{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA409911008", "communityStandardTitle": [ "NM_001352514.2(HLCS):c.1604T>A (p.Leu535Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr21:g.38302567A>T?assembly=hg19", "id": "chr21:g.38302567A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr21:g.36930267A>T?assembly=hg38", "id": "chr21:g.36930267A>T" } ] }, "genomicAlleles": [ { "chromosome": "21", "coordinates": [ { "allele": "T", "end": 36930267, "referenceAllele": "A", "start": 36930266 } ], "hgvs": [ "NC_000021.9:g.36930267A>T", "CM000683.2:g.36930267A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000069" }, { "chromosome": "21", "coordinates": [ { "allele": "T", "end": 38302567, "referenceAllele": "A", "start": 38302566 } ], "hgvs": [ "NC_000021.8:g.38302567A>T", "CM000683.1:g.38302567A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000045" }, { "chromosome": "21", "coordinates": [ { "allele": "T", "end": 37224437, "referenceAllele": "A", "start": 37224436 } ], "hgvs": [ "NC_000021.7:g.37224437A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000021" }, { "coordinates": [ { "allele": "A", "end": 64970, "referenceAllele": "T", "start": 64969 } ], "hgvs": [ "NG_016193.1:g.64970T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002999" }, { "coordinates": [ { "allele": "A", "end": 65128, "referenceAllele": "T", "start": 65127 } ], "hgvs": [ "NG_016193.2:g.65128T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616215" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1635, "referenceAllele": "T", "start": 1634 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "ENST00000674895.3:c.1604T>A" ], "proteinEffect": { "hgvs": "ENSP00000502087.2:p.Leu535Ter", "hgvsWellDefined": "ENSP00000502087.2:p.Leu536_Arg873delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826898", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674895.3:c.1604T>A" }, "RefSeq": { "hgvs": "NM_001352514.2:c.1604T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502087.2:p.Leu535Ter" }, "RefSeq": { "hgvs": "NP_001339443.1:p.Leu535Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1635, "referenceAllele": "T", "start": 1634 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "ENST00000674895.2:c.1163T>A" ], "proteinEffect": { "hgvs": "ENSP00000502087.1:p.Leu388Ter", "hgvsWellDefined": "ENSP00000502087.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774785" }, { "coordinates": [ { "allele": "A", "end": 1486, "referenceAllele": "T", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "ENST00000675057.1:c.1163T>A" ], "proteinEffect": { "hgvs": "ENSP00000501832.1:p.Leu388Ter", "hgvsWellDefined": "ENSP00000501832.1:p.Leu389_Phe604delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleValArgLeuArgTrpPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774931" }, { "coordinates": [ { "allele": "A", "end": 1558, "referenceAllele": "T", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "ENST00000675307.1:c.1163T>A" ], "proteinEffect": { "hgvs": "ENSP00000501750.1:p.Leu388Ter", "hgvsWellDefined": "ENSP00000501750.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775144" }, { "coordinates": [ { "allele": "A", "end": 1634, "referenceAllele": "T", "start": 1633 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "ENST00000336648.8:c.1163T>A" ], "proteinEffect": { "hgvs": "ENSP00000338387.3:p.Leu388Ter", "hgvsWellDefined": "ENSP00000338387.3:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260338" }, { "coordinates": [ { "allele": "A", "end": 2394, "referenceAllele": "T", "start": 2393 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "ENST00000399120.5:c.1163T>A" ], "proteinEffect": { "hgvs": "ENSP00000382071.1:p.Leu388Ter", "hgvsWellDefined": "ENSP00000382071.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278551" }, { "coordinates": [ { "allele": "A", "end": 151, "referenceAllele": "T", "start": 150 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "ENST00000482273.1:n.151T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS322012" }, { "coordinates": [ { "allele": "A", "end": 1736, "referenceAllele": "T", "start": 1735 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "ENST00000612277.4:c.1163T>A" ], "proteinEffect": { "hgvs": "ENSP00000479939.1:p.Leu388Ter", "hgvsWellDefined": "ENSP00000479939.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401237" }, { "coordinates": [ { "allele": "A", "end": 1643, "referenceAllele": "T", "start": 1642 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_000411.6:c.1163T>A" ], "proteinEffect": { "hgvs": "NP_000402.3:p.Leu388Ter", "hgvsWellDefined": "NP_000402.3:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006473" }, { "coordinates": [ { "allele": "A", "end": 2577, "referenceAllele": "T", "start": 2576 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001242784.1:c.1163T>A" ], "proteinEffect": { "hgvs": "NP_001229713.1:p.Leu388Ter", "hgvsWellDefined": "NP_001229713.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018238" }, { "coordinates": [ { "allele": "A", "end": 1736, "referenceAllele": "T", "start": 1735 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001242785.1:c.1163T>A" ], "proteinEffect": { "hgvs": "NP_001229714.1:p.Leu388Ter", "hgvsWellDefined": "NP_001229714.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018239" }, { "coordinates": [ { "allele": "A", "end": 1605, "referenceAllele": "T", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_005260953.2:c.1604T>A" ], "proteinEffect": { "hgvs": "XP_005261010.1:p.Leu535Ter", "hgvsWellDefined": "XP_005261010.1:p.Leu536_Arg873delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062989" }, { "coordinates": [ { "allele": "A", "end": 1605, "referenceAllele": "T", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_005260954.1:c.1604T>A" ], "proteinEffect": { "hgvs": "XP_005261011.1:p.Leu535Ter", "hgvsWellDefined": "XP_005261011.1:p.Leu536_Phe751delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleValArgLeuArgTrpPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062990" }, { "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "T", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_005260955.2:c.1163T>A" ], "proteinEffect": { "hgvs": "XP_005261012.1:p.Leu388Ter", "hgvsWellDefined": "XP_005261012.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062991" }, { "coordinates": [ { "allele": "A", "end": 1652, "referenceAllele": "T", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_005260956.2:c.1163T>A" ], "proteinEffect": { "hgvs": "XP_005261013.1:p.Leu388Ter", "hgvsWellDefined": "XP_005261013.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062992" }, { "coordinates": [ { "allele": "A", "end": 1590, "referenceAllele": "T", "start": 1589 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_006723994.1:c.1163T>A" ], "proteinEffect": { "hgvs": "XP_006724057.1:p.Leu388Ter", "hgvsWellDefined": "XP_006724057.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075310" }, { "coordinates": [ { "allele": "A", "end": 1768, "referenceAllele": "T", "start": 1767 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_006723995.1:c.1163T>A" ], "proteinEffect": { "hgvs": "XP_006724058.1:p.Leu388Ter", "hgvsWellDefined": "XP_006724058.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075311" }, { "coordinates": [ { "allele": "A", "end": 1623, "referenceAllele": "T", "start": 1622 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_011529538.1:c.1163T>A" ], "proteinEffect": { "hgvs": "XP_011527840.1:p.Leu388Ter", "hgvsWellDefined": "XP_011527840.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096607" }, { "coordinates": [ { "allele": "A", "end": 1620, "referenceAllele": "T", "start": 1619 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_011529539.1:c.1163T>A" ], "proteinEffect": { "hgvs": "XP_011527841.1:p.Leu388Ter", "hgvsWellDefined": "XP_011527841.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096608" }, { "coordinates": [ { "allele": "A", "end": 1605, "referenceAllele": "T", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_011529540.1:c.1604T>A" ], "proteinEffect": { "hgvs": "XP_011527842.1:p.Leu535Ter", "hgvsWellDefined": "XP_011527842.1:p.Leu536_Cys636delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyAlaGlyCysThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096609" }, { "coordinates": [ { "allele": "A", "end": 1455, "referenceAllele": "T", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_011529541.1:c.1163T>A" ], "proteinEffect": { "hgvs": "XP_011527843.1:p.Leu388Ter", "hgvsWellDefined": "XP_011527843.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096610" }, { "coordinates": [ { "allele": "A", "end": 1605, "referenceAllele": "T", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_011529542.1:c.1604T>A" ], "proteinEffect": { "hgvs": "XP_011527844.1:p.Leu535Ter", "hgvsWellDefined": "XP_011527844.1:p.Leu536_Gly550delinsSerAlaAlaGluAlaLeuLeuAsnThrGlyValArgValGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096611" }, { "coordinates": [ { "allele": "A", "end": 1792, "referenceAllele": "T", "start": 1791 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_000411.7:c.1163T>A" ], "proteinEffect": { "hgvs": "NP_000402.3:p.Leu388Ter", "hgvsWellDefined": "NP_000402.3:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510791" }, { "coordinates": [ { "allele": "A", "end": 2611, "referenceAllele": "T", "start": 2610 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001242784.2:c.1163T>A" ], "proteinEffect": { "hgvs": "NP_001229713.1:p.Leu388Ter", "hgvsWellDefined": "NP_001229713.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511912" }, { "coordinates": [ { "allele": "A", "end": 1766, "referenceAllele": "T", "start": 1765 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001242785.2:c.1163T>A" ], "proteinEffect": { "hgvs": "NP_001229714.1:p.Leu388Ter", "hgvsWellDefined": "NP_001229714.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511913" }, { "coordinates": [ { "allele": "A", "end": 1656, "referenceAllele": "T", "start": 1655 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001352514.1:c.1604T>A" ], "proteinEffect": { "hgvs": "NP_001339443.1:p.Leu535Ter", "hgvsWellDefined": "NP_001339443.1:p.Leu536_Arg873delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520953" }, { "coordinates": [ { "allele": "A", "end": 1646, "referenceAllele": "T", "start": 1645 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001352515.1:c.1163T>A" ], "proteinEffect": { "hgvs": "NP_001339444.1:p.Leu388Ter", "hgvsWellDefined": "NP_001339444.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520954" }, { "coordinates": [ { "allele": "A", "end": 1666, "referenceAllele": "T", "start": 1665 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001352516.1:c.1163T>A" ], "proteinEffect": { "hgvs": "NP_001339445.1:p.Leu388Ter", "hgvsWellDefined": "NP_001339445.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520955" }, { "coordinates": [ { "allele": "A", "end": 1620, "referenceAllele": "T", "start": 1619 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001352517.1:c.1163T>A" ], "proteinEffect": { "hgvs": "NP_001339446.1:p.Leu388Ter", "hgvsWellDefined": "NP_001339446.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520956" }, { "coordinates": [ { "allele": "A", "end": 1479, "referenceAllele": "T", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001352518.1:c.1163T>A" ], "proteinEffect": { "hgvs": "NP_001339447.1:p.Leu388Ter", "hgvsWellDefined": "NP_001339447.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520957" }, { "coordinates": [ { "allele": "A", "end": 1646, "referenceAllele": "T", "start": 1645 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NR_148020.1:n.1646T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530994" }, { "coordinates": [ { "allele": "A", "end": 1620, "referenceAllele": "T", "start": 1619 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NR_148021.1:n.1620T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530995" }, { "coordinates": [ { "allele": "A", "end": 1629, "referenceAllele": "T", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_011529539.3:c.1163T>A" ], "proteinEffect": { "hgvs": "XP_011527841.1:p.Leu388Ter", "hgvsWellDefined": "XP_011527841.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549542" }, { "coordinates": [ { "allele": "A", "end": 1605, "referenceAllele": "T", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_011529540.2:c.1604T>A" ], "proteinEffect": { "hgvs": "XP_011527842.1:p.Leu535Ter", "hgvsWellDefined": "XP_011527842.1:p.Leu536_Cys636delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyAlaGlyCysThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549543" }, { "coordinates": [ { "allele": "A", "end": 1426, "referenceAllele": "T", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_017028330.1:c.1163T>A" ], "proteinEffect": { "hgvs": "XP_016883819.1:p.Leu388Ter", "hgvsWellDefined": "XP_016883819.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578098" }, { "coordinates": [ { "allele": "A", "end": 1344, "referenceAllele": "T", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_024452065.1:c.992T>A" ], "proteinEffect": { "hgvs": "XP_024307833.1:p.Leu331Ter", "hgvsWellDefined": "XP_024307833.1:p.Leu332_Arg669delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585569" }, { "coordinates": [ { "allele": "A", "end": 1409, "referenceAllele": "T", "start": 1408 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XM_024452066.1:c.992T>A" ], "proteinEffect": { "hgvs": "XP_024307834.1:p.Leu331Ter", "hgvsWellDefined": "XP_024307834.1:p.Leu332_Arg669delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585570" }, { "coordinates": [ { "allele": "A", "end": 1605, "referenceAllele": "T", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XR_001754835.1:n.1605T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600833" }, { "coordinates": [ { "allele": "A", "end": 1605, "referenceAllele": "T", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XR_001754836.1:n.1605T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600834" }, { "coordinates": [ { "allele": "A", "end": 1605, "referenceAllele": "T", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XR_001754837.2:n.1605T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600835" }, { "coordinates": [ { "allele": "A", "end": 1605, "referenceAllele": "T", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "XR_001754840.1:n.1605T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600836" }, { "coordinates": [ { "allele": "A", "end": 1609, "referenceAllele": "T", "start": 1608 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_000411.8:c.1163T>A" ], "proteinEffect": { "hgvs": "NP_000402.3:p.Leu388Ter", "hgvsWellDefined": "NP_000402.3:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674833" }, { "coordinates": [ { "allele": "A", "end": 2590, "referenceAllele": "T", "start": 2589 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001242784.3:c.1163T>A" ], "proteinEffect": { "hgvs": "NP_001229713.1:p.Leu388Ter", "hgvsWellDefined": "NP_001229713.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680119" }, { "coordinates": [ { "allele": "A", "end": 1635, "referenceAllele": "T", "start": 1634 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001352514.2:c.1604T>A" ], "proteinEffect": { "hgvs": "NP_001339443.1:p.Leu535Ter", "hgvsWellDefined": "NP_001339443.1:p.Leu536_Arg873delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689292", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674895.3:c.1604T>A" }, "RefSeq": { "hgvs": "NM_001352514.2:c.1604T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502087.2:p.Leu535Ter" }, "RefSeq": { "hgvs": "NP_001339443.1:p.Leu535Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1463, "referenceAllele": "T", "start": 1462 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001352515.2:c.1163T>A" ], "proteinEffect": { "hgvs": "NP_001339444.1:p.Leu388Ter", "hgvsWellDefined": "NP_001339444.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689293" }, { "coordinates": [ { "allele": "A", "end": 1666, "referenceAllele": "T", "start": 1665 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001352516.2:c.1163T>A" ], "proteinEffect": { "hgvs": "NP_001339445.1:p.Leu388Ter", "hgvsWellDefined": "NP_001339445.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689294" }, { "coordinates": [ { "allele": "A", "end": 1463, "referenceAllele": "T", "start": 1462 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NR_148020.2:n.1463T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704672" }, { "coordinates": [ { "allele": "A", "end": 1479, "referenceAllele": "T", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN004976", "geneNCBI_id": 3141, "geneSymbol": "HLCS", "hgvs": [ "NM_001352518.2:c.1163T>A" ], "proteinEffect": { "hgvs": "NP_001339447.1:p.Leu388Ter", "hgvsWellDefined": "NP_001339447.1:p.Leu389_Arg726delinsSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720071" } ], "type": "nucleotide" }