{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA355175578", "communityStandardTitle": [ "NM_024996.7(GFM1):c.307C>T (p.Gln103Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2041964[alleleid]", "alleleId": 2041964, "preferredName": "NM_024996.7(GFM1):c.307C>T (p.Gln103Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1980192", "RCV": [ "RCV002756445" ], "variationId": 1980192 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.158364026C>T?assembly=hg19", "id": "chr3:g.158364026C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.158646237C>T?assembly=hg38", "id": "chr3:g.158646237C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/756718556", "rs": 756718556 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-158646237-C-T?dataset=gnomad_r4", "id": "3-158646237-C-T", "variant": "3:158646237 C / T" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 158646237, "referenceAllele": "C", "start": 158646236 } ], "hgvs": [ "NC_000003.12:g.158646237C>T", "CM000665.2:g.158646237C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 158364026, "referenceAllele": "C", "start": 158364025 } ], "hgvs": [ "NC_000003.11:g.158364026C>T", "CM000665.1:g.158364026C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 159846720, "referenceAllele": "C", "start": 159846719 } ], "hgvs": [ "NC_000003.10:g.159846720C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 6710, "referenceAllele": "C", "start": 6709 } ], "hgvs": [ "NG_008441.1:g.6710C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001102" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000486715.6:c.307C>T" ], "proteinEffect": { "hgvs": "ENSP00000419038.1:p.Gln103Ter", "hgvsWellDefined": "ENSP00000419038.1:p.Gln103_Asn751delinsSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757546", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000486715.6:c.307C>T" }, "RefSeq": { "hgvs": "NM_024996.7:c.307C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000419038.1:p.Gln103Ter" }, "RefSeq": { "hgvs": "NP_079272.4:p.Gln103Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 345, "referenceAllele": "C", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000264263.9:c.307C>T" ], "proteinEffect": { "hgvs": "ENSP00000264263.5:p.Gln103Ter", "hgvsWellDefined": "ENSP00000264263.5:p.Gln103_Asn770delinsSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyHisPheLeuArgAspPheLeuProLeuLeuTrpAsnTrpAspArgArgSerGlySerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251466" }, { "coordinates": [ { "allele": "T", "end": 403, "referenceAllele": "C", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000464732.1:c.82C>T" ], "proteinEffect": { "hgvs": "ENSP00000417532.1:p.Gln28Ter", "hgvsWellDefined": "ENSP00000417532.1:p.Gln28Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS308489" }, { "coordinates": [ { "allele": "T", "end": 414, "referenceAllele": "C", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000478254.5:c.307C>T" ], "proteinEffect": { "hgvs": "ENSP00000417225.1:p.Gln103Ter", "hgvsWellDefined": "ENSP00000417225.1:p.Gln103_Gln453delinsSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysAlaThrIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAlaSerThrGluLysTyrMetProGluThrSerValHisCysLeuAlaLeuThrValLeuValGluThrHisSerGlnThrLysProThrAlaAlaPheLeuTrpSerGlnPheMetPheLeuIleLeuSerPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS318900" }, { "coordinates": [ { "allele": "T", "end": 414, "referenceAllele": "C", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000478576.5:c.307C>T" ], "proteinEffect": { "hgvs": "ENSP00000418755.1:p.Gln103Ter", "hgvsWellDefined": "ENSP00000418755.1:p.Gln103_Phe591delinsSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysValAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS319154" }, { "coordinates": [ { "allele": "A", "end": 361, "endIntronDirection": "-", "endIntronOffset": 27, "referenceAllele": "G", "start": 361, "startIntronDirection": "-", "startIntronOffset": 28 } ], "gene": "http://reg.genome.network/gene/GN013347", "geneNCBI_id": 56925, "geneSymbol": "LXN", "hgvs": [ "ENST00000482640.5:c.362-28G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS322287" }, { "coordinates": [ { "allele": "T", "end": 664, "referenceAllele": "C", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000486715.5:c.307C>T" ], "proteinEffect": { "hgvs": "ENSP00000419038.1:p.Gln103Ter", "hgvsWellDefined": "ENSP00000419038.1:p.Gln103_Asn751delinsSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS325458" }, { "@id": "http://reg.genome.network/allele/PA2826928151", "coordinates": [ { "allele": "T", "end": 414, "referenceAllele": "C", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308164.1:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001295093.1:p.Gln103Ter", "hgvsWellDefined": "NP_001295093.1:p.Gln103_Asn770delinsSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyHisPheLeuArgAspPheLeuProLeuLeuTrpAsnTrpAspArgArgSerGlySerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026187" }, { "@id": "http://reg.genome.network/allele/PA2826928517", "coordinates": [ { "allele": "T", "end": 414, "referenceAllele": "C", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308166.1:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001295095.1:p.Gln103Ter", "hgvsWellDefined": "NP_001295095.1:p.Gln103_Phe591delinsSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysValAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026189" }, { "@id": "http://reg.genome.network/allele/PA2830048340", "coordinates": [ { "allele": "T", "end": 414, "referenceAllele": "C", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_024996.5:c.307C>T" ], "proteinEffect": { "hgvs": "NP_079272.4:p.Gln103Ter", "hgvsWellDefined": "NP_079272.4:p.Gln103_Asn751delinsSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038154" }, { "coordinates": [ { "allele": "T", "end": 445, "referenceAllele": "C", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "XM_006713795.1:c.307C>T" ], "proteinEffect": { "hgvs": "XP_006713858.1:p.Gln103Ter", "hgvsWellDefined": "XP_006713858.1:p.Gln103_Asn712delinsSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetSerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070364" }, { "coordinates": [ { "allele": "T", "end": 418, "referenceAllele": "C", "start": 417 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "XM_006713795.2:c.307C>T" ], "proteinEffect": { "hgvs": "XP_006713858.1:p.Gln103Ter", "hgvsWellDefined": "XP_006713858.1:p.Gln103_Asn712delinsSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetSerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538583" }, { "@id": "http://reg.genome.network/allele/PA2828506425", "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374355.1:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001361284.1:p.Gln103Ter", "hgvsWellDefined": "NP_001361284.1:p.Gln103_Asn724delinsSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyHisPheLeuArgAspPheLeuProLeuLeuTrpAsnTrpAspArgArgSerGlySerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693242" }, { "@id": "http://reg.genome.network/allele/PA2828506815", "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374356.1:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001361285.1:p.Gln103Ter", "hgvsWellDefined": "NP_001361285.1:p.Gln103_Asn712delinsSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetSerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693243" }, { "@id": "http://reg.genome.network/allele/PA2580233656", "coordinates": [ { "allele": "T", "end": 581, "referenceAllele": "C", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374357.1:c.82C>T" ], "proteinEffect": { "hgvs": "NP_001361286.1:p.Gln28Ter", "hgvsWellDefined": "NP_001361286.1:p.Gln28_Asn676delinsSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693244" }, { "coordinates": [ { "allele": "T", "end": 342, "endIntronDirection": "+", "endIntronOffset": 456, "referenceAllele": "C", "start": 342, "startIntronDirection": "+", "startIntronOffset": 455 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374358.1:c.234+456C>T" ], "proteinEffect": { "hgvs": "NP_001361287.1:n.234+456C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693245" }, { "coordinates": [ { "allele": "T", "end": 342, "endIntronDirection": "+", "endIntronOffset": 456, "referenceAllele": "C", "start": 342, "startIntronDirection": "+", "startIntronOffset": 455 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374359.1:c.5+456C>T" ], "proteinEffect": { "hgvs": "NP_001361288.1:n.5+456C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693246" }, { "coordinates": [ { "allele": "T", "end": 342, "endIntronDirection": "+", "endIntronOffset": 456, "referenceAllele": "C", "start": 342, "startIntronDirection": "+", "startIntronOffset": 455 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374360.1:c.5+456C>T" ], "proteinEffect": { "hgvs": "NP_001361289.1:n.5+456C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693247" }, { "coordinates": [ { "allele": "T", "end": 342, "endIntronDirection": "+", "endIntronOffset": 456, "referenceAllele": "C", "start": 342, "startIntronDirection": "+", "startIntronOffset": 455 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374361.1:c.5+456C>T" ], "proteinEffect": { "hgvs": "NP_001361290.1:n.5+456C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693248" }, { "@id": "http://reg.genome.network/allele/PA2830048340", "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_024996.7:c.307C>T" ], "proteinEffect": { "hgvs": "NP_079272.4:p.Gln103Ter", "hgvsWellDefined": "NP_079272.4:p.Gln103_Asn751delinsSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698799", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000486715.6:c.307C>T" }, "RefSeq": { "hgvs": "NM_024996.7:c.307C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000419038.1:p.Gln103Ter" }, "RefSeq": { "hgvs": "NP_079272.4:p.Gln103Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164499.1:n.415C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705743" }, { "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164500.1:n.415C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705744" }, { "coordinates": [ { "allele": "T", "end": 342, "endIntronDirection": "+", "endIntronOffset": 456, "referenceAllele": "C", "start": 342, "startIntronDirection": "+", "startIntronOffset": 455 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164501.1:n.342+456C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705745" }, { "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164502.1:n.415C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705746" }, { "@id": "http://reg.genome.network/allele/PA2826928151", "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308164.2:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001295093.1:p.Gln103Ter", "hgvsWellDefined": "NP_001295093.1:p.Gln103_Asn770delinsSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyHisPheLeuArgAspPheLeuProLeuLeuTrpAsnTrpAspArgArgSerGlySerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717234" }, { "@id": "http://reg.genome.network/allele/PA2826928517", "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308166.2:c.307C>T" ], "proteinEffect": { "hgvs": "NP_001295095.1:p.Gln103Ter", "hgvsWellDefined": "NP_001295095.1:p.Gln103_Phe591delinsSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysValAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717236" } ], "type": "nucleotide" }