{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2682224", "communityStandardTitle": [ "NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=800333[alleleid]", "alleleId": 800333, "preferredName": "NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/812093", "RCV": [ "RCV001002683", "RCV002549188" ], "variationId": 812093 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/3-158363436-C-T", "id": "3-158363436-C-T", "variant": "3:158363436 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.158363436C>T?assembly=hg19", "id": "chr3:g.158363436C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.158645647C>T?assembly=hg38", "id": "chr3:g.158645647C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/766234016", "rs": 766234016 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-158363436-C-T?dataset=gnomad_r2_1", "id": "3-158363436-C-T", "variant": "3:158363436 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-158645647-C-T?dataset=gnomad_r3", "id": "3-158645647-C-T", "variant": "3:158645647 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-158645647-C-T?dataset=gnomad_r4", "id": "3-158645647-C-T", "variant": "3:158645647 C / T" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 158645647, "referenceAllele": "C", "start": 158645646 } ], "hgvs": [ "NC_000003.12:g.158645647C>T", "CM000665.2:g.158645647C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 158363436, "referenceAllele": "C", "start": 158363435 } ], "hgvs": [ "NC_000003.11:g.158363436C>T", "CM000665.1:g.158363436C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 159846130, "referenceAllele": "C", "start": 159846129 } ], "hgvs": [ "NC_000003.10:g.159846130C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 6120, "referenceAllele": "C", "start": 6119 } ], "hgvs": [ "NG_008441.1:g.6120C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001102" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000486715.6:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000419038.1:p.Arg34Ter", "hgvsWellDefined": "ENSP00000419038.1:p.Arg34_Asn751delinsTrpSerSerSerGlyValIleProAsnGluLysIleArgAsnIleGlyIleSerAlaHisIleAspSerGlyLysThrThrLeuThrGluArgValLeuTyrTyrThrGlyArgIleAlaLysMetHisGluValLysGlyLysAspGlyValGlyAlaValMetAspSerMetGluLeuGluArgGlnArgGlyIleThrIleGlnSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757546", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000486715.6:c.100C>T" }, "RefSeq": { "hgvs": "NM_024996.7:c.100C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000419038.1:p.Arg34Ter" }, "RefSeq": { "hgvs": "NP_079272.4:p.Arg34Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 138, "referenceAllele": "C", "start": 137 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000264263.9:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000264263.5:p.Arg34Ter", "hgvsWellDefined": "ENSP00000264263.5:p.Arg34_Asn770delinsTrpSerSerSerGlyValIleProAsnGluLysIleArgAsnIleGlyIleSerAlaHisIleAspSerGlyLysThrThrLeuThrGluArgValLeuTyrTyrThrGlyArgIleAlaLysMetHisGluValLysGlyLysAspGlyValGlyAlaValMetAspSerMetGluLeuGluArgGlnArgGlyIleThrIleGlnSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyHisPheLeuArgAspPheLeuProLeuLeuTrpAsnTrpAspArgArgSerGlySerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251466" }, { "coordinates": [ { "allele": "T", "end": 196, "referenceAllele": "C", "start": 195 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000464732.1:c.-126C>T" ], "proteinEffect": { "hgvs": "ENSP00000417532.1:n.-126C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS308489" }, { "coordinates": [ { "allele": "T", "end": 207, "referenceAllele": "C", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000478254.5:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000417225.1:p.Arg34Ter", "hgvsWellDefined": "ENSP00000417225.1:p.Arg34_Gln453delinsTrpSerSerSerGlyValIleProAsnGluLysIleArgAsnIleGlyIleSerAlaHisIleAspSerGlyLysThrThrLeuThrGluArgValLeuTyrTyrThrGlyArgIleAlaLysMetHisGluValLysGlyLysAspGlyValGlyAlaValMetAspSerMetGluLeuGluArgGlnArgGlyIleThrIleGlnSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysAlaThrIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAlaSerThrGluLysTyrMetProGluThrSerValHisCysLeuAlaLeuThrValLeuValGluThrHisSerGlnThrLysProThrAlaAlaPheLeuTrpSerGlnPheMetPheLeuIleLeuSerPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS318900" }, { "coordinates": [ { "allele": "T", "end": 207, "referenceAllele": "C", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000478576.5:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000418755.1:p.Arg34Ter", "hgvsWellDefined": "ENSP00000418755.1:p.Arg34_Phe591delinsTrpSerSerSerGlyValIleProAsnGluLysIleArgAsnIleGlyIleSerAlaHisIleAspSerGlyLysThrThrLeuThrGluArgValLeuTyrTyrThrGlyArgIleAlaLysMetHisGluValLysGlyLysAspGlyValGlyAlaValMetAspSerMetGluLeuGluArgGlnArgGlyIleThrIleGlnSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysValAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS319154" }, { "coordinates": [ { "allele": "T", "end": 457, "referenceAllele": "C", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000486715.5:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000419038.1:p.Arg34Ter", "hgvsWellDefined": "ENSP00000419038.1:p.Arg34_Asn751delinsTrpSerSerSerGlyValIleProAsnGluLysIleArgAsnIleGlyIleSerAlaHisIleAspSerGlyLysThrThrLeuThrGluArgValLeuTyrTyrThrGlyArgIleAlaLysMetHisGluValLysGlyLysAspGlyValGlyAlaValMetAspSerMetGluLeuGluArgGlnArgGlyIleThrIleGlnSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS325458" }, { "@id": "http://reg.genome.network/allele/PA2826928116", "coordinates": [ { "allele": "T", "end": 207, "referenceAllele": "C", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308164.1:c.100C>T" ], "proteinEffect": { "hgvs": "NP_001295093.1:p.Arg34Ter", "hgvsWellDefined": "NP_001295093.1:p.Arg34_Asn770delinsTrpSerSerSerGlyValIleProAsnGluLysIleArgAsnIleGlyIleSerAlaHisIleAspSerGlyLysThrThrLeuThrGluArgValLeuTyrTyrThrGlyArgIleAlaLysMetHisGluValLysGlyLysAspGlyValGlyAlaValMetAspSerMetGluLeuGluArgGlnArgGlyIleThrIleGlnSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyHisPheLeuArgAspPheLeuProLeuLeuTrpAsnTrpAspArgArgSerGlySerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026187" }, { "@id": "http://reg.genome.network/allele/PA2826928481", "coordinates": [ { "allele": "T", "end": 207, "referenceAllele": "C", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308166.1:c.100C>T" ], "proteinEffect": { "hgvs": "NP_001295095.1:p.Arg34Ter", "hgvsWellDefined": "NP_001295095.1:p.Arg34_Phe591delinsTrpSerSerSerGlyValIleProAsnGluLysIleArgAsnIleGlyIleSerAlaHisIleAspSerGlyLysThrThrLeuThrGluArgValLeuTyrTyrThrGlyArgIleAlaLysMetHisGluValLysGlyLysAspGlyValGlyAlaValMetAspSerMetGluLeuGluArgGlnArgGlyIleThrIleGlnSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysValAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026189" }, { "@id": "http://reg.genome.network/allele/PA916053075", "coordinates": [ { "allele": "T", "end": 207, "referenceAllele": "C", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_024996.5:c.100C>T" ], "proteinEffect": { "hgvs": "NP_079272.4:p.Arg34Ter", "hgvsWellDefined": "NP_079272.4:p.Arg34_Asn751delinsTrpSerSerSerGlyValIleProAsnGluLysIleArgAsnIleGlyIleSerAlaHisIleAspSerGlyLysThrThrLeuThrGluArgValLeuTyrTyrThrGlyArgIleAlaLysMetHisGluValLysGlyLysAspGlyValGlyAlaValMetAspSerMetGluLeuGluArgGlnArgGlyIleThrIleGlnSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038154" }, { "coordinates": [ { "allele": "T", "end": 238, "referenceAllele": "C", "start": 237 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "XM_006713795.1:c.100C>T" ], "proteinEffect": { "hgvs": "XP_006713858.1:p.Arg34Ter", "hgvsWellDefined": "XP_006713858.1:p.Arg34_Asn712delinsTrpSerSerSerGlyValIleProAsnGluLysIleArgAsnIleGlyIleSerAlaHisIleAspSerGlyLysThrThrLeuThrGluArgValLeuTyrTyrThrGlyArgIleAlaLysMetHisGluValLysGlyLysAspGlyValGlyAlaValMetAspSerMetGluLeuGluArgGlnArgGlyIleThrIleGlnSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetSerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070364" }, { "coordinates": [ { "allele": "T", "end": 211, "referenceAllele": "C", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "XM_006713795.2:c.100C>T" ], "proteinEffect": { "hgvs": "XP_006713858.1:p.Arg34Ter", "hgvsWellDefined": "XP_006713858.1:p.Arg34_Asn712delinsTrpSerSerSerGlyValIleProAsnGluLysIleArgAsnIleGlyIleSerAlaHisIleAspSerGlyLysThrThrLeuThrGluArgValLeuTyrTyrThrGlyArgIleAlaLysMetHisGluValLysGlyLysAspGlyValGlyAlaValMetAspSerMetGluLeuGluArgGlnArgGlyIleThrIleGlnSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetSerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538583" }, { "@id": "http://reg.genome.network/allele/PA2828506390", "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374355.1:c.100C>T" ], "proteinEffect": { "hgvs": "NP_001361284.1:p.Arg34Ter", "hgvsWellDefined": "NP_001361284.1:p.Arg34_Asn724delinsTrpSerSerSerGlyValIleProAsnGluLysIleArgAsnIleGlyIleSerAlaHisIleAspSerGlyLysThrThrLeuThrGluArgValLeuTyrTyrThrGlyArgIleAlaLysMetHisGluValLysGlyLysAspGlyValGlyAlaValMetAspSerMetGluLeuGluArgGlnArgGlyIleThrIleGlnSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyHisPheLeuArgAspPheLeuProLeuLeuTrpAsnTrpAspArgArgSerGlySerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693242" }, { "@id": "http://reg.genome.network/allele/PA2828506780", "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374356.1:c.100C>T" ], "proteinEffect": { "hgvs": "NP_001361285.1:p.Arg34Ter", "hgvsWellDefined": "NP_001361285.1:p.Arg34_Asn712delinsTrpSerSerSerGlyValIleProAsnGluLysIleArgAsnIleGlyIleSerAlaHisIleAspSerGlyLysThrThrLeuThrGluArgValLeuTyrTyrThrGlyArgIleAlaLysMetHisGluValLysGlyLysAspGlyValGlyAlaValMetAspSerMetGluLeuGluArgGlnArgGlyIleThrIleGlnSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetSerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693243" }, { "coordinates": [ { "allele": "T", "end": 374, "referenceAllele": "C", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374357.1:c.-126C>T" ], "proteinEffect": { "hgvs": "NP_001361286.1:n.-126C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693244" }, { "@id": "http://reg.genome.network/allele/PA2828507537", "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374358.1:c.100C>T" ], "proteinEffect": { "hgvs": "NP_001361287.1:p.Arg34Ter", "hgvsWellDefined": "NP_001361287.1:p.Arg34_Asn598delinsTrpSerSerSerGlyValIleProAsnGluLysIleArgAsnIleGlyIleSerAlaHisIleAspSerGlyLysThrThrLeuThrGluArgValLeuTyrTyrThrGlyArgIleAlaLysMetHisGluIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693245" }, { "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374359.1:c.-130C>T" ], "proteinEffect": { "hgvs": "NP_001361288.1:n.-130C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693246" }, { "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374360.1:c.-130C>T" ], "proteinEffect": { "hgvs": "NP_001361289.1:n.-130C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693247" }, { "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374361.1:c.-130C>T" ], "proteinEffect": { "hgvs": "NP_001361290.1:n.-130C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693248" }, { "@id": "http://reg.genome.network/allele/PA916053075", "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_024996.7:c.100C>T" ], "proteinEffect": { "hgvs": "NP_079272.4:p.Arg34Ter", "hgvsWellDefined": "NP_079272.4:p.Arg34_Asn751delinsTrpSerSerSerGlyValIleProAsnGluLysIleArgAsnIleGlyIleSerAlaHisIleAspSerGlyLysThrThrLeuThrGluArgValLeuTyrTyrThrGlyArgIleAlaLysMetHisGluValLysGlyLysAspGlyValGlyAlaValMetAspSerMetGluLeuGluArgGlnArgGlyIleThrIleGlnSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698799", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000486715.6:c.100C>T" }, "RefSeq": { "hgvs": "NM_024996.7:c.100C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000419038.1:p.Arg34Ter" }, "RefSeq": { "hgvs": "NP_079272.4:p.Arg34Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164499.1:n.208C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705743" }, { "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164500.1:n.208C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705744" }, { "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164501.1:n.208C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705745" }, { "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164502.1:n.208C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705746" }, { "@id": "http://reg.genome.network/allele/PA2826928116", "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308164.2:c.100C>T" ], "proteinEffect": { "hgvs": "NP_001295093.1:p.Arg34Ter", "hgvsWellDefined": "NP_001295093.1:p.Arg34_Asn770delinsTrpSerSerSerGlyValIleProAsnGluLysIleArgAsnIleGlyIleSerAlaHisIleAspSerGlyLysThrThrLeuThrGluArgValLeuTyrTyrThrGlyArgIleAlaLysMetHisGluValLysGlyLysAspGlyValGlyAlaValMetAspSerMetGluLeuGluArgGlnArgGlyIleThrIleGlnSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyHisPheLeuArgAspPheLeuProLeuLeuTrpAsnTrpAspArgArgSerGlySerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717234" }, { "@id": "http://reg.genome.network/allele/PA2826928481", "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308166.2:c.100C>T" ], "proteinEffect": { "hgvs": "NP_001295095.1:p.Arg34Ter", "hgvsWellDefined": "NP_001295095.1:p.Arg34_Phe591delinsTrpSerSerSerGlyValIleProAsnGluLysIleArgAsnIleGlyIleSerAlaHisIleAspSerGlyLysThrThrLeuThrGluArgValLeuTyrTyrThrGlyArgIleAlaLysMetHisGluValLysGlyLysAspGlyValGlyAlaValMetAspSerMetGluLeuGluArgGlnArgGlyIleThrIleGlnSerAlaAlaThrTyrThrMetTrpLysAspValAsnIleAsnIleIleAspThrProGlyHisValAspPheThrIleGluValGluArgAlaLeuArgValLeuAspGlyAlaValLeuValLeuCysAlaValGlyGlyValGlnCysGlnThrMetThrValAsnArgGlnMetLysArgTyrAsnValProPheLeuThrPheIleAsnLysLeuAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysValAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717236" } ], "type": "nucleotide" }