{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA355945559", "communityStandardTitle": [ "NM_000203.5(IDUA):c.122G>A (p.Trp41Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.980994G>A?assembly=hg19", "id": "chr4:g.980994G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.987206G>A?assembly=hg38", "id": "chr4:g.987206G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2534003964", "rs": 2534003964 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-987206-G-A?dataset=gnomad_r4", "id": "4-987206-G-A", "variant": "4:987206 G / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 987206, "referenceAllele": "G", "start": 987205 } ], "hgvs": [ "NC_000004.12:g.987206G>A", "CM000666.2:g.987206G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 980994, "referenceAllele": "G", "start": 980993 } ], "hgvs": [ "NC_000004.11:g.980994G>A", "CM000666.1:g.980994G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 970994, "referenceAllele": "G", "start": 970993 } ], "hgvs": [ "NC_000004.10:g.970994G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 5210, "referenceAllele": "G", "start": 5209 } ], "hgvs": [ "NG_008103.1:g.5210G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000848" }, { "coordinates": [ { "allele": "T", "end": 11231, "referenceAllele": "C", "start": 11230 } ], "hgvs": [ "NG_033042.1:g.11231C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005375" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 210, "referenceAllele": "G", "start": 209 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000247933.9:c.122G>A" ], "proteinEffect": { "hgvs": "ENSP00000247933.4:p.Trp41Ter", "hgvsWellDefined": "ENSP00000247933.4:p.Trp41_Pro653delinsProLeuArgArgPheTrpArgSerThrGlyPheCysProProLeuProHisSerGlnAlaAspGlnTyrValLeuSerTrpAspGlnGlnLeuAsnLeuAlaTyrValGlyAlaValProHisArgGlyIleLysGlnValArgThrHisTrpLeuLeuGluLeuValThrThrArgGlySerThrGlyArgGlyLeuSerTyrAsnPheThrHisLeuAspGlyTyrLeuAspLeuLeuArgGluAsnGlnLeuLeuProGlyPheGluLeuMetGlySerAlaSerGlyHisPheThrAspPheGluAspLysGlnGlnValPheGluTrpLysAspLeuValSerSerLeuAlaArgArgTyrIleGlyArgTyrGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741345" }, { "coordinates": [ { "allele": "A", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514224.2:c.122G>A" ], "proteinEffect": { "hgvs": "ENSP00000425081.2:p.Trp41Ter", "hgvsWellDefined": "ENSP00000425081.2:p.Trp41_Pro653delinsProLeuArgArgPheTrpArgSerThrGlyPheCysProProLeuProHisSerGlnAlaAspGlnTyrValLeuSerTrpAspGlnGlnLeuAsnLeuAlaTyrValGlyAlaValProHisArgGlyIleLysGlnValArgThrHisTrpLeuLeuGluLeuValThrThrArgGlySerThrGlyArgGlyLeuSerTyrAsnPheThrHisLeuAspGlyTyrLeuAspLeuLeuArgGluAsnGlnLeuLeuProGlyPheGluLeuMetGlySerAlaSerGlyHisPheThrAspPheGluAspLysGlnGlnValPheGluTrpLysAspLeuValSerSerLeuAlaArgArgTyrIleGlyArgTyrGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.122G>A" }, "RefSeq": { "hgvs": "NM_000203.5:c.122G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Trp41Ter" }, "RefSeq": { "hgvs": "NP_000194.2:p.Trp41Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 210, "referenceAllele": "G", "start": 209 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000247933.8:c.122G>A" ], "proteinEffect": { "hgvs": "ENSP00000247933.4:p.Trp41Ter", "hgvsWellDefined": "ENSP00000247933.4:p.Trp41_Pro653delinsProLeuArgArgPheTrpArgSerThrGlyPheCysProProLeuProHisSerGlnAlaAspGlnTyrValLeuSerTrpAspGlnGlnLeuAsnLeuAlaTyrValGlyAlaValProHisArgGlyIleLysGlnValArgThrHisTrpLeuLeuGluLeuValThrThrArgGlySerThrGlyArgGlyLeuSerTyrAsnPheThrHisLeuAspGlyTyrLeuAspLeuLeuArgGluAsnGlnLeuLeuProGlyPheGluLeuMetGlySerAlaSerGlyHisPheThrAspPheGluAspLysGlnGlnValPheGluTrpLysAspLeuValSerSerLeuAlaArgArgTyrIleGlyArgTyrGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249529" }, { "coordinates": [ { "allele": "T", "end": 679, "endIntronDirection": "+", "endIntronOffset": 3922, "referenceAllele": "C", "start": 679, "startIntronDirection": "+", "startIntronOffset": 3921 } ], "gene": "http://reg.genome.network/gene/GN010993", "geneNCBI_id": 10861, "geneSymbol": "SLC26A1", "hgvs": [ "ENST00000398520.6:c.576+3922C>T" ], "proteinEffect": { "hgvs": "ENSP00000381532.2:n.576+3922C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS278303" }, { "coordinates": [ { "allele": "A", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000502910.5:c.122G>A" ], "proteinEffect": { "hgvs": "ENSP00000422952.1:p.Trp41Ter", "hgvsWellDefined": "ENSP00000422952.1:p.Trp41Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS335357" }, { "coordinates": [ { "allele": "A", "end": 120, "referenceAllele": "G", "start": 119 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000504568.5:c.120G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS336592" }, { "coordinates": [ { "allele": "A", "end": 131, "referenceAllele": "G", "start": 130 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000506561.5:n.131G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS338073" }, { "coordinates": [ { "allele": "A", "end": 141, "referenceAllele": "G", "start": 140 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000508168.5:n.141G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS339260" }, { "coordinates": [ { "allele": "A", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514698.5:n.163G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS344122" }, { "coordinates": [ { "allele": "T", "end": 958, "endIntronDirection": "+", "endIntronOffset": 3922, "referenceAllele": "C", "start": 958, "startIntronDirection": "+", "startIntronOffset": 3921 } ], "gene": "http://reg.genome.network/gene/GN010993", "geneNCBI_id": 10861, "geneSymbol": "SLC26A1", "hgvs": [ "ENST00000622731.4:c.576+3922C>T" ], "proteinEffect": { "hgvs": "ENSP00000483506.1:n.576+3922C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS405859" }, { "@id": "http://reg.genome.network/allele/PA2741812086", "coordinates": [ { "allele": "A", "end": 210, "referenceAllele": "G", "start": 209 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.4:c.122G>A" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Trp41Ter", "hgvsWellDefined": "NP_000194.2:p.Trp41_Pro653delinsProLeuArgArgPheTrpArgSerThrGlyPheCysProProLeuProHisSerGlnAlaAspGlnTyrValLeuSerTrpAspGlnGlnLeuAsnLeuAlaTyrValGlyAlaValProHisArgGlyIleLysGlnValArgThrHisTrpLeuLeuGluLeuValThrThrArgGlySerThrGlyArgGlyLeuSerTyrAsnPheThrHisLeuAspGlyTyrLeuAspLeuLeuArgGluAsnGlnLeuLeuProGlyPheGluLeuMetGlySerAlaSerGlyHisPheThrAspPheGluAspLysGlnGlnValPheGluTrpLysAspLeuValSerSerLeuAlaArgArgTyrIleGlyArgTyrGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006267" }, { "coordinates": [ { "allele": "T", "end": 743, "endIntronDirection": "+", "endIntronOffset": 3922, "referenceAllele": "C", "start": 743, "startIntronDirection": "+", "startIntronOffset": 3921 } ], "gene": "http://reg.genome.network/gene/GN010993", "geneNCBI_id": 10861, "geneSymbol": "SLC26A1", "hgvs": [ "NM_134425.2:c.576+3922C>T" ], "proteinEffect": { "hgvs": "NP_602297.1:n.576+3922C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS040598" }, { "coordinates": [ { "allele": "A", "end": 210, "referenceAllele": "G", "start": 209 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NR_110313.1:n.210G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS054592" }, { "coordinates": [ { "allele": "A", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513459.1:c.122G>A" ], "proteinEffect": { "hgvs": "XP_011511761.1:p.Trp41Ter", "hgvsWellDefined": "XP_011511761.1:p.Trp41_Pro675delinsProLeuArgArgPheTrpArgSerThrGlyPheTrpGlySerThrGlyArgGlyLeuSerTyrAsnPheThrHisLeuAspGlyTyrLeuAspLeuLeuArgGluAsnGlnLeuLeuProGlyPheGluLeuMetGlySerAlaSerGlyHisPheThrAspPheGluAspLysGlnGlnValPheGluTrpLysAspLeuValSerSerLeuAlaArgArgTyrIleGlyArgTyrGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysValArgProAlaProProSerAlaProValPheCysAlaLeuSerArgCysAlaProGlyArgAlaAspProGlyGlyAlaGluAlaAlaProProAlaGlyCysAlaGlnLeuHisLeuHisProGlyAlaGlyGluGlyArgArgAlaAlaAspProAlaAlaLeuProGlnValArgGlyHisProHisLeuGlnArgArgGlyGlyProAlaGlyGlyLeuValProAlaThrAlaValGluGlyGlyArgAspLeuArgGlyHisGlyGlyGluGlyGlyProAlaGlnArgProAlaArgProProAlaThrPheLeuProArgArgAspArgArgAlaValAlaAlaProProGlyProSerCysProGlyHisProGlnValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080706" }, { "coordinates": [ { "allele": "A", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513460.1:c.122G>A" ], "proteinEffect": { "hgvs": "XP_011511762.1:p.Trp41Ter", "hgvsWellDefined": "XP_011511762.1:p.Trp41_Pro606delinsProLeuArgArgPheTrpArgSerThrGlyPheTrpGlySerThrGlyArgGlyLeuSerTyrAsnPheThrHisLeuAspGlyTyrLeuAspLeuLeuArgGluAsnGlnLeuLeuProGlyPheGluLeuMetGlySerAlaSerGlyHisPheThrAspPheGluAspLysGlnGlnValPheGluTrpLysAspLeuValSerSerLeuAlaArgArgTyrIleGlyArgTyrGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080707" }, { "coordinates": [ { "allele": "A", "end": 191, "referenceAllele": "G", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XR_924947.1:n.191G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS121993" }, { "@id": "http://reg.genome.network/allele/PA2741812086", "coordinates": [ { "allele": "A", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.5:c.122G>A" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Trp41Ter", "hgvsWellDefined": "NP_000194.2:p.Trp41_Pro653delinsProLeuArgArgPheTrpArgSerThrGlyPheCysProProLeuProHisSerGlnAlaAspGlnTyrValLeuSerTrpAspGlnGlnLeuAsnLeuAlaTyrValGlyAlaValProHisArgGlyIleLysGlnValArgThrHisTrpLeuLeuGluLeuValThrThrArgGlySerThrGlyArgGlyLeuSerTyrAsnPheThrHisLeuAspGlyTyrLeuAspLeuLeuArgGluAsnGlnLeuLeuProGlyPheGluLeuMetGlySerAlaSerGlyHisPheThrAspPheGluAspLysGlnGlnValPheGluTrpLysAspLeuValSerSerLeuAlaArgArgTyrIleGlyArgTyrGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510765", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.122G>A" }, "RefSeq": { "hgvs": "NM_000203.5:c.122G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Trp41Ter" }, "RefSeq": { "hgvs": "NP_000194.2:p.Trp41Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 158, "referenceAllele": "G", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_017008163.1:c.-1345G>A" ], "proteinEffect": { "hgvs": "XP_016863652.1:n.-1345G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562720" }, { "coordinates": [ { "allele": "T", "end": 707, "endIntronDirection": "+", "endIntronOffset": 3922, "referenceAllele": "C", "start": 707, "startIntronDirection": "+", "startIntronOffset": 3921 } ], "gene": "http://reg.genome.network/gene/GN010993", "geneNCBI_id": 10861, "geneSymbol": "SLC26A1", "hgvs": [ "NM_134425.3:c.576+3922C>T" ], "proteinEffect": { "hgvs": "NP_602297.1:n.576+3922C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS699687" }, { "coordinates": [ { "allele": "T", "end": 707, "endIntronDirection": "+", "endIntronOffset": 3922, "referenceAllele": "C", "start": 707, "startIntronDirection": "+", "startIntronOffset": 3921 } ], "gene": "http://reg.genome.network/gene/GN010993", "geneNCBI_id": 10861, "geneSymbol": "SLC26A1", "hgvs": [ "NM_134425.4:c.576+3922C>T" ], "proteinEffect": { "hgvs": "NP_602297.1:n.576+3922C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS729126" } ], "type": "nucleotide" }