{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367638955", "communityStandardTitle": [ "NM_000048.4(ASL):c.256G>T (p.Glu86Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=972003[alleleid]", "alleleId": 972003, "preferredName": "NM_000048.4(ASL):c.256G>T (p.Glu86Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/984300", "RCV": [ "RCV001264310" ], "variationId": 984300 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.65547403G>T?assembly=hg19", "id": "chr7:g.65547403G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.66082416G>T?assembly=hg38", "id": "chr7:g.66082416G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1786532924", "rs": 1786532924 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 66082416, "referenceAllele": "G", "start": 66082415 } ], "hgvs": [ "NC_000007.14:g.66082416G>T", "CM000669.2:g.66082416G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 65547403, "referenceAllele": "G", "start": 65547402 } ], "hgvs": [ "NC_000007.13:g.65547403G>T", "CM000669.1:g.65547403G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 65184838, "referenceAllele": "G", "start": 65184837 } ], "hgvs": [ "NC_000007.12:g.65184838G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 11628, "referenceAllele": "G", "start": 11627 } ], "hgvs": [ "NG_009288.1:g.11628G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001544" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "G", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000304874.14:c.256G>T" ], "proteinEffect": { "hgvs": "ENSP00000307188.9:p.Glu86Ter", "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.256G>T" }, "RefSeq": { "hgvs": "NM_000048.4:c.256G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307188.9:p.Glu86Ter" }, "RefSeq": { "hgvs": "NP_000039.2:p.Glu86Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 206, "referenceAllele": "G", "start": 205 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000362000.10:c.61G>T" ], "proteinEffect": { "hgvs": "ENSP00000354710.6:p.Glu21Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS749575" }, { "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "G", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000380839.9:c.256G>T" ], "proteinEffect": { "hgvs": "ENSP00000370219.4:p.Glu86Ter", "hgvsWellDefined": "ENSP00000370219.4:p.Glu86_Ala438delinsAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752449" }, { "coordinates": [ { "allele": "T", "end": 394, "referenceAllele": "G", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395331.4:c.256G>T" ], "proteinEffect": { "hgvs": "ENSP00000378740.3:p.Glu86Ter", "hgvsWellDefined": "ENSP00000378740.3:p.Glu86_Ala444delinsAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753384" }, { "coordinates": [ { "allele": "T", "end": 449, "referenceAllele": "G", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395332.8:c.256G>T" ], "proteinEffect": { "hgvs": "ENSP00000378741.3:p.Glu86Ter", "hgvsWellDefined": "ENSP00000378741.3:p.Glu86_Ala464delinsAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753385" }, { "coordinates": [ { "allele": "T", "end": 393, "referenceAllele": "G", "start": 392 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000671817.1:c.256G>T" ], "proteinEffect": { "hgvs": "ENSP00000500462.1:p.Glu86Ter", "hgvsWellDefined": "ENSP00000500462.1:p.Glu86Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS773177" }, { "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "G", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000672498.1:c.256G>T" ], "proteinEffect": { "hgvs": "ENSP00000500227.1:p.Glu86Ter", "hgvsWellDefined": "ENSP00000500227.1:p.Glu86_His163delinsAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaThrGlnLeuTrpGlyHisHisSerGlnGlnHisGlyCysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773401" }, { "coordinates": [ { "allele": "T", "end": 161, "referenceAllele": "G", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000672586.1:n.161G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773425" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "G", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000672676.1:n.426G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773454" }, { "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "G", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000673350.1:n.504G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773654" }, { "coordinates": [ { "allele": "T", "end": 334, "referenceAllele": "G", "start": 333 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000673518.1:c.256G>T" ], "proteinEffect": { "hgvs": "ENSP00000499889.1:p.Glu86Ter", "hgvsWellDefined": "ENSP00000499889.1:p.Glu86_Ala438delinsAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773711" }, { "coordinates": [ { "allele": "T", "end": 105, "referenceAllele": "G", "start": 104 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000673594.1:n.105G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773729" }, { "coordinates": [ { "allele": "T", "end": 358, "referenceAllele": "G", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000304874.13:c.256G>T" ], "proteinEffect": { "hgvs": "ENSP00000307188.9:p.Glu86Ter", "hgvsWellDefined": "ENSP00000307188.9:p.Glu86_Ala464delinsAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255521" }, { "coordinates": [ { "allele": "T", "end": 263, "referenceAllele": "G", "start": 262 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000362000.9:c.61G>T" ], "proteinEffect": { "hgvs": "ENSP00000354710.5:p.Glu21Ter", "hgvsWellDefined": "ENSP00000354710.5:p.Glu21_Val242del" }, "referenceSequence": "http://reg.genome.network/refseq/RS265746" }, { "coordinates": [ { "allele": "T", "end": 472, "referenceAllele": "G", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000380839.8:c.256G>T" ], "proteinEffect": { "hgvs": "ENSP00000370219.4:p.Glu86Ter", "hgvsWellDefined": "ENSP00000370219.4:p.Glu86_Ala438delinsAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273115" }, { "coordinates": [ { "allele": "T", "end": 454, "referenceAllele": "G", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395331.3:c.256G>T" ], "proteinEffect": { "hgvs": "ENSP00000378740.3:p.Glu86Ter", "hgvsWellDefined": "ENSP00000378740.3:p.Glu86_Ala444delinsAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276634" }, { "coordinates": [ { "allele": "T", "end": 464, "referenceAllele": "G", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395332.7:c.256G>T" ], "proteinEffect": { "hgvs": "ENSP00000378741.3:p.Glu86Ter", "hgvsWellDefined": "ENSP00000378741.3:p.Glu86_Ala464delinsAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276635" }, { "coordinates": [ { "allele": "T", "end": 322, "referenceAllele": "G", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000487982.5:n.322G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS326409" }, { "coordinates": [ { "allele": "T", "end": 497, "referenceAllele": "G", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000496336.1:n.497G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332834" }, { "@id": "http://reg.genome.network/allele/PA2825028243", "coordinates": [ { "allele": "T", "end": 367, "referenceAllele": "G", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_000048.3:c.256G>T" ], "proteinEffect": { "hgvs": "NP_000039.2:p.Glu86Ter", "hgvsWellDefined": "NP_000039.2:p.Glu86_Ala464delinsAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006113" }, { "@id": "http://reg.genome.network/allele/PA2825338044", "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "G", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024943.1:c.256G>T" ], "proteinEffect": { "hgvs": "NP_001020114.1:p.Glu86Ter", "hgvsWellDefined": "NP_001020114.1:p.Glu86_Ala464delinsAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008813" }, { "@id": "http://reg.genome.network/allele/PA2825338389", "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "G", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024944.1:c.256G>T" ], "proteinEffect": { "hgvs": "NP_001020115.1:p.Glu86Ter", "hgvsWellDefined": "NP_001020115.1:p.Glu86_Ala444delinsAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008814" }, { "@id": "http://reg.genome.network/allele/PA1139670212", "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "G", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024946.1:c.256G>T" ], "proteinEffect": { "hgvs": "NP_001020117.1:p.Glu86Ter", "hgvsWellDefined": "NP_001020117.1:p.Glu86_Ala438delinsAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008815" }, { "@id": "http://reg.genome.network/allele/PA2825028243", "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "G", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_000048.4:c.256G>T" ], "proteinEffect": { "hgvs": "NP_000039.2:p.Glu86Ter", "hgvsWellDefined": "NP_000039.2:p.Glu86_Ala464delinsAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674677", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000304874.14:c.256G>T" }, "RefSeq": { "hgvs": "NM_000048.4:c.256G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307188.9:p.Glu86Ter" }, "RefSeq": { "hgvs": "NP_000039.2:p.Glu86Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825338044", "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024943.2:c.256G>T" ], "proteinEffect": { "hgvs": "NP_001020114.1:p.Glu86Ter", "hgvsWellDefined": "NP_001020114.1:p.Glu86_Ala464delinsAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675647" }, { "@id": "http://reg.genome.network/allele/PA2825338389", "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024944.2:c.256G>T" ], "proteinEffect": { "hgvs": "NP_001020115.1:p.Glu86Ter", "hgvsWellDefined": "NP_001020115.1:p.Glu86_Ala444delinsAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675648" }, { "@id": "http://reg.genome.network/allele/PA1139670212", "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024946.2:c.256G>T" ], "proteinEffect": { "hgvs": "NP_001020117.1:p.Glu86Ter", "hgvsWellDefined": "NP_001020117.1:p.Glu86_Ala438delinsAspIleHisThrAlaAsnGluArgArgLeuLysGluLeuIleGlyAlaThrAlaGlyLysLeuHisThrGlyArgSerArgAsnAspGlnValValThrAspLeuArgLeuTrpMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675649" } ], "type": "nucleotide" }