{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA220370", "communityStandardTitle": [ "NM_000137.4(FAH):c.456G>A (p.Trp152Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98354[alleleid]", "alleleId": 98354, "preferredName": "NM_000137.4(FAH):c.456G>A (p.Trp152Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92445", "RCV": [ "RCV000179256", "RCV000627249" ], "variationId": 92445 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-80460394-G-A", "id": "15-80460394-G-A", "variant": "15:80460394 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.80460394G>A?assembly=hg19", "id": "chr15:g.80460394G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.80168052G>A?assembly=hg38", "id": "chr15:g.80168052G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/370686447", "rs": 370686447 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-80460394-G-A?dataset=gnomad_r2_1", "id": "15-80460394-G-A", "variant": "15:80460394 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-80168052-G-A?dataset=gnomad_r4", "id": "15-80168052-G-A", "variant": "15:80168052 G / A" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 80168052, "referenceAllele": "G", "start": 80168051 } ], "hgvs": [ "NC_000015.10:g.80168052G>A", "CM000677.2:g.80168052G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 80460394, "referenceAllele": "G", "start": 80460393 } ], "hgvs": [ "NC_000015.9:g.80460394G>A", "CM000677.1:g.80460394G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 78247449, "referenceAllele": "G", "start": 78247448 } ], "hgvs": [ "NC_000015.8:g.78247449G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 20054, "referenceAllele": "G", "start": 20053 } ], "hgvs": [ "NG_012833.1:g.20054G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002566" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 531, "referenceAllele": "G", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN003579", "geneNCBI_id": 2184, "geneSymbol": "FAH", "hgvs": [ "ENST00000682012.1:n.531G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827010" }, { "coordinates": [ { "allele": "A", "end": 501, "referenceAllele": "G", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN003579", "geneNCBI_id": 2184, "geneSymbol": "FAH", "hgvs": [ "ENST00000684569.1:n.501G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829522" }, { "coordinates": [ { "allele": "A", "end": 512, "referenceAllele": "G", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN003579", "geneNCBI_id": 2184, "geneSymbol": "FAH", "hgvs": [ "ENST00000561421.6:c.456G>A" ], "proteinEffect": { "hgvs": "ENSP00000453347.2:p.Trp152Ter", "hgvsWellDefined": "ENSP00000453347.2:p.Trp152_Ser419delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760323", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000561421.6:c.456G>A" }, "RefSeq": { "hgvs": "NM_000137.4:c.456G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000453347.2:p.Trp152Ter" }, "RefSeq": { "hgvs": "NP_000128.1:p.Trp152Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2083, "referenceAllele": "G", "start": 2082 } ], "gene": "http://reg.genome.network/gene/GN003579", "geneNCBI_id": 2184, "geneSymbol": "FAH", "hgvs": [ "ENST00000646551.1:n.2083G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768934" }, { "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "G", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN003579", "geneNCBI_id": 2184, "geneSymbol": "FAH", "hgvs": [ "ENST00000261755.9:c.456G>A" ], "proteinEffect": { "hgvs": "ENSP00000261755.5:p.Trp152Ter", "hgvsWellDefined": "ENSP00000261755.5:p.Trp152_Ser419delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250837" }, { "coordinates": [ { "allele": "A", "end": 611, "referenceAllele": "G", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN003579", "geneNCBI_id": 2184, "geneSymbol": "FAH", "hgvs": [ "ENST00000407106.5:c.456G>A" ], "proteinEffect": { "hgvs": "ENSP00000385080.1:p.Trp152Ter", "hgvsWellDefined": "ENSP00000385080.1:p.Trp152_Ser419delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280838" }, { "coordinates": [ { "allele": "A", "end": 2484, "referenceAllele": "G", "start": 2483 } ], "gene": "http://reg.genome.network/gene/GN003579", "geneNCBI_id": 2184, "geneSymbol": "FAH", "hgvs": [ "ENST00000539156.5:c.246G>A" ], "proteinEffect": { "hgvs": "ENSP00000454271.1:p.Trp82Ter", "hgvsWellDefined": "ENSP00000454271.1:p.Trp82_Ser349delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361702" }, { "coordinates": [ { "allele": "A", "end": 541, "referenceAllele": "G", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN003579", "geneNCBI_id": 2184, "geneSymbol": "FAH", "hgvs": [ "ENST00000558022.5:c.456G>A" ], "proteinEffect": { "hgvs": "ENSP00000453152.1:p.Trp152Ter", "hgvsWellDefined": "ENSP00000453152.1:p.Trp152_Gly161del" }, "referenceSequence": "http://reg.genome.network/refseq/RS373494" }, { "coordinates": [ { "allele": "A", "end": 2, "referenceAllele": "G", "start": 1 } ], "gene": "http://reg.genome.network/gene/GN003579", "geneNCBI_id": 2184, "geneSymbol": "FAH", "hgvs": [ "ENST00000558514.1:n.2G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS373857" }, { "coordinates": [ { "allele": "A", "end": 384, "referenceAllele": "G", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN003579", "geneNCBI_id": 2184, "geneSymbol": "FAH", "hgvs": [ "ENST00000558627.1:n.384G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS373947" }, { "coordinates": [ { "allele": "A", "end": 614, "referenceAllele": "G", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN003579", "geneNCBI_id": 2184, "geneSymbol": "FAH", "hgvs": [ "ENST00000561421.5:c.456G>A" ], "proteinEffect": { "hgvs": "ENSP00000453347.1:p.Trp152Ter", "hgvsWellDefined": "ENSP00000453347.1:p.Trp152_Ser419delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS376096" }, { "@id": "http://reg.genome.network/allele/PA220371", "coordinates": [ { "allele": "A", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN003579", "geneNCBI_id": 2184, "geneSymbol": "FAH", "hgvs": [ "NM_000137.2:c.456G>A" ], "proteinEffect": { "hgvs": "NP_000128.1:p.Trp152Ter", "hgvsWellDefined": "NP_000128.1:p.Trp152_Ser419delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006199" }, { "coordinates": [ { "allele": "A", "end": 568, "referenceAllele": "G", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN003579", "geneNCBI_id": 2184, "geneSymbol": "FAH", "hgvs": [ "XM_024449872.1:c.456G>A" ], "proteinEffect": { "hgvs": "XP_024305640.1:p.Trp152Ter", "hgvsWellDefined": "XP_024305640.1:p.Trp152_Ser419delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583414" }, { "@id": "http://reg.genome.network/allele/PA220371", "coordinates": [ { "allele": "A", "end": 512, "referenceAllele": "G", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN003579", "geneNCBI_id": 2184, "geneSymbol": "FAH", "hgvs": [ "NM_000137.4:c.456G>A" ], "proteinEffect": { "hgvs": "NP_000128.1:p.Trp152Ter", "hgvsWellDefined": "NP_000128.1:p.Trp152_Ser419delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674721", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000561421.6:c.456G>A" }, "RefSeq": { "hgvs": "NM_000137.4:c.456G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000453347.2:p.Trp152Ter" }, "RefSeq": { "hgvs": "NP_000128.1:p.Trp152Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828508871", "coordinates": [ { "allele": "A", "end": 602, "referenceAllele": "G", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN003579", "geneNCBI_id": 2184, "geneSymbol": "FAH", "hgvs": [ "NM_001374377.1:c.456G>A" ], "proteinEffect": { "hgvs": "NP_001361306.1:p.Trp152Ter", "hgvsWellDefined": "NP_001361306.1:p.Trp152_Ser419delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693249" }, { "@id": "http://reg.genome.network/allele/PA2573072887", "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "G", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN003579", "geneNCBI_id": 2184, "geneSymbol": "FAH", "hgvs": [ "NM_001374380.1:c.456G>A" ], "proteinEffect": { "hgvs": "NP_001361309.1:p.Trp152Ter", "hgvsWellDefined": "NP_001361309.1:p.Trp152_Ser419delinsLeuHisLeuProValGlyTyrHisGlyArgAlaSerSerValValValSerGlyThrProIleArgArgProMetGlyGlnMetLysProAspAspSerLysProProValTyrGlyAlaCysLysLeuLeuAspMetGluLeuGluMetAlaPhePheValGlyProGlyAsnArgLeuGlyGluProIleProIleSerLysAlaHisGluHisIlePheGlyMetValLeuMetAsnAspTrpSerAlaArgAspIleGlnLysTrpGluTyrValProLeuGlyProPheLeuGlyLysSerPheGlyThrThrValSerProTrpValValProMetAspAlaLeuMetProPheAlaValProAsnProLysGlnAspProArgProLeuProTyrLeuCysHisAspGluProTyrThrPheAspIleAsnLeuSerValAsnLeuLysGlyGluGlyMetSerGlnAlaAlaThrIleCysLysSerAsnPheLysTyrMetTyrTrpThrMetLeuGlnGlnLeuThrHisHisSerValAsnGlyCysAsnLeuArgProGlyAspLeuLeuAlaSerGlyThrIleSerGlyProGluProGluAsnPheGlySerMetLeuGluLeuSerTrpLysGlyThrLysProIleAspLeuGlyAsnGlyGlnThrArgLysPheLeuLeuAspGlyAspGluValIleIleThrGlyTyrCysGlnGlyAspGlyTyrArgIleGlyPheGlyGlnCysAlaGlyLysValLeuProAlaLeuLeuProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693250" } ], "type": "nucleotide" }