{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA117422", "communityStandardTitle": [ "NM_016006.6(ABHD5):c.98C>G (p.Ser33Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20387[alleleid]", "alleleId": 20387, "preferredName": "NM_016006.6(ABHD5):c.98C>G (p.Ser33Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5348", "RCV": [ "RCV000005677" ], "variationId": 5348 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.43740818C>G?assembly=hg19", "id": "chr3:g.43740818C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.43699326C>G?assembly=hg38", "id": "chr3:g.43699326C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104893675", "rs": 104893675 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 43699326, "referenceAllele": "C", "start": 43699325 } ], "hgvs": [ "NC_000003.12:g.43699326C>G", "CM000665.2:g.43699326C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 43740818, "referenceAllele": "C", "start": 43740817 } ], "hgvs": [ "NC_000003.11:g.43740818C>G", "CM000665.1:g.43740818C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 43715822, "referenceAllele": "C", "start": 43715821 } ], "hgvs": [ "NC_000003.10:g.43715822C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "G", "end": 13444, "referenceAllele": "C", "start": 13443 } ], "hgvs": [ "NG_007090.3:g.13444C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000470" }, { "coordinates": [ { "allele": "G", "end": 13457, "referenceAllele": "C", "start": 13456 } ], "hgvs": [ "NG_007090.5:g.13457C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS616067" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 140, "referenceAllele": "C", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "ENST00000013894.3:c.98C>G" ], "proteinEffect": { "hgvs": "ENSP00000013894.2:p.Ser33Ter", "hgvsWellDefined": "ENSP00000013894.2:p.Ser33_Lys44delinsHisLeuLysGluAlaGluGluLysMetLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS739963" }, { "coordinates": [ { "allele": "G", "end": 467, "referenceAllele": "C", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "ENST00000454293.2:c.-26C>G" ], "proteinEffect": { "hgvs": "ENSP00000412014.2:n.-26C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS756459" }, { "coordinates": [ { "allele": "G", "end": 211, "referenceAllele": "C", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "ENST00000458276.7:c.98C>G" ], "proteinEffect": { "hgvs": "ENSP00000390849.3:p.Ser33Ter", "hgvsWellDefined": "ENSP00000390849.3:p.Ser33_Lys278delinsHisLeuLysGluAlaGluGluLysMetLeuLysCysValProCysThrTyrLysLysGluProValArgIleSerAsnGlyAsnLysIleTrpThrLeuLysPheSerHisAsnIleSerAsnLysThrProLeuValLeuLeuHisGlyPheGlyGlyGlyLeuGlyLeuTrpAlaLeuAsnPheGlyAspLeuCysThrAsnArgProValTyrAlaPheAspLeuLeuGlyPheGlyArgSerSerArgProArgPheAspSerAspAlaGluGluValGluAsnGlnPheValGluSerIleGluGluTrpArgCysAlaLeuGlyLeuAspLysMetIleLeuLeuGlyHisAsnLeuGlyGlyPheLeuAlaAlaAlaTyrSerLeuLysTyrProSerArgValAsnHisLeuIleLeuValGluProTrpGlyPheProGluArgProAspLeuAlaAspGlnAspArgProIleProValTrpIleArgAlaLeuGlyAlaAlaLeuThrProPheAsnProLeuAlaGlyLeuArgIleAlaGlyProPheGlyLeuSerLeuValGlnArgLeuArgProAspPheLysArgLysTyrSerSerMetPheGluAspAspThrValThrGluTyrIleTyrHisCysAsnValGlnThrProArgLeuPheLeuGlyGlnAspIleMetTyrMetGlnIleAsnGlnLysAsnSerThrArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756632" }, { "coordinates": [ { "allele": "G", "end": 304, "referenceAllele": "C", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "ENST00000642351.1:c.-26C>G" ], "proteinEffect": { "hgvs": "ENSP00000494478.1:n.-26C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS766692" }, { "coordinates": [ { "allele": "G", "end": 191, "referenceAllele": "C", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "ENST00000643140.1:c.98C>G" ], "proteinEffect": { "hgvs": "ENSP00000495588.1:p.Ser33Ter", "hgvsWellDefined": "ENSP00000495588.1:p.Ser33_Phe50delinsHisLeuLysGluAlaGluGluLysMetLeuLysTrpLeuIleIleSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767111" }, { "coordinates": [ { "allele": "G", "end": 119, "referenceAllele": "C", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "ENST00000643477.1:c.98C>G" ], "proteinEffect": { "hgvs": "ENSP00000496220.1:p.Ser33Ter", "hgvsWellDefined": "ENSP00000496220.1:p.Ser33_Pro84delinsHisLeuLysGluAlaGluGluLysMetLeuLysTyrLeuSerMetLeuLeuThrTyrTrpValLeuAspGluValValAspProGlyLeuThrValMetGlnLysLysTrpArgIleSerLeuTrpAsnProLeuLysSerGlyAspValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767302" }, { "coordinates": [ { "allele": "G", "end": 185, "referenceAllele": "C", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "ENST00000643500.1:c.98C>G" ], "proteinEffect": { "hgvs": "ENSP00000494735.1:p.Ser33Ter", "hgvsWellDefined": "ENSP00000494735.1:p.Ser33_Ile228delinsHisLeuLysGluAlaGluGluLysMetLeuLysCysValProCysThrTyrLysLysGluProValArgIleSerAsnGlyAsnLysIleTrpThrLeuLysPheSerHisAsnIleSerAsnLysThrProLeuValLeuLeuHisGlyPheGlyGlyGlyLeuGlyLeuTrpAlaLeuAsnPheGlyAspLeuCysThrAsnArgProValTyrAlaPheAspLeuLeuGlyPheGlyArgSerSerArgProArgPheAspSerAspAlaGluGluValGluAsnGlnPheValGluSerIleGluGluTrpArgCysAlaLeuGlyLeuAspLysMetIleLeuLeuGlyHisAsnLeuGlyGlyPheLeuAlaAlaAlaTyrSerLeuLysTyrProSerArgValAsnHisLeuIleLeuValGluProTrpGlyPheProGluArgProAspLeuAlaAspGlnAspArgProIleProValTrpIleArgAlaLeuGlyAlaAlaLeuThrProPheAsnProLeuAlaGlyLeuArgIleAlaGlyProPheValValArgGlnLeuSerArgIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767314" }, { "coordinates": [ { "allele": "G", "end": 146, "referenceAllele": "C", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "ENST00000643520.1:n.146C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS767326" }, { "coordinates": [ { "allele": "G", "end": 153, "referenceAllele": "C", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "ENST00000644371.2:c.98C>G" ], "proteinEffect": { "hgvs": "ENSP00000495778.1:p.Ser33Ter", "hgvsWellDefined": "ENSP00000495778.1:p.Ser33_Asp349delinsHisLeuLysGluAlaGluGluLysMetLeuLysCysValProCysThrTyrLysLysGluProValArgIleSerAsnGlyAsnLysIleTrpThrLeuLysPheSerHisAsnIleSerAsnLysThrProLeuValLeuLeuHisGlyPheGlyGlyGlyLeuGlyLeuTrpAlaLeuAsnPheGlyAspLeuCysThrAsnArgProValTyrAlaPheAspLeuLeuGlyPheGlyArgSerSerArgProArgPheAspSerAspAlaGluGluValGluAsnGlnPheValGluSerIleGluGluTrpArgCysAlaLeuGlyLeuAspLysMetIleLeuLeuGlyHisAsnLeuGlyGlyPheLeuAlaAlaAlaTyrSerLeuLysTyrProSerArgValAsnHisLeuIleLeuValGluProTrpGlyPheProGluArgProAspLeuAlaAspGlnAspArgProIleProValTrpIleArgAlaLeuGlyAlaAlaLeuThrProPheAsnProLeuAlaGlyLeuArgIleAlaGlyProPheGlyLeuSerLeuValGlnArgLeuArgProAspPheLysArgLysTyrSerSerMetPheGluAspAspThrValThrGluTyrIleTyrHisCysAsnValGlnThrProSerGlyGluThrAlaPheLysAsnMetThrIleProTyrGlyTrpAlaLysArgProMetLeuGlnArgIleGlyLysMetHisProAspIleProValSerValIlePheGlyAlaArgSerCysIleAspGlyAsnSerGlyThrSerIleGlnSerLeuArgProHisSerTyrValLysThrIleAlaIleLeuGlyAlaGlyHisTyrValTyrAlaAspGlnProGluGluPheAsnGlnLysValLysGluIleCysAspThrValAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767784", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644371.2:c.98C>G" }, "RefSeq": { "hgvs": "NM_016006.6:c.98C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495778.1:p.Ser33Ter" }, "RefSeq": { "hgvs": "NP_057090.2:p.Ser33Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "ENST00000646378.1:c.*148C>G" ], "proteinEffect": { "hgvs": "ENSP00000495826.1:n.*148C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS768837" }, { "coordinates": [ { "allele": "G", "end": 107, "referenceAllele": "C", "start": 106 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "ENST00000646799.1:c.98C>G" ], "proteinEffect": { "hgvs": "ENSP00000494829.1:p.Ser33Ter", "hgvsWellDefined": "ENSP00000494829.1:p.Ser33_Phe50delinsHisLeuLysGluAlaGluGluLysMetLeuLysTrpLeuIleIleSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769071" }, { "coordinates": [ { "allele": "G", "end": 198, "referenceAllele": "C", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "ENST00000649763.1:c.98C>G" ], "proteinEffect": { "hgvs": "ENSP00000497701.1:p.Ser33Ter", "hgvsWellDefined": "ENSP00000497701.1:p.Ser33_Asp349delinsHisLeuLysGluAlaGluGluLysMetLeuLysCysValProCysThrTyrLysLysGluProValArgIleSerAsnGlyAsnLysIleTrpThrLeuLysPheSerHisAsnIleSerAsnLysThrProLeuValLeuLeuHisGlyPheGlyGlyGlyLeuGlyLeuTrpAlaLeuAsnPheGlyAspLeuCysThrAsnArgProValTyrAlaPheAspLeuLeuGlyPheGlyArgSerSerArgProArgPheAspSerAspAlaGluGluValGluAsnGlnPheValGluSerIleGluGluTrpArgCysAlaLeuGlyLeuAspLysMetIleLeuLeuGlyHisAsnLeuGlyGlyPheLeuAlaAlaAlaTyrSerLeuLysTyrProSerArgValAsnHisLeuIleLeuValGluProTrpGlyPheProGluArgProAspLeuAlaAspGlnAspArgProIleProValTrpIleArgAlaLeuGlyAlaAlaLeuThrProPheAsnProLeuAlaGlyLeuArgIleAlaGlyProPheGlyLeuSerLeuValGlnArgLeuArgProAspPheLysArgLysTyrSerSerMetPheGluAspAspThrValThrGluTyrIleTyrHisCysAsnValGlnThrProSerGlyGluThrAlaPheLysAsnMetThrIleProTyrGlyTrpAlaLysArgProMetLeuGlnArgIleGlyLysMetHisProAspIleProValSerValIlePheGlyAlaArgSerCysIleAspGlyAsnSerGlyThrSerIleGlnSerLeuArgProHisSerTyrValLysThrIleAlaIleLeuGlyAlaGlyHisTyrValTyrAlaAspGlnProGluGluPheAsnGlnLysValLysGluIleCysAspThrValAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770730" }, { "coordinates": [ { "allele": "G", "end": 140, "referenceAllele": "C", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "ENST00000013894.2:c.98C>G" ], "proteinEffect": { "hgvs": "ENSP00000013894.2:p.Ser33Ter", "hgvsWellDefined": "ENSP00000013894.2:p.Ser33_Lys44delinsHisLeuLysGluAlaGluGluLysMetLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247505" }, { "coordinates": [ { "allele": "G", "end": 304, "referenceAllele": "C", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "ENST00000454293.1:c.-26C>G" ], "proteinEffect": { "hgvs": "ENSP00000412014.1:n.-26C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS302502" }, { "coordinates": [ { "allele": "G", "end": 471, "referenceAllele": "C", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "ENST00000456453.5:c.-26C>G" ], "proteinEffect": { "hgvs": "ENSP00000391582.1:n.-26C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS303493" }, { "coordinates": [ { "allele": "G", "end": 221, "referenceAllele": "C", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "ENST00000458276.6:c.98C>G" ], "proteinEffect": { "hgvs": "ENSP00000390849.2:p.Ser33Ter", "hgvsWellDefined": "ENSP00000390849.2:p.Ser33_Asp349delinsHisLeuLysGluAlaGluGluLysMetLeuLysCysValProCysThrTyrLysLysGluProValArgIleSerAsnGlyAsnLysIleTrpThrLeuLysPheSerHisAsnIleSerAsnLysThrProLeuValLeuLeuHisGlyPheGlyGlyGlyLeuGlyLeuTrpAlaLeuAsnPheGlyAspLeuCysThrAsnArgProValTyrAlaPheAspLeuLeuGlyPheGlyArgSerSerArgProArgPheAspSerAspAlaGluGluValGluAsnGlnPheValGluSerIleGluGluTrpArgCysAlaLeuGlyLeuAspLysMetIleLeuLeuGlyHisAsnLeuGlyGlyPheLeuAlaAlaAlaTyrSerLeuLysTyrProSerArgValAsnHisLeuIleLeuValGluProTrpGlyPheProGluArgProAspLeuAlaAspGlnAspArgProIleProValTrpIleArgAlaLeuGlyAlaAlaLeuThrProPheAsnProLeuAlaGlyLeuArgIleAlaGlyProPheGlyLeuSerLeuValGlnArgLeuArgProAspPheLysArgLysTyrSerSerMetPheGluAspAspThrValThrGluTyrIleTyrHisCysAsnValGlnThrProSerGlyGluThrAlaPheLysAsnMetThrIleProTyrGlyTrpAlaLysArgProMetLeuGlnArgIleGlyLysMetHisProAspIleProValSerValIlePheGlyAlaArgSerCysIleAspGlyAsnSerGlyThrSerIleGlnSerLeuArgProHisSerTyrValLysThrIleAlaIleLeuGlyAlaGlyHisTyrValTyrAlaAspGlnProGluGluPheAsnGlnLysValLysGluIleCysAspThrValAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304329" }, { "coordinates": [ { "allele": "G", "end": 199, "referenceAllele": "C", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "ENST00000486764.1:n.199C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS325494" }, { "@id": "http://reg.genome.network/allele/PA117423", "coordinates": [ { "allele": "G", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "NM_016006.4:c.98C>G" ], "proteinEffect": { "hgvs": "NP_057090.2:p.Ser33Ter", "hgvsWellDefined": "NP_057090.2:p.Ser33_Asp349delinsHisLeuLysGluAlaGluGluLysMetLeuLysCysValProCysThrTyrLysLysGluProValArgIleSerAsnGlyAsnLysIleTrpThrLeuLysPheSerHisAsnIleSerAsnLysThrProLeuValLeuLeuHisGlyPheGlyGlyGlyLeuGlyLeuTrpAlaLeuAsnPheGlyAspLeuCysThrAsnArgProValTyrAlaPheAspLeuLeuGlyPheGlyArgSerSerArgProArgPheAspSerAspAlaGluGluValGluAsnGlnPheValGluSerIleGluGluTrpArgCysAlaLeuGlyLeuAspLysMetIleLeuLeuGlyHisAsnLeuGlyGlyPheLeuAlaAlaAlaTyrSerLeuLysTyrProSerArgValAsnHisLeuIleLeuValGluProTrpGlyPheProGluArgProAspLeuAlaAspGlnAspArgProIleProValTrpIleArgAlaLeuGlyAlaAlaLeuThrProPheAsnProLeuAlaGlyLeuArgIleAlaGlyProPheGlyLeuSerLeuValGlnArgLeuArgProAspPheLysArgLysTyrSerSerMetPheGluAspAspThrValThrGluTyrIleTyrHisCysAsnValGlnThrProSerGlyGluThrAlaPheLysAsnMetThrIleProTyrGlyTrpAlaLysArgProMetLeuGlnArgIleGlyLysMetHisProAspIleProValSerValIlePheGlyAlaArgSerCysIleAspGlyAsnSerGlyThrSerIleGlnSerLeuArgProHisSerTyrValLysThrIleAlaIleLeuGlyAlaGlyHisTyrValTyrAlaAspGlnProGluGluPheAsnGlnLysValLysGluIleCysAspThrValAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034357" }, { "coordinates": [ { "allele": "G", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "XM_011533779.1:c.-26C>G" ], "proteinEffect": { "hgvs": "XP_011532081.1:n.-26C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS100800" }, { "coordinates": [ { "allele": "G", "end": 155, "referenceAllele": "C", "start": 154 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "XM_011533780.1:c.98C>G" ], "proteinEffect": { "hgvs": "XP_011532082.1:p.Ser33Ter", "hgvsWellDefined": "XP_011532082.1:p.Ser33_Lys278delinsHisLeuLysGluAlaGluGluLysMetLeuLysCysValProCysThrTyrLysLysGluProValArgIleSerAsnGlyAsnLysIleTrpThrLeuLysPheSerHisAsnIleSerAsnLysThrProLeuValLeuLeuHisGlyPheGlyGlyGlyLeuGlyLeuTrpAlaLeuAsnPheGlyAspLeuCysThrAsnArgProValTyrAlaPheAspLeuLeuGlyPheGlyArgSerSerArgProArgPheAspSerAspAlaGluGluValGluAsnGlnPheValGluSerIleGluGluTrpArgCysAlaLeuGlyLeuAspLysMetIleLeuLeuGlyHisAsnLeuGlyGlyPheLeuAlaAlaAlaTyrSerLeuLysTyrProSerArgValAsnHisLeuIleLeuValGluProTrpGlyPheProGluArgProAspLeuAlaAspGlnAspArgProIleProValTrpIleArgAlaLeuGlyAlaAlaLeuThrProPheAsnProLeuAlaGlyLeuArgIleAlaGlyProPheGlyLeuSerLeuValGlnArgLeuArgProAspPheLysArgLysTyrSerSerMetPheGluAspAspThrValThrGluTyrIleTyrHisCysAsnValGlnThrProArgLeuPheLeuGlyGlnAspIleMetTyrMetGlnIleAsnGlnLysAsnSerThrArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100801" }, { "coordinates": [ { "allele": "G", "end": 155, "referenceAllele": "C", "start": 154 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "XR_940447.1:n.155C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS135143" }, { "@id": "http://reg.genome.network/allele/PA2828045531", "coordinates": [ { "allele": "G", "end": 221, "referenceAllele": "C", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "NM_001355186.1:c.98C>G" ], "proteinEffect": { "hgvs": "NP_001342115.1:p.Ser33Ter", "hgvsWellDefined": "NP_001342115.1:p.Ser33_Asp349delinsHisLeuLysGluAlaGluGluLysMetLeuLysCysValProCysThrTyrLysLysGluProValArgIleSerAsnGlyAsnLysIleTrpThrLeuLysPheSerHisAsnIleSerAsnLysThrProLeuValLeuLeuHisGlyPheGlyGlyGlyLeuGlyLeuTrpAlaLeuAsnPheGlyAspLeuCysThrAsnArgProValTyrAlaPheAspLeuLeuGlyPheGlyArgSerSerArgProArgPheAspSerAspAlaGluGluValGluAsnGlnPheValGluSerIleGluGluTrpArgCysAlaLeuGlyLeuAspLysMetIleLeuLeuGlyHisAsnLeuGlyGlyPheLeuAlaAlaAlaTyrSerLeuLysTyrProSerArgValAsnHisLeuIleLeuValGluProTrpGlyPheProGluArgProAspLeuAlaAspGlnAspArgProIleProValTrpIleArgAlaLeuGlyAlaAlaLeuThrProPheAsnProLeuAlaGlyLeuArgIleAlaGlyProPheGlyLeuSerLeuValGlnArgLeuArgProAspPheLysArgLysTyrSerSerMetPheGluAspAspThrValThrGluTyrIleTyrHisCysAsnValGlnThrProSerGlyGluThrAlaPheLysAsnMetThrIleProTyrGlyTrpAlaLysArgProMetLeuGlnArgIleGlyLysMetHisProAspIleProValSerValIlePheGlyAlaArgSerCysIleAspGlyAsnSerGlyThrSerIleGlnSerLeuArgProHisSerTyrValLysThrIleAlaIleLeuGlyAlaGlyHisTyrValTyrAlaAspGlnProGluGluPheAsnGlnLysValLysGluIleCysAspThrValAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522840" }, { "coordinates": [ { "allele": "G", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "NM_001365649.1:c.-26C>G" ], "proteinEffect": { "hgvs": "NP_001352578.1:n.-26C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS524185" }, { "@id": "http://reg.genome.network/allele/PA2828182448", "coordinates": [ { "allele": "G", "end": 221, "referenceAllele": "C", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "NM_001365650.1:c.98C>G" ], "proteinEffect": { "hgvs": "NP_001352579.1:p.Ser33Ter", "hgvsWellDefined": "NP_001352579.1:p.Ser33_Lys278delinsHisLeuLysGluAlaGluGluLysMetLeuLysCysValProCysThrTyrLysLysGluProValArgIleSerAsnGlyAsnLysIleTrpThrLeuLysPheSerHisAsnIleSerAsnLysThrProLeuValLeuLeuHisGlyPheGlyGlyGlyLeuGlyLeuTrpAlaLeuAsnPheGlyAspLeuCysThrAsnArgProValTyrAlaPheAspLeuLeuGlyPheGlyArgSerSerArgProArgPheAspSerAspAlaGluGluValGluAsnGlnPheValGluSerIleGluGluTrpArgCysAlaLeuGlyLeuAspLysMetIleLeuLeuGlyHisAsnLeuGlyGlyPheLeuAlaAlaAlaTyrSerLeuLysTyrProSerArgValAsnHisLeuIleLeuValGluProTrpGlyPheProGluArgProAspLeuAlaAspGlnAspArgProIleProValTrpIleArgAlaLeuGlyAlaAlaLeuThrProPheAsnProLeuAlaGlyLeuArgIleAlaGlyProPheGlyLeuSerLeuValGlnArgLeuArgProAspPheLysArgLysTyrSerSerMetPheGluAspAspThrValThrGluTyrIleTyrHisCysAsnValGlnThrProArgLeuPheLeuGlyGlnAspIleMetTyrMetGlnIleAsnGlnLysAsnSerThrArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524186" }, { "@id": "http://reg.genome.network/allele/PA117423", "coordinates": [ { "allele": "G", "end": 221, "referenceAllele": "C", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "NM_016006.5:c.98C>G" ], "proteinEffect": { "hgvs": "NP_057090.2:p.Ser33Ter", "hgvsWellDefined": "NP_057090.2:p.Ser33_Asp349delinsHisLeuLysGluAlaGluGluLysMetLeuLysCysValProCysThrTyrLysLysGluProValArgIleSerAsnGlyAsnLysIleTrpThrLeuLysPheSerHisAsnIleSerAsnLysThrProLeuValLeuLeuHisGlyPheGlyGlyGlyLeuGlyLeuTrpAlaLeuAsnPheGlyAspLeuCysThrAsnArgProValTyrAlaPheAspLeuLeuGlyPheGlyArgSerSerArgProArgPheAspSerAspAlaGluGluValGluAsnGlnPheValGluSerIleGluGluTrpArgCysAlaLeuGlyLeuAspLysMetIleLeuLeuGlyHisAsnLeuGlyGlyPheLeuAlaAlaAlaTyrSerLeuLysTyrProSerArgValAsnHisLeuIleLeuValGluProTrpGlyPheProGluArgProAspLeuAlaAspGlnAspArgProIleProValTrpIleArgAlaLeuGlyAlaAlaLeuThrProPheAsnProLeuAlaGlyLeuArgIleAlaGlyProPheGlyLeuSerLeuValGlnArgLeuArgProAspPheLysArgLysTyrSerSerMetPheGluAspAspThrValThrGluTyrIleTyrHisCysAsnValGlnThrProSerGlyGluThrAlaPheLysAsnMetThrIleProTyrGlyTrpAlaLysArgProMetLeuGlnArgIleGlyLysMetHisProAspIleProValSerValIlePheGlyAlaArgSerCysIleAspGlyAsnSerGlyThrSerIleGlnSerLeuArgProHisSerTyrValLysThrIleAlaIleLeuGlyAlaGlyHisTyrValTyrAlaAspGlnProGluGluPheAsnGlnLysValLysGluIleCysAspThrValAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525725" }, { "coordinates": [ { "allele": "G", "end": 221, "referenceAllele": "C", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "NR_158560.1:n.221C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS532128" }, { "@id": "http://reg.genome.network/allele/PA2828045531", "coordinates": [ { "allele": "G", "end": 153, "referenceAllele": "C", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "NM_001355186.2:c.98C>G" ], "proteinEffect": { "hgvs": "NP_001342115.1:p.Ser33Ter", "hgvsWellDefined": "NP_001342115.1:p.Ser33_Asp349delinsHisLeuLysGluAlaGluGluLysMetLeuLysCysValProCysThrTyrLysLysGluProValArgIleSerAsnGlyAsnLysIleTrpThrLeuLysPheSerHisAsnIleSerAsnLysThrProLeuValLeuLeuHisGlyPheGlyGlyGlyLeuGlyLeuTrpAlaLeuAsnPheGlyAspLeuCysThrAsnArgProValTyrAlaPheAspLeuLeuGlyPheGlyArgSerSerArgProArgPheAspSerAspAlaGluGluValGluAsnGlnPheValGluSerIleGluGluTrpArgCysAlaLeuGlyLeuAspLysMetIleLeuLeuGlyHisAsnLeuGlyGlyPheLeuAlaAlaAlaTyrSerLeuLysTyrProSerArgValAsnHisLeuIleLeuValGluProTrpGlyPheProGluArgProAspLeuAlaAspGlnAspArgProIleProValTrpIleArgAlaLeuGlyAlaAlaLeuThrProPheAsnProLeuAlaGlyLeuArgIleAlaGlyProPheGlyLeuSerLeuValGlnArgLeuArgProAspPheLysArgLysTyrSerSerMetPheGluAspAspThrValThrGluTyrIleTyrHisCysAsnValGlnThrProSerGlyGluThrAlaPheLysAsnMetThrIleProTyrGlyTrpAlaLysArgProMetLeuGlnArgIleGlyLysMetHisProAspIleProValSerValIlePheGlyAlaArgSerCysIleAspGlyAsnSerGlyThrSerIleGlnSerLeuArgProHisSerTyrValLysThrIleAlaIleLeuGlyAlaGlyHisTyrValTyrAlaAspGlnProGluGluPheAsnGlnLysValLysGluIleCysAspThrValAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690423" }, { "@id": "http://reg.genome.network/allele/PA117423", "coordinates": [ { "allele": "G", "end": 153, "referenceAllele": "C", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN021396", "geneNCBI_id": 51099, "geneSymbol": "ABHD5", "hgvs": [ "NM_016006.6:c.98C>G" ], "proteinEffect": { "hgvs": "NP_057090.2:p.Ser33Ter", "hgvsWellDefined": "NP_057090.2:p.Ser33_Asp349delinsHisLeuLysGluAlaGluGluLysMetLeuLysCysValProCysThrTyrLysLysGluProValArgIleSerAsnGlyAsnLysIleTrpThrLeuLysPheSerHisAsnIleSerAsnLysThrProLeuValLeuLeuHisGlyPheGlyGlyGlyLeuGlyLeuTrpAlaLeuAsnPheGlyAspLeuCysThrAsnArgProValTyrAlaPheAspLeuLeuGlyPheGlyArgSerSerArgProArgPheAspSerAspAlaGluGluValGluAsnGlnPheValGluSerIleGluGluTrpArgCysAlaLeuGlyLeuAspLysMetIleLeuLeuGlyHisAsnLeuGlyGlyPheLeuAlaAlaAlaTyrSerLeuLysTyrProSerArgValAsnHisLeuIleLeuValGluProTrpGlyPheProGluArgProAspLeuAlaAspGlnAspArgProIleProValTrpIleArgAlaLeuGlyAlaAlaLeuThrProPheAsnProLeuAlaGlyLeuArgIleAlaGlyProPheGlyLeuSerLeuValGlnArgLeuArgProAspPheLysArgLysTyrSerSerMetPheGluAspAspThrValThrGluTyrIleTyrHisCysAsnValGlnThrProSerGlyGluThrAlaPheLysAsnMetThrIleProTyrGlyTrpAlaLysArgProMetLeuGlnArgIleGlyLysMetHisProAspIleProValSerValIlePheGlyAlaArgSerCysIleAspGlyAsnSerGlyThrSerIleGlnSerLeuArgProHisSerTyrValLysThrIleAlaIleLeuGlyAlaGlyHisTyrValTyrAlaAspGlnProGluGluPheAsnGlnLysValLysGluIleCysAspThrValAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697645", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644371.2:c.98C>G" }, "RefSeq": { "hgvs": "NM_016006.6:c.98C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495778.1:p.Ser33Ter" }, "RefSeq": { "hgvs": "NP_057090.2:p.Ser33Ter" } } } } ], "type": "nucleotide" }