{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367639312", "communityStandardTitle": [ "NM_000048.4(ASL):c.371G>A (p.Trp124Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=972004[alleleid]", "alleleId": 972004, "preferredName": "NM_000048.4(ASL):c.371G>A (p.Trp124Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/984301", "RCV": [ "RCV001264311" ], "variationId": 984301 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.65548086G>A?assembly=hg19", "id": "chr7:g.65548086G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.66083099G>A?assembly=hg38", "id": "chr7:g.66083099G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1786558070", "rs": 1786558070 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 66083099, "referenceAllele": "G", "start": 66083098 } ], "hgvs": [ "NC_000007.14:g.66083099G>A", "CM000669.2:g.66083099G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 65548086, "referenceAllele": "G", "start": 65548085 } ], "hgvs": [ "NC_000007.13:g.65548086G>A", "CM000669.1:g.65548086G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 65185521, "referenceAllele": "G", "start": 65185520 } ], "hgvs": [ "NC_000007.12:g.65185521G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 12311, "referenceAllele": "G", "start": 12310 } ], "hgvs": [ "NG_009288.1:g.12311G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001544" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 452, "referenceAllele": "G", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000304874.14:c.371G>A" ], "proteinEffect": { "hgvs": "ENSP00000307188.9:p.Trp124Ter", "hgvsWellDefined": "ENSP00000307188.9:p.Trp124_Ala464delinsMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745152", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000304874.14:c.371G>A" }, "RefSeq": { "hgvs": "NM_000048.4:c.371G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307188.9:p.Trp124Ter" }, "RefSeq": { "hgvs": "NP_000039.2:p.Trp124Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 321, "referenceAllele": "G", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000362000.10:c.176G>A" ], "proteinEffect": { "hgvs": "ENSP00000354710.6:p.Trp59Ter", "hgvsWellDefined": "ENSP00000354710.6:p.Trp59_Ala399delinsMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749575" }, { "coordinates": [ { "allele": "A", "end": 606, "referenceAllele": "G", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000380839.9:c.371G>A" ], "proteinEffect": { "hgvs": "ENSP00000370219.4:p.Trp124Ter", "hgvsWellDefined": "ENSP00000370219.4:p.Trp124_Ala438delinsMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752449" }, { "coordinates": [ { "allele": "A", "end": 509, "referenceAllele": "G", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395331.4:c.371G>A" ], "proteinEffect": { "hgvs": "ENSP00000378740.3:p.Trp124Ter", "hgvsWellDefined": "ENSP00000378740.3:p.Trp124_Ala444delinsMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753384" }, { "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "G", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395332.8:c.371G>A" ], "proteinEffect": { "hgvs": "ENSP00000378741.3:p.Trp124Ter", "hgvsWellDefined": "ENSP00000378741.3:p.Trp124_Ala464delinsMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753385" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000671817.1:c.371G>A" ], "proteinEffect": { "hgvs": "ENSP00000500462.1:p.Trp124Ter", "hgvsWellDefined": "ENSP00000500462.1:p.Trp124Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS773177" }, { "coordinates": [ { "allele": "A", "end": 619, "referenceAllele": "G", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000672498.1:c.371G>A" ], "proteinEffect": { "hgvs": "ENSP00000500227.1:p.Trp124Ter", "hgvsWellDefined": "ENSP00000500227.1:p.Trp124_His163delinsMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaThrGlnLeuTrpGlyHisHisSerGlnGlnHisGlyCysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773401" }, { "coordinates": [ { "allele": "A", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000672586.1:n.276G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773425" }, { "coordinates": [ { "allele": "A", "end": 541, "referenceAllele": "G", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000672676.1:n.541G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773454" }, { "coordinates": [ { "allele": "A", "end": 183, "referenceAllele": "G", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000673149.1:n.183G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773598" }, { "coordinates": [ { "allele": "A", "end": 619, "referenceAllele": "G", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000673350.1:n.619G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773654" }, { "coordinates": [ { "allele": "A", "end": 449, "referenceAllele": "G", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000673518.1:c.371G>A" ], "proteinEffect": { "hgvs": "ENSP00000499889.1:p.Trp124Ter", "hgvsWellDefined": "ENSP00000499889.1:p.Trp124_Ala438delinsMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773711" }, { "coordinates": [ { "allele": "A", "end": 220, "referenceAllele": "G", "start": 219 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000673594.1:n.220G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773729" }, { "coordinates": [ { "allele": "A", "end": 473, "referenceAllele": "G", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000304874.13:c.371G>A" ], "proteinEffect": { "hgvs": "ENSP00000307188.9:p.Trp124Ter", "hgvsWellDefined": "ENSP00000307188.9:p.Trp124_Ala464delinsMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255521" }, { "coordinates": [ { "allele": "A", "end": 378, "referenceAllele": "G", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000362000.9:c.176G>A" ], "proteinEffect": { "hgvs": "ENSP00000354710.5:p.Trp59Ter", "hgvsWellDefined": "ENSP00000354710.5:p.Trp59_Val242del" }, "referenceSequence": "http://reg.genome.network/refseq/RS265746" }, { "coordinates": [ { "allele": "A", "end": 587, "referenceAllele": "G", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000380839.8:c.371G>A" ], "proteinEffect": { "hgvs": "ENSP00000370219.4:p.Trp124Ter", "hgvsWellDefined": "ENSP00000370219.4:p.Trp124_Ala438delinsMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273115" }, { "coordinates": [ { "allele": "A", "end": 569, "referenceAllele": "G", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395331.3:c.371G>A" ], "proteinEffect": { "hgvs": "ENSP00000378740.3:p.Trp124Ter", "hgvsWellDefined": "ENSP00000378740.3:p.Trp124_Ala444delinsMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276634" }, { "coordinates": [ { "allele": "A", "end": 579, "referenceAllele": "G", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395332.7:c.371G>A" ], "proteinEffect": { "hgvs": "ENSP00000378741.3:p.Trp124Ter", "hgvsWellDefined": "ENSP00000378741.3:p.Trp124_Ala464delinsMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276635" }, { "coordinates": [ { "allele": "A", "end": 437, "referenceAllele": "G", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000487982.5:n.437G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS326409" }, { "coordinates": [ { "allele": "A", "end": 752, "referenceAllele": "G", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000496336.1:n.752G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS332834" }, { "@id": "http://reg.genome.network/allele/PA2825028290", "coordinates": [ { "allele": "A", "end": 482, "referenceAllele": "G", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_000048.3:c.371G>A" ], "proteinEffect": { "hgvs": "NP_000039.2:p.Trp124Ter", "hgvsWellDefined": "NP_000039.2:p.Trp124_Ala464delinsMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006113" }, { "@id": "http://reg.genome.network/allele/PA2825338078", "coordinates": [ { "allele": "A", "end": 606, "referenceAllele": "G", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024943.1:c.371G>A" ], "proteinEffect": { "hgvs": "NP_001020114.1:p.Trp124Ter", "hgvsWellDefined": "NP_001020114.1:p.Trp124_Ala464delinsMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008813" }, { "@id": "http://reg.genome.network/allele/PA2825338432", "coordinates": [ { "allele": "A", "end": 606, "referenceAllele": "G", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024944.1:c.371G>A" ], "proteinEffect": { "hgvs": "NP_001020115.1:p.Trp124Ter", "hgvsWellDefined": "NP_001020115.1:p.Trp124_Ala444delinsMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008814" }, { "@id": "http://reg.genome.network/allele/PA1139670226", "coordinates": [ { "allele": "A", "end": 606, "referenceAllele": "G", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024946.1:c.371G>A" ], "proteinEffect": { "hgvs": "NP_001020117.1:p.Trp124Ter", "hgvsWellDefined": "NP_001020117.1:p.Trp124_Ala438delinsMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008815" }, { "@id": "http://reg.genome.network/allele/PA2825028290", "coordinates": [ { "allele": "A", "end": 452, "referenceAllele": "G", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_000048.4:c.371G>A" ], "proteinEffect": { "hgvs": "NP_000039.2:p.Trp124Ter", "hgvsWellDefined": "NP_000039.2:p.Trp124_Ala464delinsMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674677", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000304874.14:c.371G>A" }, "RefSeq": { "hgvs": "NM_000048.4:c.371G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307188.9:p.Trp124Ter" }, "RefSeq": { "hgvs": "NP_000039.2:p.Trp124Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825338078", "coordinates": [ { "allele": "A", "end": 634, "referenceAllele": "G", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024943.2:c.371G>A" ], "proteinEffect": { "hgvs": "NP_001020114.1:p.Trp124Ter", "hgvsWellDefined": "NP_001020114.1:p.Trp124_Ala464delinsMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675647" }, { "@id": "http://reg.genome.network/allele/PA2825338432", "coordinates": [ { "allele": "A", "end": 634, "referenceAllele": "G", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024944.2:c.371G>A" ], "proteinEffect": { "hgvs": "NP_001020115.1:p.Trp124Ter", "hgvsWellDefined": "NP_001020115.1:p.Trp124_Ala444delinsMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675648" }, { "@id": "http://reg.genome.network/allele/PA1139670226", "coordinates": [ { "allele": "A", "end": 634, "referenceAllele": "G", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024946.2:c.371G>A" ], "proteinEffect": { "hgvs": "NP_001020117.1:p.Trp124Ter", "hgvsWellDefined": "NP_001020117.1:p.Trp124_Ala438delinsMetArgGlnThrCysSerThrLeuSerGlyLeuLeuTrpGluLeuIleArgThrMetValAspArgAlaGluAlaGluArgAspValLeuPheProGlyTyrThrHisLeuGlnArgAlaGlnProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675649" } ], "type": "nucleotide" }