{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367318510", "communityStandardTitle": [ "NM_000168.6(GLI3):c.3324C>A (p.Tyr1108Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=522929[alleleid]", "alleleId": 522929, "preferredName": "NM_000168.6(GLI3):c.3324C>A (p.Tyr1108Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/528800", "RCV": [ "RCV000634030" ], "variationId": 528800 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.42005347G>T?assembly=hg19", "id": "chr7:g.42005347G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.41965749G>T?assembly=hg38", "id": "chr7:g.41965749G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/116840766", "rs": 116840766 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 41965749, "referenceAllele": "G", "start": 41965748 } ], "hgvs": [ "NC_000007.14:g.41965749G>T", "CM000669.2:g.41965749G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 42005347, "referenceAllele": "G", "start": 42005346 } ], "hgvs": [ "NC_000007.13:g.42005347G>T", "CM000669.1:g.42005347G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 41971872, "referenceAllele": "G", "start": 41971871 } ], "hgvs": [ "NC_000007.12:g.41971872G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 276272, "referenceAllele": "C", "start": 276271 } ], "hgvs": [ "NG_008434.1:g.276272C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001097" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3605, "referenceAllele": "C", "start": 3604 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "ENST00000395925.8:c.3324C>A" ], "proteinEffect": { "hgvs": "ENSP00000379258.3:p.Tyr1108Ter", "hgvsWellDefined": "ENSP00000379258.3:p.Tyr1108_Gln1580delinsGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753460", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395925.8:c.3324C>A" }, "RefSeq": { "hgvs": "NM_000168.6:c.3324C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379258.3:p.Tyr1108Ter" }, "RefSeq": { "hgvs": "NP_000159.3:p.Tyr1108Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3281, "referenceAllele": "C", "start": 3280 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "ENST00000677288.1:c.3150C>A" ], "proteinEffect": { "hgvs": "ENSP00000503986.1:p.Tyr1050Ter", "hgvsWellDefined": "ENSP00000503986.1:p.Tyr1050_Gln1522delinsGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776951" }, { "coordinates": [ { "allele": "A", "end": 3423, "referenceAllele": "C", "start": 3422 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "ENST00000677605.1:c.3324C>A" ], "proteinEffect": { "hgvs": "ENSP00000503743.1:p.Tyr1108Ter", "hgvsWellDefined": "ENSP00000503743.1:p.Tyr1108_Gln1580delinsGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777263" }, { "coordinates": [ { "allele": "A", "end": 3437, "referenceAllele": "C", "start": 3436 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "ENST00000678429.1:c.3324C>A" ], "proteinEffect": { "hgvs": "ENSP00000502957.1:p.Tyr1108Ter", "hgvsWellDefined": "ENSP00000502957.1:p.Tyr1108_Gln1580delinsGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778075" }, { "coordinates": [ { "allele": "A", "end": 3409, "referenceAllele": "C", "start": 3408 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "ENST00000395925.7:c.3324C>A" ], "proteinEffect": { "hgvs": "ENSP00000379258.3:p.Tyr1108Ter", "hgvsWellDefined": "ENSP00000379258.3:p.Tyr1108_Gln1580delinsGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276992" }, { "coordinates": [ { "allele": "A", "end": 3301, "referenceAllele": "C", "start": 3300 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "ENST00000479210.1:n.3301C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS319645" }, { "@id": "http://reg.genome.network/allele/PA342941", "coordinates": [ { "allele": "A", "end": 3415, "referenceAllele": "C", "start": 3414 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "NM_000168.5:c.3324C>A" ], "proteinEffect": { "hgvs": "NP_000159.3:p.Tyr1108Ter", "hgvsWellDefined": "NP_000159.3:p.Tyr1108_Gln1580delinsGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006230" }, { "coordinates": [ { "allele": "A", "end": 3453, "referenceAllele": "C", "start": 3452 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "XM_005249703.1:c.3324C>A" ], "proteinEffect": { "hgvs": "XP_005249760.1:p.Tyr1108Ter", "hgvsWellDefined": "XP_005249760.1:p.Tyr1108_Gln1580delinsGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058919" }, { "coordinates": [ { "allele": "A", "end": 3642, "referenceAllele": "C", "start": 3641 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "XM_005249704.2:c.3324C>A" ], "proteinEffect": { "hgvs": "XP_005249761.1:p.Tyr1108Ter", "hgvsWellDefined": "XP_005249761.1:p.Tyr1108_Gln1580delinsGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058920" }, { "coordinates": [ { "allele": "A", "end": 3432, "referenceAllele": "C", "start": 3431 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "XM_011515272.1:c.3324C>A" ], "proteinEffect": { "hgvs": "XP_011513574.1:p.Tyr1108Ter", "hgvsWellDefined": "XP_011513574.1:p.Tyr1108_Gln1580delinsGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082492" }, { "coordinates": [ { "allele": "A", "end": 3485, "referenceAllele": "C", "start": 3484 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "XM_011515273.1:c.3324C>A" ], "proteinEffect": { "hgvs": "XP_011513575.1:p.Tyr1108Ter", "hgvsWellDefined": "XP_011513575.1:p.Tyr1108_Gln1580delinsGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082493" }, { "coordinates": [ { "allele": "A", "end": 3301, "referenceAllele": "C", "start": 3300 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "XM_011515274.1:c.3147C>A" ], "proteinEffect": { "hgvs": "XP_011513576.1:p.Tyr1049Ter", "hgvsWellDefined": "XP_011513576.1:p.Tyr1049_Gln1521delinsGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082494" }, { "coordinates": [ { "allele": "A", "end": 6039, "referenceAllele": "C", "start": 6038 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "XM_011515274.2:c.3147C>A" ], "proteinEffect": { "hgvs": "XP_011513576.1:p.Tyr1049Ter", "hgvsWellDefined": "XP_011513576.1:p.Tyr1049_Gln1521delinsGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543684" }, { "coordinates": [ { "allele": "A", "end": 6072, "referenceAllele": "C", "start": 6071 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "XM_017011997.1:c.3321C>A" ], "proteinEffect": { "hgvs": "XP_016867486.1:p.Tyr1107Ter", "hgvsWellDefined": "XP_016867486.1:p.Tyr1107_Gln1579delinsGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565710" }, { "@id": "http://reg.genome.network/allele/PA342941", "coordinates": [ { "allele": "A", "end": 3605, "referenceAllele": "C", "start": 3604 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "NM_000168.6:c.3324C>A" ], "proteinEffect": { "hgvs": "NP_000159.3:p.Tyr1108Ter", "hgvsWellDefined": "NP_000159.3:p.Tyr1108_Gln1580delinsGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662338", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395925.8:c.3324C>A" }, "RefSeq": { "hgvs": "NM_000168.6:c.3324C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379258.3:p.Tyr1108Ter" }, "RefSeq": { "hgvs": "NP_000159.3:p.Tyr1108Ter" } } } } ], "type": "nucleotide" }