{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367638789", "communityStandardTitle": [ "NM_000048.4(ASL):c.222G>A (p.Trp74Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.65547369G>A?assembly=hg19", "id": "chr7:g.65547369G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.66082382G>A?assembly=hg38", "id": "chr7:g.66082382G>A" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 66082382, "referenceAllele": "G", "start": 66082381 } ], "hgvs": [ "NC_000007.14:g.66082382G>A", "CM000669.2:g.66082382G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 65547369, "referenceAllele": "G", "start": 65547368 } ], "hgvs": [ "NC_000007.13:g.65547369G>A", "CM000669.1:g.65547369G>A" ], "referenceGenome": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS745152", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000304874.14:c.222G>A" }, "RefSeq": { "hgvs": "NM_000048.4:c.222G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307188.9:p.Trp74Ter" }, "RefSeq": { "hgvs": "NP_000039.2:p.Trp74Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 172, "referenceAllele": "G", "start": 171 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000362000.10:c.27G>A" ], "proteinEffect": { "hgvs": "ENSP00000354710.6:p.Trp9Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS749575" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000380839.9:c.222G>A" ], "proteinEffect": { "hgvs": "ENSP00000370219.4:p.Trp74Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS752449" }, { "coordinates": [ { "allele": "A", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395331.4:c.222G>A" ], "proteinEffect": { "hgvs": "ENSP00000378740.3:p.Trp74Ter", "hgvsWellDefined": "ENSP00000378740.3:p.Trp74_Ala444delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753384" }, { "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "G", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395332.8:c.222G>A" ], "proteinEffect": { "hgvs": "ENSP00000378741.3:p.Trp74Ter", "hgvsWellDefined": "ENSP00000378741.3:p.Trp74_Ala464delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753385" }, { "coordinates": [ { "allele": "A", "end": 359, "referenceAllele": "G", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000671817.1:c.222G>A" ], "proteinEffect": { "hgvs": "ENSP00000500462.1:p.Trp74Ter", "hgvsWellDefined": "ENSP00000500462.1:p.Trp74Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS773177" }, { "coordinates": [ { "allele": "A", "end": 470, "referenceAllele": "G", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000672498.1:c.222G>A" ], "proteinEffect": { "hgvs": "ENSP00000500227.1:p.Trp74Ter", "hgvsWellDefined": "ENSP00000500227.1:p.Trp74_His163delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaThrGlnLeuTrpGlyHisHisSerGlnGlnHisGlyCysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773401" }, { "coordinates": [ { "allele": "A", "end": 127, "referenceAllele": "G", "start": 126 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000672586.1:n.127G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773425" }, { "coordinates": [ { "allele": "A", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000672676.1:n.392G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773454" }, { "coordinates": [ { "allele": "A", "end": 470, "referenceAllele": "G", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000673350.1:n.470G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773654" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000673518.1:c.222G>A" ], "proteinEffect": { "hgvs": "ENSP00000499889.1:p.Trp74Ter", "hgvsWellDefined": "ENSP00000499889.1:p.Trp74_Ala438delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773711" }, { "coordinates": [ { "allele": "A", "end": 71, "referenceAllele": "G", "start": 70 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000673594.1:n.71G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773729" }, { "coordinates": [ { "allele": "A", "end": 324, "referenceAllele": "G", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000304874.13:c.222G>A" ], "proteinEffect": { "hgvs": "ENSP00000307188.9:p.Trp74Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS255521" }, { "coordinates": [ { "allele": "A", "end": 229, "referenceAllele": "G", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000362000.9:c.27G>A" ], "proteinEffect": { "hgvs": "ENSP00000354710.5:p.Trp9Ter", "hgvsWellDefined": "ENSP00000354710.5:p.Trp9_Val242del" }, "referenceSequence": "http://reg.genome.network/refseq/RS265746" }, { "coordinates": [ { "allele": "A", "end": 438, "referenceAllele": "G", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000380839.8:c.222G>A" ], "proteinEffect": { "hgvs": "ENSP00000370219.4:p.Trp74Ter", "hgvsWellDefined": "ENSP00000370219.4:p.Trp74_Ala438delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273115" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395331.3:c.222G>A" ], "proteinEffect": { "hgvs": "ENSP00000378740.3:p.Trp74Ter", "hgvsWellDefined": "ENSP00000378740.3:p.Trp74_Ala444delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276634" }, { "coordinates": [ { "allele": "A", "end": 430, "referenceAllele": "G", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395332.7:c.222G>A" ], "proteinEffect": { "hgvs": "ENSP00000378741.3:p.Trp74Ter", "hgvsWellDefined": "ENSP00000378741.3:p.Trp74_Ala464delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276635" }, { "coordinates": [ { "allele": "A", "end": 288, "referenceAllele": "G", "start": 287 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000487982.5:n.288G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS326409" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "G", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000496336.1:n.463G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS332834" }, { "@id": "http://reg.genome.network/allele/PA2825028230", "coordinates": [ { "allele": "A", "end": 333, "referenceAllele": "G", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_000048.3:c.222G>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": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024943.1:c.222G>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": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024944.1:c.222G>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": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024946.1:c.222G>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": 303, "referenceAllele": "G", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_000048.4:c.222G>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.222G>A" }, "RefSeq": { "hgvs": "NM_000048.4:c.222G>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": 485, "referenceAllele": "G", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024943.2:c.222G>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": 485, "referenceAllele": "G", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024944.2:c.222G>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": 485, "referenceAllele": "G", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024946.2:c.222G>A" ], "proteinEffect": { "hgvs": "NP_001020117.1:p.Trp74Ter", "hgvsWellDefined": "NP_001020117.1:p.Trp74_Ala438delinsAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675649" } ], "type": "nucleotide" }