{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367638784", "communityStandardTitle": [ "NM_000048.4(ASL):c.221G>A (p.Trp74Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1061117[alleleid]", "alleleId": 1061117, "preferredName": "NM_000048.4(ASL):c.221G>A (p.Trp74Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1075343", "RCV": [ "RCV001388903" ], "variationId": 1075343 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.65547368G>A?assembly=hg19", "id": "chr7:g.65547368G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.66082381G>A?assembly=hg38", "id": "chr7:g.66082381G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2115694416", "rs": 2115694416 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 66082381, "referenceAllele": 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"end": 302, "referenceAllele": "G", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000304874.14:c.221G>A" ], "proteinEffect": { "hgvs": "ENSP00000307188.9:p.Trp74Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS745152", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000304874.14:c.221G>A" }, "RefSeq": { "hgvs": "NM_000048.4:c.221G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307188.9:p.Trp74Ter" }, "RefSeq": { "hgvs": "NP_000039.2:p.Trp74Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 171, "referenceAllele": "G", "start": 170 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000362000.10:c.26G>A" ], "proteinEffect": { "hgvs": "ENSP00000354710.6:p.Trp9Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS749575" }, { "coordinates": [ { "allele": "A", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000380839.9:c.221G>A" ], "proteinEffect": { "hgvs": "ENSP00000370219.4:p.Trp74Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS752449" }, { "coordinates": [ { "allele": "A", "end": 359, "referenceAllele": "G", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395331.4:c.221G>A" ], "proteinEffect": { "hgvs": "ENSP00000378740.3:p.Trp74Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS753384" }, { "coordinates": [ { "allele": "A", "end": 414, "referenceAllele": "G", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395332.8:c.221G>A" ], "proteinEffect": { "hgvs": "ENSP00000378741.3:p.Trp74Ter", "hgvsWellDefined": 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"ENSP00000500227.1:p.Trp74_His163delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaThrGlnLeuTrpGlyHisHisSerGlnGlnHisGlyCysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773401" }, { "coordinates": [ { "allele": "A", "end": 126, "referenceAllele": "G", "start": 125 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000672586.1:n.126G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773425" }, { "coordinates": [ { "allele": "A", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000672676.1:n.391G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773454" }, { "coordinates": [ { "allele": "A", "end": 469, "referenceAllele": "G", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000673350.1:n.469G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773654" }, { "coordinates": [ { "allele": "A", "end": 299, "referenceAllele": "G", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000673518.1:c.221G>A" ], "proteinEffect": { "hgvs": "ENSP00000499889.1:p.Trp74Ter", "hgvsWellDefined": "ENSP00000499889.1:p.Trp74_Ala438delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773711" }, { "coordinates": [ { "allele": "A", "end": 70, "referenceAllele": "G", "start": 69 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000673594.1:n.70G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773729" }, { "coordinates": [ { "allele": "A", "end": 323, "referenceAllele": "G", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000304874.13:c.221G>A" ], "proteinEffect": { "hgvs": "ENSP00000307188.9:p.Trp74Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS255521" }, { "coordinates": [ { "allele": "A", "end": 228, "referenceAllele": "G", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000362000.9:c.26G>A" ], "proteinEffect": { "hgvs": "ENSP00000354710.5:p.Trp9Ter", "hgvsWellDefined": "ENSP00000354710.5:p.Trp9_Val242del" }, "referenceSequence": "http://reg.genome.network/refseq/RS265746" }, { "coordinates": [ { "allele": "A", "end": 437, "referenceAllele": "G", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000380839.8:c.221G>A" ], "proteinEffect": { "hgvs": "ENSP00000370219.4:p.Trp74Ter", "hgvsWellDefined": "ENSP00000370219.4:p.Trp74_Ala438delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273115" }, { "coordinates": [ { "allele": "A", "end": 419, "referenceAllele": "G", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395331.3:c.221G>A" ], "proteinEffect": { "hgvs": "ENSP00000378740.3:p.Trp74Ter", "hgvsWellDefined": "ENSP00000378740.3:p.Trp74_Ala444delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276634" }, { "coordinates": [ { "allele": "A", "end": 429, "referenceAllele": "G", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395332.7:c.221G>A" ], "proteinEffect": { "hgvs": "ENSP00000378741.3:p.Trp74Ter", "hgvsWellDefined": "ENSP00000378741.3:p.Trp74_Ala464delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276635" }, { "coordinates": [ { "allele": "A", "end": 287, "referenceAllele": "G", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000487982.5:n.287G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS326409" }, { "coordinates": [ { "allele": "A", "end": 462, "referenceAllele": "G", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000496336.1:n.462G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS332834" }, { "@id": "http://reg.genome.network/allele/PA2825028230", "coordinates": [ { "allele": "A", "end": 332, "referenceAllele": "G", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_000048.3:c.221G>A" ], "proteinEffect": { "hgvs": "NP_000039.2:p.Trp74Ter", "hgvsWellDefined": "NP_000039.2:p.Trp74_Ala464delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006113" }, { "@id": "http://reg.genome.network/allele/PA2825338033", "coordinates": [ { "allele": "A", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024943.1:c.221G>A" ], "proteinEffect": { "hgvs": "NP_001020114.1:p.Trp74Ter", "hgvsWellDefined": "NP_001020114.1:p.Trp74_Ala464delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008813" }, { "@id": "http://reg.genome.network/allele/PA2825338377", "coordinates": [ { "allele": "A", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024944.1:c.221G>A" ], "proteinEffect": { "hgvs": "NP_001020115.1:p.Trp74Ter", "hgvsWellDefined": "NP_001020115.1:p.Trp74_Ala444delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008814" }, { "@id": "http://reg.genome.network/allele/PA2499235325", "coordinates": [ { "allele": "A", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024946.1:c.221G>A" ], "proteinEffect": { "hgvs": "NP_001020117.1:p.Trp74Ter", "hgvsWellDefined": "NP_001020117.1:p.Trp74_Ala438delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008815" }, { "@id": "http://reg.genome.network/allele/PA2825028230", "coordinates": [ { "allele": "A", "end": 302, "referenceAllele": "G", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_000048.4:c.221G>A" ], "proteinEffect": { "hgvs": "NP_000039.2:p.Trp74Ter", "hgvsWellDefined": "NP_000039.2:p.Trp74_Ala464delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674677", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000304874.14:c.221G>A" }, "RefSeq": { "hgvs": "NM_000048.4:c.221G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307188.9:p.Trp74Ter" }, "RefSeq": { "hgvs": "NP_000039.2:p.Trp74Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825338033", "coordinates": [ { "allele": "A", "end": 484, "referenceAllele": "G", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024943.2:c.221G>A" ], "proteinEffect": { "hgvs": "NP_001020114.1:p.Trp74Ter", "hgvsWellDefined": "NP_001020114.1:p.Trp74_Ala464delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675647" }, { "@id": "http://reg.genome.network/allele/PA2825338377", "coordinates": [ { "allele": "A", "end": 484, "referenceAllele": "G", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024944.2:c.221G>A" ], "proteinEffect": { "hgvs": "NP_001020115.1:p.Trp74Ter", "hgvsWellDefined": "NP_001020115.1:p.Trp74_Ala444delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675648" }, { "@id": "http://reg.genome.network/allele/PA2499235325", "coordinates": [ { "allele": "A", "end": 484, "referenceAllele": "G", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024946.2:c.221G>A" ], "proteinEffect": { "hgvs": "NP_001020117.1:p.Trp74Ter", "hgvsWellDefined": "NP_001020117.1:p.Trp74_Ala438delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675649" } ], "type": "nucleotide" }