{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10588825", "communityStandardTitle": [ "NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1066710", "active": true, "id": "COSM1066710" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=260472[alleleid]", "alleleId": 260472, "preferredName": "NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265782", "RCV": [ "RCV000256198", "RCV001062487" ], "variationId": 265782 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.179250038C>T?assembly=hg19", "id": "chr5:g.179250038C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.179823038C>T?assembly=hg38", "id": "chr5:g.179823038C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886039782", "rs": 886039782 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-179823038-C-T?dataset=gnomad_r3", "id": "5-179823038-C-T", "variant": "5:179823038 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-179823038-C-T?dataset=gnomad_r4", "id": "5-179823038-C-T", "variant": "5:179823038 C / T" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 179823038, "referenceAllele": "C", "start": 179823037 } ], "hgvs": [ "NC_000005.10:g.179823038C>T", "CM000667.2:g.179823038C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 179250038, "referenceAllele": "C", "start": 179250037 } ], "hgvs": [ "NC_000005.9:g.179250038C>T", "CM000667.1:g.179250038C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 179182644, "referenceAllele": "C", "start": 179182643 } ], "hgvs": [ "NC_000005.8:g.179182644C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 21651, "referenceAllele": "C", "start": 21650 } ], "hgvs": [ "NG_011342.1:g.21651C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001707" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN011280", "geneNCBI_id": 8878, "geneSymbol": "SQSTM1", "hgvs": [ "ENST00000389805.9:c.286C>T" ], "proteinEffect": { "hgvs": "ENSP00000374455.4:p.Arg96Ter", "hgvsWellDefined": "ENSP00000374455.4:p.Arg96_Leu440delinsIleTyrIleLysGluLysLysGluCysArgArgAspHisArgProProCysAlaGlnGluAlaProArgAsnMetValHisProAsnValIleCysAspGlyCysAsnGlyProValValGlyThrArgTyrLysCysSerValCysProAspTyrAspLeuCysSerValCysGluGlyLysGlyLeuHisArgGlyHisThrLysLeuAlaPheProSerProPheGlyHisLeuSerGluGlyPheSerHisSerArgTrpLeuArgLysValLysHisGlyHisPheGlyTrpProGlyTrpGluMetGlyProProGlyAsnTrpSerProArgProProArgAlaGlyGluAlaArgProGlyProThrAlaGluSerAlaSerGlyProSerGluAspProSerValAsnPheLeuLysAsnValGlyGluSerValAlaAlaAlaLeuSerProLeuGlyIleGluValAspIleAspValGluHisGlyGlyLysArgSerArgLeuThrProValSerProGluSerSerSerThrGluGluLysSerSerSerGlnProSerSerCysCysSerAspProSerLysProGlyGlyAsnValGluGlyAlaThrGlnSerLeuAlaGluGlnMetArgLysIleAlaLeuGluSerGluGlyArgProGluGluGlnMetGluSerAspAsnCysSerGlyGlyAspAspAspTrpThrHisLeuSerSerLysGluValAspProSerThrGlyGluLeuGlnSerLeuGlnMetProGluSerGluGlyProSerSerLeuAspProSerGlnGluGlyProThrGlyLeuLysGluAlaAlaLeuTyrProHisLeuProProGluAlaAspProArgLeuIleGluSerLeuSerGlnMetLeuSerMetGlyPheSerAspGluGlyGlyTrpLeuThrArgLeuLeuGlnThrLysAsnTyrAspIleGlyAlaAlaLeuAspThrIleGlnTyrSerLysHisProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752842", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389805.9:c.286C>T" }, "RefSeq": { "hgvs": "NM_003900.5:c.286C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374455.4:p.Arg96Ter" }, "RefSeq": { "hgvs": "NP_003891.1:p.Arg96Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 554, "referenceAllele": "C", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN011280", "geneNCBI_id": 8878, "geneSymbol": "SQSTM1", "hgvs": [ "ENST00000360718.5:c.34C>T" ], "proteinEffect": { "hgvs": "ENSP00000353944.5:p.Arg12Ter", "hgvsWellDefined": "ENSP00000353944.5:p.Arg12_Leu356delinsIleTyrIleLysGluLysLysGluCysArgArgAspHisArgProProCysAlaGlnGluAlaProArgAsnMetValHisProAsnValIleCysAspGlyCysAsnGlyProValValGlyThrArgTyrLysCysSerValCysProAspTyrAspLeuCysSerValCysGluGlyLysGlyLeuHisArgGlyHisThrLysLeuAlaPheProSerProPheGlyHisLeuSerGluGlyPheSerHisSerArgTrpLeuArgLysValLysHisGlyHisPheGlyTrpProGlyTrpGluMetGlyProProGlyAsnTrpSerProArgProProArgAlaGlyGluAlaArgProGlyProThrAlaGluSerAlaSerGlyProSerGluAspProSerValAsnPheLeuLysAsnValGlyGluSerValAlaAlaAlaLeuSerProLeuGlyIleGluValAspIleAspValGluHisGlyGlyLysArgSerArgLeuThrProValSerProGluSerSerSerThrGluGluLysSerSerSerGlnProSerSerCysCysSerAspProSerLysProGlyGlyAsnValGluGlyAlaThrGlnSerLeuAlaGluGlnMetArgLysIleAlaLeuGluSerGluGlyArgProGluGluGlnMetGluSerAspAsnCysSerGlyGlyAspAspAspTrpThrHisLeuSerSerLysGluValAspProSerThrGlyGluLeuGlnSerLeuGlnMetProGluSerGluGlyProSerSerLeuAspProSerGlnGluGlyProThrGlyLeuLysGluAlaAlaLeuTyrProHisLeuProProGluAlaAspProArgLeuIleGluSerLeuSerGlnMetLeuSerMetGlyPheSerAspGluGlyGlyTrpLeuThrArgLeuLeuGlnThrLysAsnTyrAspIleGlyAlaAlaLeuAspThrIleGlnTyrSerLysHisProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265227" }, { "coordinates": [ { "allele": "T", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN011280", "geneNCBI_id": 8878, "geneSymbol": "SQSTM1", "hgvs": [ "ENST00000389805.8:c.286C>T" ], "proteinEffect": { "hgvs": "ENSP00000374455.4:p.Arg96Ter", "hgvsWellDefined": "ENSP00000374455.4:p.Arg96_Leu440delinsIleTyrIleLysGluLysLysGluCysArgArgAspHisArgProProCysAlaGlnGluAlaProArgAsnMetValHisProAsnValIleCysAspGlyCysAsnGlyProValValGlyThrArgTyrLysCysSerValCysProAspTyrAspLeuCysSerValCysGluGlyLysGlyLeuHisArgGlyHisThrLysLeuAlaPheProSerProPheGlyHisLeuSerGluGlyPheSerHisSerArgTrpLeuArgLysValLysHisGlyHisPheGlyTrpProGlyTrpGluMetGlyProProGlyAsnTrpSerProArgProProArgAlaGlyGluAlaArgProGlyProThrAlaGluSerAlaSerGlyProSerGluAspProSerValAsnPheLeuLysAsnValGlyGluSerValAlaAlaAlaLeuSerProLeuGlyIleGluValAspIleAspValGluHisGlyGlyLysArgSerArgLeuThrProValSerProGluSerSerSerThrGluGluLysSerSerSerGlnProSerSerCysCysSerAspProSerLysProGlyGlyAsnValGluGlyAlaThrGlnSerLeuAlaGluGlnMetArgLysIleAlaLeuGluSerGluGlyArgProGluGluGlnMetGluSerAspAsnCysSerGlyGlyAspAspAspTrpThrHisLeuSerSerLysGluValAspProSerThrGlyGluLeuGlnSerLeuGlnMetProGluSerGluGlyProSerSerLeuAspProSerGlnGluGlyProThrGlyLeuLysGluAlaAlaLeuTyrProHisLeuProProGluAlaAspProArgLeuIleGluSerLeuSerGlnMetLeuSerMetGlyPheSerAspGluGlyGlyTrpLeuThrArgLeuLeuGlnThrLysAsnTyrAspIleGlyAlaAlaLeuAspThrIleGlnTyrSerLysHisProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274294" }, { "coordinates": [ { "allele": "T", "end": 241, "referenceAllele": "C", "start": 240 } ], "gene": "http://reg.genome.network/gene/GN011280", "geneNCBI_id": 8878, "geneSymbol": "SQSTM1", "hgvs": [ "ENST00000422245.5:c.34C>T" ], "proteinEffect": { "hgvs": "ENSP00000394534.1:p.Arg12Ter", "hgvsWellDefined": "ENSP00000394534.1:p.Arg12Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS287178" }, { "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "C", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN011280", "geneNCBI_id": 8878, "geneSymbol": "SQSTM1", "hgvs": [ "ENST00000453046.5:c.*221C>T" ], "proteinEffect": { "hgvs": "ENSP00000405061.1:n.*221C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS301912" }, { "coordinates": [ { "allele": "T", "end": 181, "referenceAllele": "C", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN011280", "geneNCBI_id": 8878, "geneSymbol": "SQSTM1", "hgvs": [ "ENST00000464493.5:n.181C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS308309" }, { "coordinates": [ { "allele": "T", "end": 436, "referenceAllele": "C", "start": 435 } ], "gene": "http://reg.genome.network/gene/GN011280", "geneNCBI_id": 8878, "geneSymbol": "SQSTM1", "hgvs": [ "ENST00000481335.5:n.436C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321273" }, { "coordinates": [ { "allele": "T", "end": 387, "referenceAllele": "C", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN011280", "geneNCBI_id": 8878, "geneSymbol": "SQSTM1", "hgvs": [ "ENST00000504627.1:c.355C>T" ], "proteinEffect": { "hgvs": "ENSP00000425957.1:p.Arg119Ter", "hgvsWellDefined": "ENSP00000425957.1:p.Arg119_Ala190del" }, "referenceSequence": "http://reg.genome.network/refseq/RS336635" }, { "coordinates": [ { "allele": "T", "end": 277, "referenceAllele": "C", "start": 276 } ], "gene": "http://reg.genome.network/gene/GN011280", "geneNCBI_id": 8878, "geneSymbol": "SQSTM1", "hgvs": [ "ENST00000508284.5:c.*8C>T" ], "proteinEffect": { "hgvs": "ENSP00000424195.1:n.*8C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS339344" }, { "coordinates": [ { "allele": "T", "end": 302, "referenceAllele": "C", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN011280", "geneNCBI_id": 8878, "geneSymbol": "SQSTM1", "hgvs": [ "ENST00000510187.5:c.286C>T" ], "proteinEffect": { "hgvs": "ENSP00000424477.1:p.Arg96Ter", "hgvsWellDefined": "ENSP00000424477.1:p.Arg96_Ala378delinsIleTyrIleLysGluLysLysGluCysArgArgAspHisArgProProCysAlaGlnGluAlaProArgAsnMetValHisProAsnValIleCysAspGlyCysAsnGlyProValValGlyThrArgTyrLysCysSerValCysProAspTyrAspLeuCysSerValCysGluGlyLysGlyLeuHisArgGlyHisThrLysLeuAlaPheProSerProPheGlyHisLeuSerGluGlyPheSerHisSerArgTrpLeuArgLysValLysHisGlyHisPheGlyTrpProGlyTrpGluMetGlyProProGlyAsnTrpSerProArgProProArgAlaGlyGluAlaArgProGlyProThrAlaGluSerAlaSerGlyProSerGluAspProSerValAsnPheLeuLysAsnValGlyGluSerValAlaAlaAlaLeuSerProLeuGlyIleGluValAspIleAspValGluHisGlyGlyLysArgSerArgLeuThrProValSerProGluSerSerSerThrGluGluLysSerSerSerGlnProSerSerCysCysSerAspProSerLysProGlyGlyAsnValGluGlyAlaThrGlnSerLeuAlaGluGlnMetArgLysIleAlaLeuGluCysCysProTrpAlaSerLeuMetLysAlaAlaGlySerProGlySerCysArgProArgThrMetThrSerGluArgLeuTrpThrProSerSerIleGlnSerIleProArgArgCysAspHisPheCysProProLeuLeuArgAlaProLeuLeuSerHisSerCysValLysLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS340767" }, { "coordinates": [ { "allele": "T", "end": 374, "referenceAllele": "C", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN011280", "geneNCBI_id": 8878, "geneSymbol": "SQSTM1", "hgvs": [ "ENST00000514093.5:c.34C>T" ], "proteinEffect": { "hgvs": "ENSP00000427308.1:p.Arg12Ter", "hgvsWellDefined": "ENSP00000427308.1:p.Arg12Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS343668" }, { "@id": "http://reg.genome.network/allele/PA2825841777", "coordinates": [ { "allele": "T", "end": 394, "referenceAllele": "C", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN011280", "geneNCBI_id": 8878, "geneSymbol": "SQSTM1", "hgvs": [ "NM_001142298.1:c.34C>T" ], "proteinEffect": { "hgvs": "NP_001135770.1:p.Arg12Ter", "hgvsWellDefined": "NP_001135770.1:p.Arg12_Leu356delinsIleTyrIleLysGluLysLysGluCysArgArgAspHisArgProProCysAlaGlnGluAlaProArgAsnMetValHisProAsnValIleCysAspGlyCysAsnGlyProValValGlyThrArgTyrLysCysSerValCysProAspTyrAspLeuCysSerValCysGluGlyLysGlyLeuHisArgGlyHisThrLysLeuAlaPheProSerProPheGlyHisLeuSerGluGlyPheSerHisSerArgTrpLeuArgLysValLysHisGlyHisPheGlyTrpProGlyTrpGluMetGlyProProGlyAsnTrpSerProArgProProArgAlaGlyGluAlaArgProGlyProThrAlaGluSerAlaSerGlyProSerGluAspProSerValAsnPheLeuLysAsnValGlyGluSerValAlaAlaAlaLeuSerProLeuGlyIleGluValAspIleAspValGluHisGlyGlyLysArgSerArgLeuThrProValSerProGluSerSerSerThrGluGluLysSerSerSerGlnProSerSerCysCysSerAspProSerLysProGlyGlyAsnValGluGlyAlaThrGlnSerLeuAlaGluGlnMetArgLysIleAlaLeuGluSerGluGlyArgProGluGluGlnMetGluSerAspAsnCysSerGlyGlyAspAspAspTrpThrHisLeuSerSerLysGluValAspProSerThrGlyGluLeuGlnSerLeuGlnMetProGluSerGluGlyProSerSerLeuAspProSerGlnGluGlyProThrGlyLeuLysGluAlaAlaLeuTyrProHisLeuProProGluAlaAspProArgLeuIleGluSerLeuSerGlnMetLeuSerMetGlyPheSerAspGluGlyGlyTrpLeuThrArgLeuLeuGlnThrLysAsnTyrAspIleGlyAlaAlaLeuAspThrIleGlnTyrSerLysHisProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012816" }, { "@id": "http://reg.genome.network/allele/PA2825842570", "coordinates": [ { "allele": "T", "end": 311, "referenceAllele": "C", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN011280", "geneNCBI_id": 8878, "geneSymbol": "SQSTM1", "hgvs": [ "NM_001142299.1:c.34C>T" ], "proteinEffect": { "hgvs": "NP_001135771.1:p.Arg12Ter", "hgvsWellDefined": "NP_001135771.1:p.Arg12_Leu356delinsIleTyrIleLysGluLysLysGluCysArgArgAspHisArgProProCysAlaGlnGluAlaProArgAsnMetValHisProAsnValIleCysAspGlyCysAsnGlyProValValGlyThrArgTyrLysCysSerValCysProAspTyrAspLeuCysSerValCysGluGlyLysGlyLeuHisArgGlyHisThrLysLeuAlaPheProSerProPheGlyHisLeuSerGluGlyPheSerHisSerArgTrpLeuArgLysValLysHisGlyHisPheGlyTrpProGlyTrpGluMetGlyProProGlyAsnTrpSerProArgProProArgAlaGlyGluAlaArgProGlyProThrAlaGluSerAlaSerGlyProSerGluAspProSerValAsnPheLeuLysAsnValGlyGluSerValAlaAlaAlaLeuSerProLeuGlyIleGluValAspIleAspValGluHisGlyGlyLysArgSerArgLeuThrProValSerProGluSerSerSerThrGluGluLysSerSerSerGlnProSerSerCysCysSerAspProSerLysProGlyGlyAsnValGluGlyAlaThrGlnSerLeuAlaGluGlnMetArgLysIleAlaLeuGluSerGluGlyArgProGluGluGlnMetGluSerAspAsnCysSerGlyGlyAspAspAspTrpThrHisLeuSerSerLysGluValAspProSerThrGlyGluLeuGlnSerLeuGlnMetProGluSerGluGlyProSerSerLeuAspProSerGlnGluGlyProThrGlyLeuLysGluAlaAlaLeuTyrProHisLeuProProGluAlaAspProArgLeuIleGluSerLeuSerGlnMetLeuSerMetGlyPheSerAspGluGlyGlyTrpLeuThrArgLeuLeuGlnThrLysAsnTyrAspIleGlyAlaAlaLeuAspThrIleGlnTyrSerLysHisProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012817" }, { "@id": "http://reg.genome.network/allele/PA645449281", "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN011280", "geneNCBI_id": 8878, "geneSymbol": "SQSTM1", "hgvs": [ "NM_003900.4:c.286C>T" ], "proteinEffect": { "hgvs": "NP_003891.1:p.Arg96Ter", "hgvsWellDefined": "NP_003891.1:p.Arg96_Leu440delinsIleTyrIleLysGluLysLysGluCysArgArgAspHisArgProProCysAlaGlnGluAlaProArgAsnMetValHisProAsnValIleCysAspGlyCysAsnGlyProValValGlyThrArgTyrLysCysSerValCysProAspTyrAspLeuCysSerValCysGluGlyLysGlyLeuHisArgGlyHisThrLysLeuAlaPheProSerProPheGlyHisLeuSerGluGlyPheSerHisSerArgTrpLeuArgLysValLysHisGlyHisPheGlyTrpProGlyTrpGluMetGlyProProGlyAsnTrpSerProArgProProArgAlaGlyGluAlaArgProGlyProThrAlaGluSerAlaSerGlyProSerGluAspProSerValAsnPheLeuLysAsnValGlyGluSerValAlaAlaAlaLeuSerProLeuGlyIleGluValAspIleAspValGluHisGlyGlyLysArgSerArgLeuThrProValSerProGluSerSerSerThrGluGluLysSerSerSerGlnProSerSerCysCysSerAspProSerLysProGlyGlyAsnValGluGlyAlaThrGlnSerLeuAlaGluGlnMetArgLysIleAlaLeuGluSerGluGlyArgProGluGluGlnMetGluSerAspAsnCysSerGlyGlyAspAspAspTrpThrHisLeuSerSerLysGluValAspProSerThrGlyGluLeuGlnSerLeuGlnMetProGluSerGluGlyProSerSerLeuAspProSerGlnGluGlyProThrGlyLeuLysGluAlaAlaLeuTyrProHisLeuProProGluAlaAspProArgLeuIleGluSerLeuSerGlnMetLeuSerMetGlyPheSerAspGluGlyGlyTrpLeuThrArgLeuLeuGlnThrLysAsnTyrAspIleGlyAlaAlaLeuAspThrIleGlnTyrSerLysHisProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029113" }, { "coordinates": [ { "allele": "T", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN011280", "geneNCBI_id": 8878, "geneSymbol": "SQSTM1", "hgvs": [ "XM_017010010.1:c.34C>T" ], "proteinEffect": { "hgvs": "XP_016865499.1:p.Arg12Ter", "hgvsWellDefined": "XP_016865499.1:p.Arg12_Leu356delinsIleTyrIleLysGluLysLysGluCysArgArgAspHisArgProProCysAlaGlnGluAlaProArgAsnMetValHisProAsnValIleCysAspGlyCysAsnGlyProValValGlyThrArgTyrLysCysSerValCysProAspTyrAspLeuCysSerValCysGluGlyLysGlyLeuHisArgGlyHisThrLysLeuAlaPheProSerProPheGlyHisLeuSerGluGlyPheSerHisSerArgTrpLeuArgLysValLysHisGlyHisPheGlyTrpProGlyTrpGluMetGlyProProGlyAsnTrpSerProArgProProArgAlaGlyGluAlaArgProGlyProThrAlaGluSerAlaSerGlyProSerGluAspProSerValAsnPheLeuLysAsnValGlyGluSerValAlaAlaAlaLeuSerProLeuGlyIleGluValAspIleAspValGluHisGlyGlyLysArgSerArgLeuThrProValSerProGluSerSerSerThrGluGluLysSerSerSerGlnProSerSerCysCysSerAspProSerLysProGlyGlyAsnValGluGlyAlaThrGlnSerLeuAlaGluGlnMetArgLysIleAlaLeuGluSerGluGlyArgProGluGluGlnMetGluSerAspAsnCysSerGlyGlyAspAspAspTrpThrHisLeuSerSerLysGluValAspProSerThrGlyGluLeuGlnSerLeuGlnMetProGluSerGluGlyProSerSerLeuAspProSerGlnGluGlyProThrGlyLeuLysGluAlaAlaLeuTyrProHisLeuProProGluAlaAspProArgLeuIleGluSerLeuSerGlnMetLeuSerMetGlyPheSerAspGluGlyGlyTrpLeuThrArgLeuLeuGlnThrLysAsnTyrAspIleGlyAlaAlaLeuAspThrIleGlnTyrSerLysHisProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564171" }, { "@id": "http://reg.genome.network/allele/PA645449281", "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN011280", "geneNCBI_id": 8878, "geneSymbol": "SQSTM1", "hgvs": [ "NM_003900.5:c.286C>T" ], "proteinEffect": { "hgvs": "NP_003891.1:p.Arg96Ter", "hgvsWellDefined": "NP_003891.1:p.Arg96_Leu440delinsIleTyrIleLysGluLysLysGluCysArgArgAspHisArgProProCysAlaGlnGluAlaProArgAsnMetValHisProAsnValIleCysAspGlyCysAsnGlyProValValGlyThrArgTyrLysCysSerValCysProAspTyrAspLeuCysSerValCysGluGlyLysGlyLeuHisArgGlyHisThrLysLeuAlaPheProSerProPheGlyHisLeuSerGluGlyPheSerHisSerArgTrpLeuArgLysValLysHisGlyHisPheGlyTrpProGlyTrpGluMetGlyProProGlyAsnTrpSerProArgProProArgAlaGlyGluAlaArgProGlyProThrAlaGluSerAlaSerGlyProSerGluAspProSerValAsnPheLeuLysAsnValGlyGluSerValAlaAlaAlaLeuSerProLeuGlyIleGluValAspIleAspValGluHisGlyGlyLysArgSerArgLeuThrProValSerProGluSerSerSerThrGluGluLysSerSerSerGlnProSerSerCysCysSerAspProSerLysProGlyGlyAsnValGluGlyAlaThrGlnSerLeuAlaGluGlnMetArgLysIleAlaLeuGluSerGluGlyArgProGluGluGlnMetGluSerAspAsnCysSerGlyGlyAspAspAspTrpThrHisLeuSerSerLysGluValAspProSerThrGlyGluLeuGlnSerLeuGlnMetProGluSerGluGlyProSerSerLeuAspProSerGlnGluGlyProThrGlyLeuLysGluAlaAlaLeuTyrProHisLeuProProGluAlaAspProArgLeuIleGluSerLeuSerGlnMetLeuSerMetGlyPheSerAspGluGlyGlyTrpLeuThrArgLeuLeuGlnThrLysAsnTyrAspIleGlyAlaAlaLeuAspThrIleGlnTyrSerLysHisProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666237", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389805.9:c.286C>T" }, "RefSeq": { "hgvs": "NM_003900.5:c.286C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374455.4:p.Arg96Ter" }, "RefSeq": { "hgvs": "NP_003891.1:p.Arg96Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825841777", "coordinates": [ { "allele": "T", "end": 389, "referenceAllele": "C", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN011280", "geneNCBI_id": 8878, "geneSymbol": "SQSTM1", "hgvs": [ "NM_001142298.2:c.34C>T" ], "proteinEffect": { "hgvs": "NP_001135770.1:p.Arg12Ter", "hgvsWellDefined": "NP_001135770.1:p.Arg12_Leu356delinsIleTyrIleLysGluLysLysGluCysArgArgAspHisArgProProCysAlaGlnGluAlaProArgAsnMetValHisProAsnValIleCysAspGlyCysAsnGlyProValValGlyThrArgTyrLysCysSerValCysProAspTyrAspLeuCysSerValCysGluGlyLysGlyLeuHisArgGlyHisThrLysLeuAlaPheProSerProPheGlyHisLeuSerGluGlyPheSerHisSerArgTrpLeuArgLysValLysHisGlyHisPheGlyTrpProGlyTrpGluMetGlyProProGlyAsnTrpSerProArgProProArgAlaGlyGluAlaArgProGlyProThrAlaGluSerAlaSerGlyProSerGluAspProSerValAsnPheLeuLysAsnValGlyGluSerValAlaAlaAlaLeuSerProLeuGlyIleGluValAspIleAspValGluHisGlyGlyLysArgSerArgLeuThrProValSerProGluSerSerSerThrGluGluLysSerSerSerGlnProSerSerCysCysSerAspProSerLysProGlyGlyAsnValGluGlyAlaThrGlnSerLeuAlaGluGlnMetArgLysIleAlaLeuGluSerGluGlyArgProGluGluGlnMetGluSerAspAsnCysSerGlyGlyAspAspAspTrpThrHisLeuSerSerLysGluValAspProSerThrGlyGluLeuGlnSerLeuGlnMetProGluSerGluGlyProSerSerLeuAspProSerGlnGluGlyProThrGlyLeuLysGluAlaAlaLeuTyrProHisLeuProProGluAlaAspProArgLeuIleGluSerLeuSerGlnMetLeuSerMetGlyPheSerAspGluGlyGlyTrpLeuThrArgLeuLeuGlnThrLysAsnTyrAspIleGlyAlaAlaLeuAspThrIleGlnTyrSerLysHisProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677497" }, { "@id": "http://reg.genome.network/allele/PA2825842570", "coordinates": [ { "allele": "T", "end": 305, "referenceAllele": "C", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN011280", "geneNCBI_id": 8878, "geneSymbol": "SQSTM1", "hgvs": [ "NM_001142299.2:c.34C>T" ], "proteinEffect": { "hgvs": "NP_001135771.1:p.Arg12Ter", "hgvsWellDefined": "NP_001135771.1:p.Arg12_Leu356delinsIleTyrIleLysGluLysLysGluCysArgArgAspHisArgProProCysAlaGlnGluAlaProArgAsnMetValHisProAsnValIleCysAspGlyCysAsnGlyProValValGlyThrArgTyrLysCysSerValCysProAspTyrAspLeuCysSerValCysGluGlyLysGlyLeuHisArgGlyHisThrLysLeuAlaPheProSerProPheGlyHisLeuSerGluGlyPheSerHisSerArgTrpLeuArgLysValLysHisGlyHisPheGlyTrpProGlyTrpGluMetGlyProProGlyAsnTrpSerProArgProProArgAlaGlyGluAlaArgProGlyProThrAlaGluSerAlaSerGlyProSerGluAspProSerValAsnPheLeuLysAsnValGlyGluSerValAlaAlaAlaLeuSerProLeuGlyIleGluValAspIleAspValGluHisGlyGlyLysArgSerArgLeuThrProValSerProGluSerSerSerThrGluGluLysSerSerSerGlnProSerSerCysCysSerAspProSerLysProGlyGlyAsnValGluGlyAlaThrGlnSerLeuAlaGluGlnMetArgLysIleAlaLeuGluSerGluGlyArgProGluGluGlnMetGluSerAspAsnCysSerGlyGlyAspAspAspTrpThrHisLeuSerSerLysGluValAspProSerThrGlyGluLeuGlnSerLeuGlnMetProGluSerGluGlyProSerSerLeuAspProSerGlnGluGlyProThrGlyLeuLysGluAlaAlaLeuTyrProHisLeuProProGluAlaAspProArgLeuIleGluSerLeuSerGlnMetLeuSerMetGlyPheSerAspGluGlyGlyTrpLeuThrArgLeuLeuGlnThrLysAsnTyrAspIleGlyAlaAlaLeuAspThrIleGlnTyrSerLysHisProProProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677498" } ], "type": "nucleotide" }