{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367638072", "communityStandardTitle": [ "NM_000048.4(ASL):c.106G>T (p.Glu36Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2838486[alleleid]", "alleleId": 2838486, "preferredName": "NM_000048.4(ASL):c.106G>T (p.Glu36Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2678767", "RCV": [ "RCV003472758" ], "variationId": 2678767 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.65546883G>T?assembly=hg19", "id": "chr7:g.65546883G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.66081896G>T?assembly=hg38", "id": "chr7:g.66081896G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2484993575", "rs": 2484993575 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-66081896-G-T?dataset=gnomad_r4", "id": 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"hgvs": [ "NG_009288.1:g.11108G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001544" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 187, "referenceAllele": "G", "start": 186 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000304874.14:c.106G>T" ], "proteinEffect": { "hgvs": "ENSP00000307188.9:p.Glu36Ter", "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.106G>T" }, "RefSeq": { "hgvs": "NM_000048.4:c.106G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307188.9:p.Glu36Ter" }, "RefSeq": { "hgvs": "NP_000039.2:p.Glu36Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 157, "endIntronDirection": "-", "endIntronOffset": 471, "referenceAllele": "G", "start": 157, "startIntronDirection": "-", "startIntronOffset": 472 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000362000.10:c.13-472G>T" ], "proteinEffect": { "hgvs": "ENSP00000354710.6:n.13-472G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS749575" }, { "coordinates": [ { "allele": "T", "end": 341, "referenceAllele": "G", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS753384" }, { "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "G", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395332.8:c.106G>T" ], "proteinEffect": { "hgvs": "ENSP00000378741.3:p.Glu36Ter", "hgvsWellDefined": "ENSP00000378741.3:p.Glu36_Ala464delinsValAspValGlnGlySerLysAlaTyrSerArgGlyLeuGluLysAlaGlyLeuLeuThrLysAlaGluMetAspGlnIleLeuHisGlyLeuAspLysValAlaGluGluTrpAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753385" }, { "coordinates": [ { "allele": "T", "end": 243, "referenceAllele": "G", "start": 242 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000671817.1:c.106G>T" ], "proteinEffect": { "hgvs": "ENSP00000500462.1:p.Glu36Ter", "hgvsWellDefined": "ENSP00000500462.1:p.Glu36Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS773177" }, { "coordinates": [ { "allele": "T", "end": 354, "referenceAllele": "G", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000672498.1:c.106G>T" ], "proteinEffect": { "hgvs": "ENSP00000500227.1:p.Glu36Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000672676.1:n.276G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773454" }, { "coordinates": [ { "allele": "T", "end": 354, "referenceAllele": "G", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000673350.1:n.354G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773654" }, { "coordinates": [ { "allele": "T", "end": 184, "referenceAllele": "G", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000673518.1:c.106G>T" ], "proteinEffect": { "hgvs": "ENSP00000499889.1:p.Glu36Ter", "hgvsWellDefined": "ENSP00000499889.1:p.Glu36_Ala438delinsValAspValGlnGlySerLysAlaTyrSerArgGlyLeuGluLysAlaGlyLeuLeuThrLysAlaGluMetAspGlnIleLeuHisGlyLeuAspLysValAlaGluGluTrpAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773711" }, { "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "G", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000304874.13:c.106G>T" ], "proteinEffect": { "hgvs": "ENSP00000307188.9:p.Glu36Ter", "hgvsWellDefined": 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"ENSP00000370219.4:p.Glu36_Ala438delinsValAspValGlnGlySerLysAlaTyrSerArgGlyLeuGluLysAlaGlyLeuLeuThrLysAlaGluMetAspGlnIleLeuHisGlyLeuAspLysValAlaGluGluTrpAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273115" }, { "coordinates": [ { "allele": "T", "end": 304, "referenceAllele": "G", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395331.3:c.106G>T" ], "proteinEffect": { "hgvs": "ENSP00000378740.3:p.Glu36Ter", "hgvsWellDefined": "ENSP00000378740.3:p.Glu36_Ala444delinsValAspValGlnGlySerLysAlaTyrSerArgGlyLeuGluLysAlaGlyLeuLeuThrLysAlaGluMetAspGlnIleLeuHisGlyLeuAspLysValAlaGluGluTrpAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276634" }, { "coordinates": [ { "allele": "T", "end": 314, "referenceAllele": "G", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395332.7:c.106G>T" ], "proteinEffect": { "hgvs": "ENSP00000378741.3:p.Glu36Ter", "hgvsWellDefined": "ENSP00000378741.3:p.Glu36_Ala464delinsValAspValGlnGlySerLysAlaTyrSerArgGlyLeuGluLysAlaGlyLeuLeuThrLysAlaGluMetAspGlnIleLeuHisGlyLeuAspLysValAlaGluGluTrpAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276635" }, { "coordinates": [ { "allele": "T", "end": 172, "referenceAllele": "G", "start": 171 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000487982.5:n.172G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS326409" }, { "coordinates": [ { "allele": "T", "end": 347, "referenceAllele": "G", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000496336.1:n.347G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332834" }, { "@id": "http://reg.genome.network/allele/PA2825028198", "coordinates": [ { "allele": "T", "end": 217, "referenceAllele": "G", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_000048.3:c.106G>T" ], "proteinEffect": { "hgvs": "NP_000039.2:p.Glu36Ter", "hgvsWellDefined": "NP_000039.2:p.Glu36_Ala464delinsValAspValGlnGlySerLysAlaTyrSerArgGlyLeuGluLysAlaGlyLeuLeuThrLysAlaGluMetAspGlnIleLeuHisGlyLeuAspLysValAlaGluGluTrpAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006113" }, { "@id": "http://reg.genome.network/allele/PA2825338011", "coordinates": [ { "allele": "T", "end": 341, "referenceAllele": "G", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024943.1:c.106G>T" ], "proteinEffect": { "hgvs": "NP_001020114.1:p.Glu36Ter", "hgvsWellDefined": "NP_001020114.1:p.Glu36_Ala464delinsValAspValGlnGlySerLysAlaTyrSerArgGlyLeuGluLysAlaGlyLeuLeuThrLysAlaGluMetAspGlnIleLeuHisGlyLeuAspLysValAlaGluGluTrpAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008813" }, { "@id": "http://reg.genome.network/allele/PA2825338353", "coordinates": [ { "allele": "T", "end": 341, "referenceAllele": "G", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024944.1:c.106G>T" ], "proteinEffect": { "hgvs": "NP_001020115.1:p.Glu36Ter", "hgvsWellDefined": "NP_001020115.1:p.Glu36_Ala444delinsValAspValGlnGlySerLysAlaTyrSerArgGlyLeuGluLysAlaGlyLeuLeuThrLysAlaGluMetAspGlnIleLeuHisGlyLeuAspLysValAlaGluGluTrpAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008814" }, { "@id": "http://reg.genome.network/allele/PA2741826012", "coordinates": [ { "allele": "T", "end": 341, "referenceAllele": "G", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024946.1:c.106G>T" ], "proteinEffect": { "hgvs": "NP_001020117.1:p.Glu36Ter", "hgvsWellDefined": "NP_001020117.1:p.Glu36_Ala438delinsValAspValGlnGlySerLysAlaTyrSerArgGlyLeuGluLysAlaGlyLeuLeuThrLysAlaGluMetAspGlnIleLeuHisGlyLeuAspLysValAlaGluGluTrpAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008815" }, { "@id": "http://reg.genome.network/allele/PA2825028198", "coordinates": [ { "allele": "T", "end": 187, "referenceAllele": "G", "start": 186 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_000048.4:c.106G>T" ], "proteinEffect": { "hgvs": "NP_000039.2:p.Glu36Ter", "hgvsWellDefined": "NP_000039.2:p.Glu36_Ala464delinsValAspValGlnGlySerLysAlaTyrSerArgGlyLeuGluLysAlaGlyLeuLeuThrLysAlaGluMetAspGlnIleLeuHisGlyLeuAspLysValAlaGluGluTrpAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674677", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000304874.14:c.106G>T" }, "RefSeq": { "hgvs": "NM_000048.4:c.106G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307188.9:p.Glu36Ter" }, "RefSeq": { "hgvs": "NP_000039.2:p.Glu36Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825338011", "coordinates": [ { "allele": "T", "end": 369, "referenceAllele": "G", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024943.2:c.106G>T" ], "proteinEffect": { "hgvs": "NP_001020114.1:p.Glu36Ter", "hgvsWellDefined": "NP_001020114.1:p.Glu36_Ala464delinsValAspValGlnGlySerLysAlaTyrSerArgGlyLeuGluLysAlaGlyLeuLeuThrLysAlaGluMetAspGlnIleLeuHisGlyLeuAspLysValAlaGluGluTrpAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675647" }, { "@id": "http://reg.genome.network/allele/PA2825338353", "coordinates": [ { "allele": "T", "end": 369, "referenceAllele": "G", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024944.2:c.106G>T" ], "proteinEffect": { "hgvs": "NP_001020115.1:p.Glu36Ter", "hgvsWellDefined": "NP_001020115.1:p.Glu36_Ala444delinsValAspValGlnGlySerLysAlaTyrSerArgGlyLeuGluLysAlaGlyLeuLeuThrLysAlaGluMetAspGlnIleLeuHisGlyLeuAspLysValAlaGluGluTrpAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675648" }, { "@id": "http://reg.genome.network/allele/PA2741826012", "coordinates": [ { "allele": "T", "end": 369, "referenceAllele": "G", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024946.2:c.106G>T" ], "proteinEffect": { "hgvs": "NP_001020117.1:p.Glu36Ter", "hgvsWellDefined": "NP_001020117.1:p.Glu36_Ala438delinsValAspValGlnGlySerLysAlaTyrSerArgGlyLeuGluLysAlaGlyLeuLeuThrLysAlaGluMetAspGlnIleLeuHisGlyLeuAspLysValAlaGluGluTrpAlaGlnGlyThrPheLysLeuAsnSerAsnAspGluAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675649" } ], "type": "nucleotide" }