{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA278383", "communityStandardTitle": [ "NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47160[alleleid]", "alleleId": 47160, "preferredName": "NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38569", "RCV": [ "RCV000032015" ], "variationId": 38569 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.15686521G>A?assembly=hg19", "id": "chr3:g.15686521G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.15645014G>A?assembly=hg38", "id": "chr3:g.15645014G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397514434", "rs": 397514434 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 15645014, "referenceAllele": "G", "start": 15645013 } ], "hgvs": [ "NC_000003.12:g.15645014G>A", "CM000665.2:g.15645014G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 15686521, "referenceAllele": "G", "start": 15686520 } ], "hgvs": [ "NC_000003.11:g.15686521G>A", "CM000665.1:g.15686521G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 15661525, "referenceAllele": "G", "start": 15661524 } ], "hgvs": [ "NC_000003.10:g.15661525G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 48267, "referenceAllele": "G", "start": 48266 } ], "hgvs": [ "NG_008019.1:g.48267G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000779" }, { "coordinates": [ { "allele": "A", "end": 48663, "referenceAllele": "G", "start": 48662 } ], "hgvs": [ "NG_008019.2:g.48663G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706077" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1456, "referenceAllele": "G", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000436193.6:c.1098G>A" ], "proteinEffect": { "hgvs": "ENSP00000394277.2:p.Trp366Ter", "hgvsWellDefined": "ENSP00000394277.2:p.Trp366_Asp523delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914065" }, { "coordinates": [ { "allele": "A", "end": 565, "endIntronDirection": "+", "endIntronOffset": 2957, "referenceAllele": "G", "start": 565, "startIntronDirection": "+", "startIntronOffset": 2956 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000671928.2:c.399+2957G>A" ], "proteinEffect": { "hgvs": "ENSP00000500069.2:n.399+2957G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914442" }, { "coordinates": [ { "allele": "A", "end": 1181, "endIntronDirection": "+", "endIntronOffset": 83, "referenceAllele": "G", "start": 1181, "startIntronDirection": "+", "startIntronOffset": 82 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672892.2:c.1015+83G>A" ], "proteinEffect": { "hgvs": "ENSP00000499944.2:n.1015+83G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914445" }, { "coordinates": [ { "allele": "A", "end": 1549, "referenceAllele": "G", "start": 1548 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000303498.10:c.1098G>A" ], "proteinEffect": { "hgvs": "ENSP00000306477.6:p.Trp366Ter", "hgvsWellDefined": "ENSP00000306477.6:p.Trp366_Asp523delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745035" }, { "coordinates": [ { "allele": "A", "end": 1421, "referenceAllele": "G", "start": 1420 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000427382.2:c.1098G>A" ], "proteinEffect": { "hgvs": "ENSP00000397113.2:p.Trp366Ter", "hgvsWellDefined": "ENSP00000397113.2:p.Trp366_Asp523delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755176" }, { "coordinates": [ { "allele": "A", "end": 1396, "referenceAllele": "G", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000437172.6:c.1098G>A" ], "proteinEffect": { "hgvs": "ENSP00000400995.2:p.Trp366Ter", "hgvsWellDefined": "ENSP00000400995.2:p.Trp366_Asp523delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755651" }, { "coordinates": [ { "allele": "A", "end": 1515, "referenceAllele": "G", "start": 1514 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000449107.7:c.1098G>A" ], "proteinEffect": { "hgvs": "ENSP00000388212.2:p.Trp366Ter", "hgvsWellDefined": "ENSP00000388212.2:p.Trp366_Asp523delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756215" }, { "coordinates": [ { "allele": "A", "end": 1264, "referenceAllele": "G", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000643237.3:c.1098G>A" ], "proteinEffect": { "hgvs": "ENSP00000495254.2:p.Trp366Ter", "hgvsWellDefined": "ENSP00000495254.2:p.Trp366_Asp523delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767167", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643237.3:c.1098G>A" }, "RefSeq": { "hgvs": "NM_001370658.1:c.1098G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495254.2:p.Trp366Ter" }, "RefSeq": { "hgvs": "NP_001357587.1:p.Trp366Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1409, "referenceAllele": "G", "start": 1408 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000646371.1:c.1098G>A" ], "proteinEffect": { "hgvs": "ENSP00000495866.1:p.Trp366Ter", "hgvsWellDefined": "ENSP00000495866.1:p.Trp366_Asp523delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768834" }, { "coordinates": [ { "allele": "A", "end": 165, "endIntronDirection": "+", "endIntronOffset": 2957, "referenceAllele": "G", "start": 165, "startIntronDirection": "+", "startIntronOffset": 2956 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000671928.1:c.165+2957G>A" ], "proteinEffect": { "hgvs": "ENSP00000500069.1:n.165+2957G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773213" }, { "coordinates": [ { "allele": "A", "end": 1264, "referenceAllele": "G", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672065.1:c.1158G>A" ], "proteinEffect": { "hgvs": "ENSP00000500403.1:p.Trp386Ter", "hgvsWellDefined": "ENSP00000500403.1:p.Trp386_Asp543delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773257" }, { "coordinates": [ { "allele": "A", "end": 1452, "referenceAllele": "G", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672112.1:c.1164G>A" ], "proteinEffect": { "hgvs": "ENSP00000500193.1:p.Trp388Ter", "hgvsWellDefined": "ENSP00000500193.1:p.Trp388_Asp545delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773275" }, { "coordinates": [ { "allele": "A", "end": 565, "endIntronDirection": "+", "endIntronOffset": 2957, "referenceAllele": "G", "start": 565, "startIntronDirection": "+", "startIntronOffset": 2956 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672141.1:c.399+2957G>A" ], "proteinEffect": { "hgvs": "ENSP00000500210.1:n.399+2957G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773287" }, { "coordinates": [ { "allele": "A", "end": 1167, "endIntronDirection": "+", "endIntronOffset": 83, "referenceAllele": "G", "start": 1167, "startIntronDirection": "+", "startIntronOffset": 82 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672427.1:c.1015+83G>A" ], "proteinEffect": { "hgvs": "ENSP00000500131.1:n.1015+83G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773382" }, { "coordinates": [ { "allele": "A", "end": 529, "endIntronDirection": "+", "endIntronOffset": 2957, "referenceAllele": "G", "start": 529, "startIntronDirection": "+", "startIntronOffset": 2956 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672760.1:c.399+2957G>A" ], "proteinEffect": { "hgvs": "ENSP00000500530.1:n.399+2957G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773481" }, { "coordinates": [ { "allele": "A", "end": 793, "endIntronDirection": "+", "endIntronOffset": 83, "referenceAllele": "G", "start": 793, "startIntronDirection": "+", "startIntronOffset": 82 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000672892.1:c.793+83G>A" ], "proteinEffect": { "hgvs": "ENSP00000499944.1:n.793+83G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773531" }, { "coordinates": [ { "allele": "A", "end": 532, "endIntronDirection": "+", "endIntronOffset": 2957, "referenceAllele": "G", "start": 532, "startIntronDirection": "+", "startIntronOffset": 2956 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000673467.1:c.399+2957G>A" ], "proteinEffect": { "hgvs": "ENSP00000500288.1:n.399+2957G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773694" }, { "coordinates": [ { "allele": "A", "end": 460, "endIntronDirection": "+", "endIntronOffset": 2957, "referenceAllele": "G", "start": 460, "startIntronDirection": "+", "startIntronOffset": 2956 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000673620.1:c.399+2957G>A" ], "proteinEffect": { "hgvs": "ENSP00000500325.1:n.399+2957G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773737" }, { "coordinates": [ { "allele": "A", "end": 1267, "referenceAllele": "G", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000303498.9:c.1158G>A" ], "proteinEffect": { "hgvs": "ENSP00000306477.5:p.Trp386Ter", "hgvsWellDefined": "ENSP00000306477.5:p.Trp386_Asp543delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255323" }, { "coordinates": [ { "allele": "A", "end": 1456, "referenceAllele": "G", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000383778.5:c.1098G>A" ], "proteinEffect": { "hgvs": "ENSP00000373288.4:p.Trp366Ter", "hgvsWellDefined": "ENSP00000373288.4:p.Trp366_Asp523delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274028" }, { "coordinates": [ { "allele": "A", "end": 1396, "referenceAllele": "G", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000437172.5:c.1164G>A" ], "proteinEffect": { "hgvs": "ENSP00000400995.1:p.Trp388Ter", "hgvsWellDefined": "ENSP00000400995.1:p.Trp388_Asp545delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294336" }, { "coordinates": [ { "allele": "A", "end": 1252, "referenceAllele": "G", "start": 1251 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "ENST00000449107.5:c.1164G>A" ], "proteinEffect": { "hgvs": "ENSP00000388212.1:p.Trp388Ter", "hgvsWellDefined": "ENSP00000388212.1:p.Trp388_Asp545delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS300046" }, { "@id": "http://reg.genome.network/allele/PA278294", "coordinates": [ { "allele": "A", "end": 1264, "referenceAllele": "G", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_000060.3:c.1158G>A" ], "proteinEffect": { "hgvs": "NP_000051.1:p.Trp386Ter", "hgvsWellDefined": "NP_000051.1:p.Trp386_Asp543delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006124" }, { "coordinates": [ { "allele": "A", "end": 1533, "referenceAllele": "G", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281723.1:c.1164G>A" ], "proteinEffect": { "hgvs": "NP_001268652.1:p.Trp388Ter", "hgvsWellDefined": "NP_001268652.1:p.Trp388_Asp545delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021687" }, { "coordinates": [ { "allele": "A", "end": 1452, "referenceAllele": "G", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281724.1:c.1164G>A" ], "proteinEffect": { "hgvs": "NP_001268653.1:p.Trp388Ter", "hgvsWellDefined": "NP_001268653.1:p.Trp388_Asp545delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021688" }, { "@id": "http://reg.genome.network/allele/PA2826592034", "coordinates": [ { "allele": "A", "end": 1456, "referenceAllele": "G", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281725.1:c.1098G>A" ], "proteinEffect": { "hgvs": "NP_001268654.1:p.Trp366Ter", "hgvsWellDefined": "NP_001268654.1:p.Trp366_Asp523delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021689" }, { "coordinates": [ { "allele": "A", "end": 1484, "referenceAllele": "G", "start": 1483 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_006713314.2:c.1098G>A" ], "proteinEffect": { "hgvs": "XP_006713377.1:p.Trp366Ter", "hgvsWellDefined": "XP_006713377.1:p.Trp366_Asp523delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070104" }, { "coordinates": [ { "allele": "A", "end": 1381, "referenceAllele": "G", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_011534041.1:c.1098G>A" ], "proteinEffect": { "hgvs": "XP_011532343.1:p.Trp366Ter", "hgvsWellDefined": "XP_011532343.1:p.Trp366_Asp523delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101059" }, { "@id": "http://reg.genome.network/allele/PA278294", "coordinates": [ { "allele": "A", "end": 1264, "referenceAllele": "G", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_000060.4:c.1158G>A" ], "proteinEffect": { "hgvs": "NP_000051.1:p.Trp386Ter", "hgvsWellDefined": "NP_000051.1:p.Trp386_Asp543delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510748" }, { "coordinates": [ { "allele": "A", "end": 1533, "referenceAllele": "G", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281723.2:c.1164G>A" ], "proteinEffect": { "hgvs": "NP_001268652.1:p.Trp388Ter", "hgvsWellDefined": "NP_001268652.1:p.Trp388_Asp545delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512079" }, { "coordinates": [ { "allele": "A", "end": 1452, "referenceAllele": "G", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281724.2:c.1164G>A" ], "proteinEffect": { "hgvs": "NP_001268653.1:p.Trp388Ter", "hgvsWellDefined": "NP_001268653.1:p.Trp388_Asp545delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512080" }, { "@id": "http://reg.genome.network/allele/PA2826592034", "coordinates": [ { "allele": "A", "end": 1456, "referenceAllele": "G", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281725.2:c.1098G>A" ], "proteinEffect": { "hgvs": "NP_001268654.1:p.Trp366Ter", "hgvsWellDefined": "NP_001268654.1:p.Trp366_Asp523delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512081" }, { "@id": "http://reg.genome.network/allele/PA2827195915", "coordinates": [ { "allele": "A", "end": 1540, "referenceAllele": "G", "start": 1539 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001323582.1:c.1098G>A" ], "proteinEffect": { "hgvs": "NP_001310511.1:p.Trp366Ter", "hgvsWellDefined": "NP_001310511.1:p.Trp366_Asp523delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515472" }, { "coordinates": [ { "allele": "A", "end": 1381, "referenceAllele": "G", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_011534041.2:c.1098G>A" ], "proteinEffect": { "hgvs": "XP_011532343.1:p.Trp366Ter", "hgvsWellDefined": "XP_011532343.1:p.Trp366_Asp523delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551484" }, { "coordinates": [ { "allele": "A", "end": 1657, "referenceAllele": "G", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_017007088.1:c.1098G>A" ], "proteinEffect": { "hgvs": "XP_016862577.1:p.Trp366Ter", "hgvsWellDefined": "XP_016862577.1:p.Trp366_Asp523delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561945" }, { "coordinates": [ { "allele": "A", "end": 1491, "referenceAllele": "G", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_024453724.1:c.1098G>A" ], "proteinEffect": { "hgvs": "XP_024309492.1:p.Trp366Ter", "hgvsWellDefined": "XP_024309492.1:p.Trp366_Asp523delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587099" }, { "@id": "http://reg.genome.network/allele/PA2826590043", "coordinates": [ { "allele": "A", "end": 1533, "referenceAllele": "G", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281723.3:c.1098G>A" ], "proteinEffect": { "hgvs": "NP_001268652.2:p.Trp366Ter", "hgvsWellDefined": "NP_001268652.2:p.Trp366_Asp523delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681660" }, { "@id": "http://reg.genome.network/allele/PA2826591065", "coordinates": [ { "allele": "A", "end": 1452, "referenceAllele": "G", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281724.3:c.1098G>A" ], "proteinEffect": { "hgvs": "NP_001268653.2:p.Trp366Ter", "hgvsWellDefined": "NP_001268653.2:p.Trp366_Asp523delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681661" }, { "@id": "http://reg.genome.network/allele/PA916048557", "coordinates": [ { "allele": "A", "end": 1264, "referenceAllele": "G", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001370658.1:c.1098G>A" ], "proteinEffect": { "hgvs": "NP_001357587.1:p.Trp366Ter", "hgvsWellDefined": "NP_001357587.1:p.Trp366_Asp523delinsAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692577", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643237.3:c.1098G>A" }, "RefSeq": { "hgvs": "NM_001370658.1:c.1098G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495254.2:p.Trp366Ter" }, "RefSeq": { "hgvs": "NP_001357587.1:p.Trp366Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1181, "endIntronDirection": "+", "endIntronOffset": 83, "referenceAllele": "G", "start": 1181, "startIntronDirection": "+", "startIntronOffset": 82 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001370752.1:c.1015+83G>A" ], "proteinEffect": { "hgvs": "NP_001357681.1:n.1015+83G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS692598" }, { "coordinates": [ { "allele": "A", "end": 565, "endIntronDirection": "+", "endIntronOffset": 2957, "referenceAllele": "G", "start": 565, "startIntronDirection": "+", "startIntronOffset": 2956 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001370753.1:c.399+2957G>A" ], "proteinEffect": { "hgvs": "NP_001357682.1:n.399+2957G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS692599" }, { "coordinates": [ { "allele": "A", "end": 3522, "referenceAllele": "G", "start": 3521 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281726.2:c.*2876G>A" ], "proteinEffect": { "hgvs": "NP_001268655.2:n.*2876G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS715719" } ], "type": "nucleotide" }