAlaSerHis;Thr280_Gln282delinsProSerSer;Ala285del;Ser287Thr;His289_Ala294delinsIleThrProIleCysLeu;Pro295_Pro296insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083225"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 86,
          "referenceAllele": "T",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_005250257.2:c.-77del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250314.1:n.-77del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533413"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2477,
          "referenceAllele": "T",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_011516010.2:c.1298del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514312.1:p.Leu433ProfsTer?",
        "hgvsWellDefined": "XP_011514312.1:p.[Leu433_Leu435delinsProProCys;Asn437_Ser439delinsThrThrAla;Leu441_Thr445delinsCysThrAlaSerHis;Thr447_Gln449delinsProSerSer;Ala452del;Ser454Thr;His456_Ala461delinsIleThrProIleCysLeu;Pro462_Pro463insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543982"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2474,
          "referenceAllele": "T",
          "start": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_011516011.2:c.1295del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514313.1:p.Leu432ProfsTer?",
        "hgvsWellDefined": "XP_011514313.1:p.[Leu432_Leu434delinsProProCys;Asn436_Ser438delinsThrThrAla;Leu440_Thr444delinsCysThrAlaSerHis;Thr446_Gln448delinsProSerSer;Ala451del;Ser453Thr;His455_Ala460delinsIleThrProIleCysLeu;Pro461_Pro462insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543983"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2477,
          "referenceAllele": "T",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_011516012.2:c.1298del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514314.1:p.Leu433ProfsTer?",
        "hgvsWellDefined": "XP_011514314.1:p.[Leu433_Leu435delinsProProCys;Asn437_Ser439delinsThrThrAla;Leu441_Thr445delinsCysThrAlaSerHis;Thr447_Gln449delinsProSerSer;Ala452del;Ser454Thr;His456_Ala461delinsIleThrProIleCysLeu;Pro462_Pro463insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543984"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2477,
          "referenceAllele": "T",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_011516013.2:c.1298del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514315.1:p.Leu433ProfsTer?",
        "hgvsWellDefined": "XP_011514315.1:p.[Leu433_Leu435delinsProProCys;Asn437_Ser439delinsThrThrAla;Leu441_Thr445delinsCysThrAlaSerHis;Thr447_Gln449delinsProSerSer;Ala452del;Ser454Thr;His456_Ala461delinsIleThrProIleCysLeu;Pro462_Pro463insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543985"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2477,
          "referenceAllele": "T",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_011516014.2:c.1298del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514316.1:p.Leu433ProfsTer?",
        "hgvsWellDefined": "XP_011514316.1:p.[Leu433_Leu435delinsProProCys;Asn437_Ser439delinsThrThrAla;Leu441_Thr445delinsCysThrAlaSerHis;Thr447_Gln449delinsProSerSer;Ala452del;Ser454Thr;His456_Ala461delinsIleThrProIleCysLeu;Pro462_Pro463insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543986"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 11031,
          "referenceAllele": "T",
          "start": 11030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_011516017.2:c.824del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514319.1:p.Leu275ProfsTer?",
        "hgvsWellDefined": "XP_011514319.1:p.[Leu275_Leu277delinsProProCys;Asn279_Ser281delinsThrThrAla;Leu283_Thr287delinsCysThrAlaSerHis;Thr289_Gln291delinsProSerSer;Ala294del;Ser296Thr;His298_Ala303delinsIleThrProIleCysLeu;Pro304_Pro305insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543987"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1012,
          "referenceAllele": "T",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_011516018.2:c.797del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514320.1:p.Leu266ProfsTer?",
        "hgvsWellDefined": "XP_011514320.1:p.[Leu266_Leu268delinsProProCys;Asn270_Ser272delinsThrThrAla;Leu274_Thr278delinsCysThrAlaSerHis;Thr280_Gln282delinsProSerSer;Ala285del;Ser287Thr;His289_Ala294delinsIleThrProIleCysLeu;Pro295_Pro296insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543988"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2477,
          "referenceAllele": "T",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_017011951.2:c.1298del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867440.1:p.Leu433ProfsTer?",
        "hgvsWellDefined": "XP_016867440.1:p.[Leu433_Leu435delinsProProCys;Asn437_Ser439delinsThrThrAla;Leu441_Thr445delinsCysThrAlaSerHis;Thr447_Gln449delinsProSerSer;Ala452del;Ser454Thr;His456_Ala461delinsIleThrProIleCysLeu;Pro462_Pro463insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565677"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2477,
          "referenceAllele": "T",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "NM_001127231.3:c.1298del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120703.1:p.Leu433ProfsTer?",
        "hgvsWellDefined": "NP_001120703.1:p.[Leu433_Leu435delinsProProCys;Asn437_Ser439delinsThrThrAla;Leu441_Thr445delinsCysThrAlaSerHis;Thr447_Gln449delinsProSerSer;Ala452del;Ser454Thr;His456_Ala461delinsIleThrProIleCysLeu;Pro462_Pro463insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676859"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2477,
          "referenceAllele": "T",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "NM_015570.4:c.1298del"
      ],
      "proteinEffect": {
        "hgvs": "NP_056385.1:p.Leu433ProfsTer?",
        "hgvsWellDefined": "NP_056385.1:p.[Leu433_Leu435delinsProProCys;Asn437_Ser439delinsThrThrAla;Leu441_Thr445delinsCysThrAlaSerHis;Thr447_Gln449delinsProSerSer;Ala452del;Ser454Thr;His456_Ala461delinsIleThrProIleCysLeu;Pro462_Pro463insLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697572",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342771.10:c.1298del"
          },
          "RefSeq": {
            "hgvs": "NM_015570.4:c.1298del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344087.4:p.Leu433ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_056385.1:p.Leu433ProfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}