{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA252021", "communityStandardTitle": [ "NM_001174150.2(ARL13B):c.246G>A (p.Trp82Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17031[alleleid]", "alleleId": 17031, "preferredName": "NM_001174150.2(ARL13B):c.246G>A (p.Trp82Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1992", "RCV": [ "RCV000002069" ], "variationId": 1992 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.93722618G>A?assembly=hg19", "id": "chr3:g.93722618G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.94003774G>A?assembly=hg38", "id": "chr3:g.94003774G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121912607", "rs": 121912607 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 94003774, "referenceAllele": "G", "start": 94003773 } ], "hgvs": [ "NC_000003.12:g.94003774G>A", "CM000665.2:g.94003774G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 93722618, "referenceAllele": "G", "start": 93722617 } ], "hgvs": [ "NC_000003.11:g.93722618G>A", "CM000665.1:g.93722618G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 95205308, "referenceAllele": "G", "start": 95205307 } ], "hgvs": [ "NC_000003.10:g.95205308G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 28636, "referenceAllele": "G", "start": 28635 } ], "hgvs": [ "NG_017076.1:g.28636G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003412" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "G", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000394222.8:c.246G>A" ], "proteinEffect": { "hgvs": "ENSP00000377769.3:p.Trp82Ter", "hgvsWellDefined": "ENSP00000377769.3:p.Trp82_Ser428delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753228", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394222.8:c.246G>A" }, "RefSeq": { "hgvs": "NM_001174150.2:c.246G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377769.3:p.Trp82Ter" }, "RefSeq": { "hgvs": "NP_001167621.1:p.Trp82Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 478, "referenceAllele": "G", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000475206.3:n.478G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757141" }, { "coordinates": [ { "allele": "A", "end": 339, "endIntronDirection": "+", "endIntronOffset": 23292, "referenceAllele": "G", "start": 339, "startIntronDirection": "+", "startIntronOffset": 23291 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000486562.2:c.59+23292G>A" ], "proteinEffect": { "hgvs": "ENSP00000505366.1:n.59+23292G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS757540" }, { "coordinates": [ { "allele": "A", "end": 528, "referenceAllele": "G", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000492165.3:n.528G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757699" }, { "coordinates": [ { "allele": "A", "end": 789, "referenceAllele": "G", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000679404.1:c.171G>A" ], "proteinEffect": { "hgvs": "ENSP00000505252.1:p.Trp57Ter", "hgvsWellDefined": "ENSP00000505252.1:p.Trp57_Ser403delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779036" }, { "coordinates": [ { "allele": "A", "end": 341, "referenceAllele": "G", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000679587.1:c.246G>A" ], "proteinEffect": { "hgvs": "ENSP00000505396.1:p.Trp82Ter", "hgvsWellDefined": "ENSP00000505396.1:p.Trp82_Ser405delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779215" }, { "coordinates": [ { "allele": "A", "end": 655, "referenceAllele": "G", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000679601.1:c.*98G>A" ], "proteinEffect": { "hgvs": "ENSP00000506200.1:n.*98G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS779229" }, { "coordinates": [ { "allele": "A", "end": 205, "endIntronDirection": "+", "endIntronOffset": 15063, "referenceAllele": "G", "start": 205, "startIntronDirection": "+", "startIntronOffset": 15062 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000679607.1:c.-458+15063G>A" ], "proteinEffect": { "hgvs": "ENSP00000505148.1:n.-458+15063G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS779235" }, { "coordinates": [ { "allele": "A", "end": 532, "endIntronDirection": "+", "endIntronOffset": 7090, "referenceAllele": "G", "start": 532, "startIntronDirection": "+", "startIntronOffset": 7089 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000679654.1:c.252+7090G>A" ], "proteinEffect": { "hgvs": "ENSP00000505178.1:n.252+7090G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS779281" }, { "coordinates": [ { "allele": "A", "end": 313, "endIntronDirection": "+", "endIntronOffset": 23292, "referenceAllele": "G", "start": 313, "startIntronDirection": "+", "startIntronOffset": 23291 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000679657.1:c.-33+23292G>A" ], "proteinEffect": { "hgvs": "ENSP00000505494.1:n.-33+23292G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS779284" }, { "coordinates": [ { "allele": "A", "end": 591, "endIntronDirection": "+", "endIntronOffset": 14658, "referenceAllele": "G", "start": 591, "startIntronDirection": "+", "startIntronOffset": 14657 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000679666.1:c.8+14658G>A" ], "proteinEffect": { "hgvs": "ENSP00000506469.1:n.8+14658G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS779293" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000679739.1:c.-64G>A" ], "proteinEffect": { "hgvs": "ENSP00000506703.1:n.-64G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS779364" }, { "coordinates": [ { "allele": "A", "end": 808, "referenceAllele": "G", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000679872.1:c.195G>A" ], "proteinEffect": { "hgvs": "ENSP00000505607.1:p.Trp65Ter", "hgvsWellDefined": "ENSP00000505607.1:p.Trp65_Ser411delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779494" }, { "coordinates": [ { "allele": "A", "end": 665, "referenceAllele": "G", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000680414.1:c.*98G>A" ], "proteinEffect": { "hgvs": "ENSP00000506063.1:n.*98G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS780031" }, { "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "G", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000680430.1:c.495G>A" ], "proteinEffect": { "hgvs": "ENSP00000504943.1:n.495G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS780047" }, { "coordinates": [ { "allele": "A", "end": 410, "endIntronDirection": "+", "endIntronOffset": 7830, "referenceAllele": "G", "start": 410, "startIntronDirection": "+", "startIntronOffset": 7829 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000680994.1:n.410+7830G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS780608" }, { "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "G", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000681013.1:c.246G>A" ], "proteinEffect": { "hgvs": "ENSP00000506243.1:p.Trp82Ter", "hgvsWellDefined": "ENSP00000506243.1:p.Trp82_Pro161delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValAsnHisValGlnGlnSerArgGlyMetGluArgLysLeuThrSerProLeuLysLysAlaPheIleGlyCysTyrMetLeuLeuGlnGluThrLeuMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780626" }, { "coordinates": [ { "allele": "A", "end": 341, "endIntronDirection": "+", "endIntronOffset": 23292, "referenceAllele": "G", "start": 341, "startIntronDirection": "+", "startIntronOffset": 23291 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000681247.1:c.59+23292G>A" ], "proteinEffect": { "hgvs": "ENSP00000505168.1:n.59+23292G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS780858" }, { "coordinates": [ { "allele": "A", "end": 528, "referenceAllele": "G", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000681380.1:c.246G>A" ], "proteinEffect": { "hgvs": "ENSP00000505402.1:p.Trp82Ter", "hgvsWellDefined": "ENSP00000505402.1:p.Trp82_Ser457delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluSerCysGlyLeuArgProLeuLeuLeuArgArgProLeuLeuLeuSerGlnTyrSerIleIleLysSerLysLeuThrPheGlyAspGlyLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780988" }, { "coordinates": [ { "allele": "A", "end": 545, "referenceAllele": "G", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000681655.1:c.171G>A" ], "proteinEffect": { "hgvs": "ENSP00000505036.1:p.Trp57Ter", "hgvsWellDefined": "ENSP00000505036.1:p.Trp57_Ser403delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781261" }, { "coordinates": [ { "allele": "A", "end": 341, "endIntronDirection": "+", "endIntronOffset": 23292, "referenceAllele": "G", "start": 341, "startIntronDirection": "+", "startIntronOffset": 23291 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000303097.11:c.59+23292G>A" ], "proteinEffect": { "hgvs": "ENSP00000306225.7:n.59+23292G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS255275" }, { "coordinates": [ { "allele": "A", "end": 602, "referenceAllele": "G", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000335438.7:c.*98G>A" ], "proteinEffect": { "hgvs": "ENSP00000335400.3:n.*98G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS260119" }, { "coordinates": [ { "allele": "A", "end": 521, "referenceAllele": "G", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000394222.7:c.246G>A" ], "proteinEffect": { "hgvs": "ENSP00000377769.3:p.Trp82Ter", "hgvsWellDefined": "ENSP00000377769.3:p.Trp82_Ser428delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276055" }, { "coordinates": [ { "allele": "A", "end": 384, "endIntronDirection": "+", "endIntronOffset": 7830, "referenceAllele": "G", "start": 384, "startIntronDirection": "+", "startIntronOffset": 7829 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000460371.5:c.130+7830G>A" ], "proteinEffect": { "hgvs": "ENSP00000417263.1:n.130+7830G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS305121" }, { "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "G", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000471138.5:c.246G>A" ], "proteinEffect": { "hgvs": "ENSP00000420780.1:p.Trp82Ter", "hgvsWellDefined": "ENSP00000420780.1:p.Trp82_Ser428delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS313405" }, { "coordinates": [ { "allele": "A", "end": 537, "referenceAllele": "G", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000475206.2:n.537G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316537" }, { "coordinates": [ { "allele": "A", "end": 336, "endIntronDirection": "+", "endIntronOffset": 7830, "referenceAllele": "G", "start": 336, "startIntronDirection": "+", "startIntronOffset": 7829 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000486562.1:n.336+7830G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS325341" }, { "coordinates": [ { "allele": "A", "end": 311, "referenceAllele": "G", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000492165.2:n.311G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS329609" }, { "coordinates": [ { "allele": "A", "end": 460, "referenceAllele": "G", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "ENST00000535334.5:c.-64G>A" ], "proteinEffect": { "hgvs": "ENSP00000445145.1:n.-64G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS359668" }, { "@id": "http://reg.genome.network/allele/PA2826112162", "coordinates": [ { "allele": "A", "end": 531, "referenceAllele": "G", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "NM_001174150.1:c.246G>A" ], "proteinEffect": { "hgvs": "NP_001167621.1:p.Trp82Ter", "hgvsWellDefined": "NP_001167621.1:p.Trp82_Ser428delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015696" }, { "coordinates": [ { "allele": "A", "end": 460, "referenceAllele": "G", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "NM_001174151.1:c.-64G>A" ], "proteinEffect": { "hgvs": "NP_001167622.1:n.-64G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS015697" }, { "coordinates": [ { "allele": "A", "end": 344, "endIntronDirection": "+", "endIntronOffset": 23292, "referenceAllele": "G", "start": 344, "startIntronDirection": "+", "startIntronOffset": 23291 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "NM_144996.3:c.59+23292G>A" ], "proteinEffect": { "hgvs": "NP_659433.2:n.59+23292G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS041288" }, { "@id": "http://reg.genome.network/allele/PA252022", "coordinates": [ { "allele": "A", "end": 531, "referenceAllele": "G", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "NM_182896.2:c.246G>A" ], "proteinEffect": { "hgvs": "NP_878899.1:p.Trp82Ter", "hgvsWellDefined": "NP_878899.1:p.Trp82_Ser428delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044153" }, { "coordinates": [ { "allele": "A", "end": 415, "endIntronDirection": "+", "endIntronOffset": 7830, "referenceAllele": "G", "start": 415, "startIntronDirection": "+", "startIntronOffset": 7829 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "NR_033427.1:n.415+7830G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS049031" }, { "coordinates": [ { "allele": "A", "end": 658, "referenceAllele": "G", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "XM_006713531.2:c.201G>A" ], "proteinEffect": { "hgvs": "XP_006713594.1:p.Trp67Ter", "hgvsWellDefined": "XP_006713594.1:p.Trp67_Ser413delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070218" }, { "coordinates": [ { "allele": "A", "end": 673, "referenceAllele": "G", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "XM_006713532.2:c.201G>A" ], "proteinEffect": { "hgvs": "XP_006713595.1:p.Trp67Ter", "hgvsWellDefined": "XP_006713595.1:p.Trp67_Ser413delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070219" }, { "coordinates": [ { "allele": "A", "end": 591, "referenceAllele": "G", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "XM_011512532.1:c.210G>A" ], "proteinEffect": { "hgvs": "XP_011510834.1:p.Trp70Ter", "hgvsWellDefined": "XP_011510834.1:p.Trp70_Ser416delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079788" }, { "coordinates": [ { "allele": "A", "end": 631, "referenceAllele": "G", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "XM_011512533.1:c.210G>A" ], "proteinEffect": { "hgvs": "XP_011510835.1:p.Trp70Ter", "hgvsWellDefined": "XP_011510835.1:p.Trp70_Ser416delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079789" }, { "coordinates": [ { "allele": "A", "end": 698, "referenceAllele": "G", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "XM_011512534.1:c.201G>A" ], "proteinEffect": { "hgvs": "XP_011510836.1:p.Trp67Ter", "hgvsWellDefined": "XP_011510836.1:p.Trp67_Ser413delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079790" }, { "coordinates": [ { "allele": "A", "end": 576, "referenceAllele": "G", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "XM_011512535.1:c.171G>A" ], "proteinEffect": { "hgvs": "XP_011510837.1:p.Trp57Ter", "hgvsWellDefined": "XP_011510837.1:p.Trp57_Ser403delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079791" }, { "coordinates": [ { "allele": "A", "end": 136, "referenceAllele": "G", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "XM_011512536.1:c.-64G>A" ], "proteinEffect": { "hgvs": "XP_011510838.1:n.-64G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS079792" }, { "@id": "http://reg.genome.network/allele/PA2827105884", "coordinates": [ { "allele": "A", "end": 653, "referenceAllele": "G", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "NM_001321328.1:c.201G>A" ], "proteinEffect": { "hgvs": "NP_001308257.1:p.Trp67Ter", "hgvsWellDefined": "NP_001308257.1:p.Trp67_Ser413delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514212" }, { "coordinates": [ { "allele": "A", "end": 411, "endIntronDirection": "+", "endIntronOffset": 7830, "referenceAllele": "G", "start": 411, "startIntronDirection": "+", "startIntronOffset": 7829 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "NR_135621.1:n.411+7830G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS528378" }, { "coordinates": [ { "allele": "A", "end": 650, "referenceAllele": "G", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "XM_006713532.3:c.201G>A" ], "proteinEffect": { "hgvs": "XP_006713595.1:p.Trp67Ter", "hgvsWellDefined": "XP_006713595.1:p.Trp67_Ser413delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538519" }, { "coordinates": [ { "allele": "A", "end": 559, "referenceAllele": "G", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "XM_011512532.2:c.210G>A" ], "proteinEffect": { "hgvs": "XP_011510834.1:p.Trp70Ter", "hgvsWellDefined": "XP_011510834.1:p.Trp70_Ser416delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542555" }, { "coordinates": [ { "allele": "A", "end": 367, "referenceAllele": "G", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "XM_011512533.2:c.210G>A" ], "proteinEffect": { "hgvs": "XP_011510835.1:p.Trp70Ter", "hgvsWellDefined": "XP_011510835.1:p.Trp70_Ser416delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542556" }, { "coordinates": [ { "allele": "A", "end": 685, "referenceAllele": "G", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "XM_011512534.2:c.201G>A" ], "proteinEffect": { "hgvs": "XP_011510836.1:p.Trp67Ter", "hgvsWellDefined": "XP_011510836.1:p.Trp67_Ser413delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542557" }, { "coordinates": [ { "allele": "A", "end": 544, "referenceAllele": "G", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "XM_011512535.2:c.171G>A" ], "proteinEffect": { "hgvs": "XP_011510837.1:p.Trp57Ter", "hgvsWellDefined": "XP_011510837.1:p.Trp57_Ser403delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542558" }, { "coordinates": [ { "allele": "A", "end": 561, "referenceAllele": "G", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "XM_017005853.1:c.-64G>A" ], "proteinEffect": { "hgvs": "XP_016861342.1:n.-64G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561017" }, { "@id": "http://reg.genome.network/allele/PA2826112162", "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "G", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "NM_001174150.2:c.246G>A" ], "proteinEffect": { "hgvs": "NP_001167621.1:p.Trp82Ter", "hgvsWellDefined": "NP_001167621.1:p.Trp82_Ser428delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678870", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394222.8:c.246G>A" }, "RefSeq": { "hgvs": "NM_001174150.2:c.246G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377769.3:p.Trp82Ter" }, "RefSeq": { "hgvs": "NP_001167621.1:p.Trp82Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827105884", "coordinates": [ { "allele": "A", "end": 637, "referenceAllele": "G", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "NM_001321328.2:c.201G>A" ], "proteinEffect": { "hgvs": "NP_001308257.1:p.Trp67Ter", "hgvsWellDefined": "NP_001308257.1:p.Trp67_Ser413delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685302" }, { "coordinates": [ { "allele": "A", "end": 328, "endIntronDirection": "+", "endIntronOffset": 23292, "referenceAllele": "G", "start": 328, "startIntronDirection": "+", "startIntronOffset": 23291 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "NM_144996.4:c.59+23292G>A" ], "proteinEffect": { "hgvs": "NP_659433.2:n.59+23292G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS699962" }, { "@id": "http://reg.genome.network/allele/PA252022", "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "G", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "NM_182896.3:c.246G>A" ], "proteinEffect": { "hgvs": "NP_878899.1:p.Trp82Ter", "hgvsWellDefined": "NP_878899.1:p.Trp82_Ser428delinsLysAsnTyrTyrAlaGluSerTyrGlyValIlePheValValAspSerSerAspGluGluArgMetGluGluThrLysGluAlaMetSerGluMetLeuArgHisProArgIleSerGlyLysProIleLeuValLeuAlaAsnLysGlnAspLysGluGlyAlaLeuGlyGluAlaAspValIleGluCysLeuSerLeuGluLysLeuValAsnGluHisLysCysLeuCysGlnIleGluProCysSerAlaIleSerGlyTyrGlyLysLysIleAspLysSerIleLysLysGlyLeuTyrTrpLeuLeuHisValIleAlaArgAspPheAspAlaLeuAsnGluArgIleGlnLysGluThrThrGluGlnArgAlaLeuGluGluGlnGluLysGlnGluArgAlaGluArgValArgLysLeuArgGluGluArgLysGlnAsnGluGlnGluGlnAlaGluLeuAspGlyThrSerGlyLeuAlaGluLeuAspProGluProThrAsnProPheGlnProIleAlaSerValIleIleGluAsnGluGlyLysLeuGluArgGluLysLysAsnGlnLysMetGluLysAspSerAspGlyCysHisLeuLysHisLysMetGluHisGluGlnIleGluThrGlnGlyGlnValAsnHisAsnGlyGlnLysAsnAsnGluPheGlyLeuValGluAsnTyrLysGluAlaLeuThrGlnGlnLeuLysAsnGluAspGluThrAspArgProSerLeuGluSerAlaAsnGlyLysLysLysThrLysLysLeuArgMetLysArgAsnHisArgValGluProLeuAsnIleAspAspCysAlaProGluSerProThrProProProProProProProValGlyTrpGlyThrProLysValThrArgLeuProLysLeuGluProLeuGlyGluThrHisHisAsnAspPheTyrArgLysProLeuProProLeuAlaValProGlnArgProAsnSerAspAlaHisAspValIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701133" }, { "coordinates": [ { "allele": "A", "end": 399, "endIntronDirection": "+", "endIntronOffset": 7830, "referenceAllele": "G", "start": 399, "startIntronDirection": "+", "startIntronOffset": 7829 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "NR_033427.2:n.399+7830G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702130" }, { "coordinates": [ { "allele": "A", "end": 395, "endIntronDirection": "+", "endIntronOffset": 7830, "referenceAllele": "G", "start": 395, "startIntronDirection": "+", "startIntronOffset": 7829 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "NR_135621.2:n.395+7830G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS703707" }, { "coordinates": [ { "allele": "A", "end": 444, "referenceAllele": "G", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN025419", "geneNCBI_id": 200894, "geneSymbol": "ARL13B", "hgvs": [ "NM_001174151.2:c.-64G>A" ], "proteinEffect": { "hgvs": "NP_001167622.1:n.-64G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713512" } ], "type": "nucleotide" }