{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16044402", "communityStandardTitle": [ "NM_001083962.2(TCF4):c.1136dup (p.Leu379PhefsTer9)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362449[alleleid]", "alleleId": 362449, "preferredName": "NM_001083962.2(TCF4):c.1136dup (p.Leu379fs)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375631", "RCV": [ "RCV000417112" ], "variationId": 375631 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.52924556dupA?assembly=hg19", "id": "chr18:g.52924556dupA" }, { "@id": "http://myvariant.info/v1/variant/chr18:g.52924555_52924556insA?assembly=hg19", "id": "chr18:g.52924555_52924556insA" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.55257325dupA?assembly=hg38", "id": "chr18:g.55257325dupA" }, { "@id": "http://myvariant.info/v1/variant/chr18:g.55257324_55257325insA?assembly=hg38", "id": "chr18:g.55257324_55257325insA" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519592", "rs": 1057519592 } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 55257326, "referenceAllele": "", "start": 55257326 } ], "hgvs": [ "NC_000018.10:g.55257326dup", "CM000680.2:g.55257326dup" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 52924557, "referenceAllele": "", "start": 52924557 } ], "hgvs": [ "NC_000018.9:g.52924557dup", "CM000680.1:g.52924557dup" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 51075555, "referenceAllele": "", "start": 51075555 } ], "hgvs": [ "NC_000018.8:g.51075555dup" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "T", "end": 336305, "referenceAllele": "", "start": 336305 } ], "hgvs": [ "NG_011716.1:g.336305dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS001922" }, { "coordinates": [ { "allele": "T", "end": 383669, "referenceAllele": "", "start": 383669 } ], "hgvs": [ "NG_011716.2:g.383669dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS616147" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1311, "referenceAllele": "", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000354452.8:c.1136dup" ], "proteinEffect": { "hgvs": "ENSP00000346440.3:p.Leu379PhefsTer9", "hgvsWellDefined": "ENSP00000346440.3:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS748567", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354452.8:c.1136dup" }, "RefSeq": { "hgvs": "NM_001083962.2:c.1136dup" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346440.3:p.Leu379PhefsTer9" }, "RefSeq": { "hgvs": "NP_001077431.1:p.Leu379PhefsTer9" } } } }, { "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000630720.3:c.653dup" ], "proteinEffect": { "hgvs": "ENSP00000487218.1:p.Leu218PhefsTer9", "hgvsWellDefined": "ENSP00000487218.1:p.[Leu218_Ser220delinsPheThr;Gln222_Asp234delinsPhe;Ile236_Arg240delinsLysPro;His242_Ser247del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS762535" }, { "coordinates": [ { "allele": "T", "end": 1345, "referenceAllele": "", "start": 1345 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000635822.2:c.1136dup" ], "proteinEffect": { "hgvs": "ENSP00000490451.1:p.Leu379PhefsTer9", "hgvsWellDefined": "ENSP00000490451.1:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS762662" }, { "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000635990.2:n.816dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS762789" }, { "coordinates": [ { "allele": "T", "end": 1762, "referenceAllele": "", "start": 1762 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000636400.2:c.1064dup" ], "proteinEffect": { "hgvs": "ENSP00000490006.1:p.Leu355PhefsTer9", "hgvsWellDefined": "ENSP00000490006.1:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS763085" }, { "coordinates": [ { "allele": "T", "end": 1703, "referenceAllele": "", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000636751.2:c.*844dup" ], "proteinEffect": { "hgvs": "ENSP00000489783.1:n.*844dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS763352" }, { "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000636822.2:c.746dup" ], "proteinEffect": { "hgvs": "ENSP00000490883.1:p.Leu249PhefsTer9", "hgvsWellDefined": "ENSP00000490883.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS763407" }, { "coordinates": [ { "allele": "T", "end": 1315, "referenceAllele": "", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000637115.2:c.*1026dup" ], "proteinEffect": { "hgvs": "ENSP00000490234.1:n.*1026dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS763626" }, { "coordinates": [ { "allele": "T", "end": 973, "referenceAllele": "", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000637169.2:c.488dup" ], "proteinEffect": { "hgvs": "ENSP00000490832.1:p.Leu163PhefsTer9", "hgvsWellDefined": "ENSP00000490832.1:p.[Leu163_Ser165delinsPheThr;Gln167_Asp179delinsPhe;Ile181_Arg185delinsLysPro;His187_Ser192del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS763662" }, { "coordinates": [ { "allele": "T", "end": 1203, "referenceAllele": "", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000637239.2:n.1203dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS763719" }, { "coordinates": [ { "allele": "T", "end": 830, "referenceAllele": "", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000637250.2:n.830dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS763727" }, { "coordinates": [ { "allele": "T", "end": 734, "referenceAllele": "", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000637923.2:c.734dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS764212" }, { "coordinates": [ { "allele": "T", "end": 1366, "referenceAllele": "", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000638154.3:c.1163dup" ], "proteinEffect": { "hgvs": "ENSP00000490625.2:p.Leu388PhefsTer9", "hgvsWellDefined": "ENSP00000490625.2:p.[Leu388_Ser390delinsPheThr;Gln392_Asp404delinsPhe;Ile406_Arg410delinsLysPro;His412_Ser417del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS764384" }, { "coordinates": [ { "allele": "T", "end": 996, "referenceAllele": "", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000643689.1:c.746dup" ], "proteinEffect": { "hgvs": "ENSP00000494380.1:p.Leu249PhefsTer9", "hgvsWellDefined": "ENSP00000494380.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS767412" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000674764.1:c.*747dup" ], "proteinEffect": { "hgvs": "ENSP00000502213.1:n.*747dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS774681" }, { "coordinates": [ { "allele": "T", "end": 876, "referenceAllele": "", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000675707.1:c.746dup" ], "proteinEffect": { "hgvs": "ENSP00000501758.1:p.Leu249PhefsTer9", "hgvsWellDefined": "ENSP00000501758.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS775490" }, { "coordinates": [ { "allele": "T", "end": 1351, "referenceAllele": "", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000354452.7:c.1136dup" ], "proteinEffect": { "hgvs": "ENSP00000346440.3:p.Leu379PhefsTer9", "hgvsWellDefined": "ENSP00000346440.3:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS263131" }, { "coordinates": [ { "allele": "T", "end": 1748, "referenceAllele": "", "start": 1748 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000356073.8:c.1136dup" ], "proteinEffect": { "hgvs": "ENSP00000348374.4:p.Leu379PhefsTer9", "hgvsWellDefined": "ENSP00000348374.4:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS263636" }, { "coordinates": [ { "allele": "T", "end": 1572, "referenceAllele": "", "start": 1572 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000398339.5:c.1442dup" ], "proteinEffect": { "hgvs": "ENSP00000381382.1:p.Leu481PhefsTer9", "hgvsWellDefined": "ENSP00000381382.1:p.[Leu481_Ser483delinsPheThr;Gln485_Asp497delinsPhe;Ile499_Arg503delinsLysPro;His505_Ser510del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS278231" }, { "coordinates": [ { "allele": "T", "end": 1140, "referenceAllele": "", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000457482.7:c.656dup" ], "proteinEffect": { "hgvs": "ENSP00000409447.2:p.Leu219PhefsTer9", "hgvsWellDefined": "ENSP00000409447.2:p.[Leu219_Ser221delinsPheThr;Gln223_Asp235delinsPhe;Ile237_Arg241delinsLysPro;His243_Ser248del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS303973" }, { "coordinates": [ { "allele": "T", "end": 1604, "referenceAllele": "", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000537578.5:c.1064dup" ], "proteinEffect": { "hgvs": "ENSP00000440731.1:p.Leu355PhefsTer9", "hgvsWellDefined": "ENSP00000440731.1:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS360846" }, { "coordinates": [ { "allele": "T", "end": 942, "referenceAllele": "", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000537856.7:c.746dup" ], "proteinEffect": { "hgvs": "ENSP00000439827.2:p.Leu249PhefsTer9", "hgvsWellDefined": "ENSP00000439827.2:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS360997" }, { "coordinates": [ { "allele": "T", "end": 1359, "referenceAllele": "", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000540999.5:c.1064dup" ], "proteinEffect": { "hgvs": "ENSP00000445202.1:p.Leu355PhefsTer9", "hgvsWellDefined": "ENSP00000445202.1:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS362707" }, { "coordinates": [ { "allele": "T", "end": 1185, "referenceAllele": "", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000543082.5:c.1010dup" ], "proteinEffect": { "hgvs": "ENSP00000439656.1:p.Leu337PhefsTer9", "hgvsWellDefined": "ENSP00000439656.1:p.[Leu337_Ser339delinsPheThr;Gln341_Asp353delinsPhe;Ile355_Arg359delinsLysPro;His361_Ser366del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS363812" }, { "coordinates": [ { "allele": "T", "end": 1204, "referenceAllele": "", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000544241.6:c.923dup" ], "proteinEffect": { "hgvs": "ENSP00000441562.2:p.Leu308PhefsTer9", "hgvsWellDefined": "ENSP00000441562.2:p.[Leu308_Ser310delinsPheThr;Gln312_Asp324delinsPhe;Ile326_Arg330delinsLysPro;His332_Ser337del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS364455" }, { "coordinates": [ { "allele": "T", "end": 798, "referenceAllele": "", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000561831.7:c.656dup" ], "proteinEffect": { "hgvs": "ENSP00000457765.1:p.Leu219PhefsTer9", "hgvsWellDefined": "ENSP00000457765.1:p.[Leu219_Ser221delinsPheThr;Gln223_Asp235delinsPhe;Ile237_Arg241delinsLysPro;His243_Ser248del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS376381" }, { "coordinates": [ { "allele": "T", "end": 1145, "referenceAllele": "", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000561992.5:c.746dup" ], "proteinEffect": { "hgvs": "ENSP00000455179.1:p.Leu249PhefsTer9", "hgvsWellDefined": "ENSP00000455179.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS376488" }, { "coordinates": [ { "allele": "T", "end": 1227, "referenceAllele": "", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000562680.5:n.1227dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS376940" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000563760.5:n.649dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS377634" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000564228.5:c.923dup" ], "proteinEffect": { "hgvs": "ENSP00000455261.1:p.Leu308PhefsTer9", "hgvsWellDefined": "ENSP00000455261.1:p.[Leu308_Ser310delinsPheThr;Gln312_Asp324delinsPhe;Ile326_Arg330delinsLysPro;His332_Ser337del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS377953" }, { "coordinates": [ { "allele": "T", "end": 1717, "referenceAllele": "", "start": 1717 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000564403.6:c.1154dup" ], "proteinEffect": { "hgvs": "ENSP00000457263.1:p.Leu385PhefsTer9", "hgvsWellDefined": "ENSP00000457263.1:p.[Leu385_Ser387delinsPheThr;Gln389_Asp401delinsPhe;Ile403_Arg407delinsLysPro;His409_Ser414del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS378069" }, { "coordinates": [ { "allele": "T", "end": 1333, "referenceAllele": "", "start": 1333 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000564999.5:c.1136dup" ], "proteinEffect": { "hgvs": "ENSP00000457649.1:p.Leu379PhefsTer9", "hgvsWellDefined": "ENSP00000457649.1:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS378480" }, { "coordinates": [ { "allele": "T", "end": 1365, "referenceAllele": "", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000565018.6:c.884dup" ], "proteinEffect": { "hgvs": "ENSP00000455984.2:p.Leu295PhefsTer9", "hgvsWellDefined": "ENSP00000455984.2:p.[Leu295_Ser297delinsPheThr;Gln299_Asp311delinsPhe;Ile313_Arg317delinsLysPro;His319_Ser324del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS378492" }, { "coordinates": [ { "allele": "T", "end": 1124, "referenceAllele": "", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000566279.5:c.956dup" ], "proteinEffect": { "hgvs": "ENSP00000456125.1:p.Leu319PhefsTer9", "hgvsWellDefined": "ENSP00000456125.1:p.[Leu319_Ser321delinsPheThr;Gln323_Asp335delinsPhe;Ile337_Arg341delinsLysPro;His343_Ser348del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS379326" }, { "coordinates": [ { "allele": "T", "end": 1127, "referenceAllele": "", "start": 1127 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000566286.5:c.1127dup" ], "proteinEffect": { "hgvs": "ENSP00000455418.2:p.Leu376PhefsTer9", "hgvsWellDefined": "ENSP00000455418.2:p.[Leu376_Ser378delinsPheThr;Gln380_Asp392delinsPhe;Ile394_Arg398delinsLysPro;His400_Ser405del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS379331" }, { "coordinates": [ { "allele": "T", "end": 956, "referenceAllele": "", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000567880.5:c.956dup" ], "proteinEffect": { "hgvs": "ENSP00000454366.1:p.Leu319PhefsTer9", "hgvsWellDefined": "ENSP00000454366.1:p.[Leu319_Ser321delinsPheThr;Gln323_Asp335delinsPhe;Ile337_Arg341delinsLysPro;His343_Ser348del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS380404" }, { "coordinates": [ { "allele": "T", "end": 1162, "referenceAllele": "", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000568673.5:c.1064dup" ], "proteinEffect": { "hgvs": "ENSP00000455135.1:p.Leu355PhefsTer9", "hgvsWellDefined": "ENSP00000455135.1:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS380953" }, { "coordinates": [ { "allele": "T", "end": 1571, "referenceAllele": "", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000568740.5:c.1061dup" ], "proteinEffect": { "hgvs": "ENSP00000455346.1:p.Leu354PhefsTer9", "hgvsWellDefined": "ENSP00000455346.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS380991" }, { "coordinates": [ { "allele": "T", "end": 953, "referenceAllele": "", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000570177.6:c.746dup" ], "proteinEffect": { "hgvs": "ENSP00000454647.1:p.Leu249PhefsTer9", "hgvsWellDefined": "ENSP00000454647.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS381959" }, { "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000570287.6:c.656dup" ], "proteinEffect": { "hgvs": "ENSP00000455763.1:p.Leu219PhefsTer9", "hgvsWellDefined": "ENSP00000455763.1:p.[Leu219_Ser221delinsPheThr;Gln223_Asp235delinsPhe;Ile237_Arg241delinsLysPro;His243_Ser248del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS382029" }, { "coordinates": [ { "allele": "T", "end": 1568, "referenceAllele": "", "start": 1568 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000616053.4:c.884dup" ], "proteinEffect": { "hgvs": "ENSP00000478549.1:p.Leu295PhefsTer9", "hgvsWellDefined": "ENSP00000478549.1:p.[Leu295_Ser297delinsPheThr;Gln299_Asp311delinsPhe;Ile313_Arg317delinsLysPro;His319_Ser324del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS402894" }, { "coordinates": [ { "allele": "T", "end": 171, "referenceAllele": "", "start": 171 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000626466.1:n.171dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS406745" }, { "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000626584.2:c.488dup" ], "proteinEffect": { "hgvs": "ENSP00000486072.1:p.Leu163PhefsTer9", "hgvsWellDefined": "ENSP00000486072.1:p.[Leu163_Ser165delinsPheThr;Gln167_Asp179delinsPhe;Ile181_Arg185delinsLysPro;His187_Ser192del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS406758" }, { "coordinates": [ { "allele": "T", "end": 619, "referenceAllele": "", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000628689.2:c.*279dup" ], "proteinEffect": { "hgvs": "ENSP00000487010.1:n.*279dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS407093" }, { "coordinates": [ { "allele": "T", "end": 1667, "referenceAllele": "", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000629387.2:c.1136dup" ], "proteinEffect": { "hgvs": "ENSP00000486670.1:p.Leu379PhefsTer9", "hgvsWellDefined": "ENSP00000486670.1:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS407217" }, { "coordinates": [ { "allele": "T", "end": 726, "referenceAllele": "", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000630720.2:c.653dup" ], "proteinEffect": { "hgvs": "ENSP00000487218.1:p.Leu218PhefsTer9", "hgvsWellDefined": "ENSP00000487218.1:p.[Leu218_Ser220delinsPheThr;Gln222_Asp234delinsPhe;Ile236_Arg240delinsLysPro;His242_Ser247del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS407409" }, { "coordinates": [ { "allele": "T", "end": 1748, "referenceAllele": "", "start": 1748 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001083962.1:c.1136dup" ], "proteinEffect": { "hgvs": "NP_001077431.1:p.Leu379PhefsTer9", "hgvsWellDefined": "NP_001077431.1:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS010431" }, { "coordinates": [ { "allele": "T", "end": 1538, "referenceAllele": "", "start": 1538 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243226.2:c.1442dup" ], "proteinEffect": { "hgvs": "NP_001230155.2:p.Leu481PhefsTer9", "hgvsWellDefined": "NP_001230155.2:p.[Leu481_Ser483delinsPheThr;Gln485_Asp497delinsPhe;Ile499_Arg503delinsLysPro;His505_Ser510del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS018449" }, { "coordinates": [ { "allele": "T", "end": 1582, "referenceAllele": "", "start": 1582 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243227.1:c.1064dup" ], "proteinEffect": { "hgvs": "NP_001230156.1:p.Leu355PhefsTer9", "hgvsWellDefined": "NP_001230156.1:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS018450" }, { "coordinates": [ { "allele": "T", "end": 1692, "referenceAllele": "", "start": 1692 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243228.1:c.1154dup" ], "proteinEffect": { "hgvs": "NP_001230157.1:p.Leu385PhefsTer9", "hgvsWellDefined": "NP_001230157.1:p.[Leu385_Ser387delinsPheThr;Gln389_Asp401delinsPhe;Ile403_Arg407delinsLysPro;His409_Ser414del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS018451" }, { "coordinates": [ { "allele": "T", "end": 1221, "referenceAllele": "", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243230.1:c.1127dup" ], "proteinEffect": { "hgvs": "NP_001230159.1:p.Leu376PhefsTer9", "hgvsWellDefined": "NP_001230159.1:p.[Leu376_Ser378delinsPheThr;Gln380_Asp392delinsPhe;Ile394_Arg398delinsLysPro;His400_Ser405del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS018452" }, { "coordinates": [ { "allele": "T", "end": 1182, "referenceAllele": "", "start": 1182 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243231.1:c.1010dup" ], "proteinEffect": { "hgvs": "NP_001230160.1:p.Leu337PhefsTer9", "hgvsWellDefined": "NP_001230160.1:p.[Leu337_Ser339delinsPheThr;Gln341_Asp353delinsPhe;Ile355_Arg359delinsLysPro;His361_Ser366del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS018453" }, { "coordinates": [ { "allele": "T", "end": 1204, "referenceAllele": "", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243232.1:c.923dup" ], "proteinEffect": { "hgvs": "NP_001230161.1:p.Leu308PhefsTer9", "hgvsWellDefined": "NP_001230161.1:p.[Leu308_Ser310delinsPheThr;Gln312_Asp324delinsPhe;Ile326_Arg330delinsLysPro;His332_Ser337del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS018454" }, { "coordinates": [ { "allele": "T", "end": 1145, "referenceAllele": "", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243233.1:c.746dup" ], "proteinEffect": { "hgvs": "NP_001230162.1:p.Leu249PhefsTer9", "hgvsWellDefined": "NP_001230162.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS018455" }, { "coordinates": [ { "allele": "T", "end": 777, "referenceAllele": "", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243234.1:c.656dup" ], "proteinEffect": { "hgvs": "NP_001230163.1:p.Leu219PhefsTer9", "hgvsWellDefined": "NP_001230163.1:p.[Leu219_Ser221delinsPheThr;Gln223_Asp235delinsPhe;Ile237_Arg241delinsLysPro;His243_Ser248del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS018456" }, { "coordinates": [ { "allele": "T", "end": 777, "referenceAllele": "", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243235.1:c.656dup" ], "proteinEffect": { "hgvs": "NP_001230164.1:p.Leu219PhefsTer9", "hgvsWellDefined": "NP_001230164.1:p.[Leu219_Ser221delinsPheThr;Gln223_Asp235delinsPhe;Ile237_Arg241delinsLysPro;His243_Ser248del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS018457" }, { "coordinates": [ { "allele": "T", "end": 793, "referenceAllele": "", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243236.1:c.656dup" ], "proteinEffect": { "hgvs": "NP_001230165.1:p.Leu219PhefsTer9", "hgvsWellDefined": "NP_001230165.1:p.[Leu219_Ser221delinsPheThr;Gln223_Asp235delinsPhe;Ile237_Arg241delinsLysPro;His243_Ser248del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS018458" }, { "coordinates": [ { "allele": "T", "end": 1373, "referenceAllele": "", "start": 1373 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001306207.1:c.1064dup" ], "proteinEffect": { "hgvs": "NP_001293136.1:p.Leu355PhefsTer9", "hgvsWellDefined": "NP_001293136.1:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS026030" }, { "coordinates": [ { "allele": "T", "end": 1204, "referenceAllele": "", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001306208.1:c.923dup" ], "proteinEffect": { "hgvs": "NP_001293137.1:p.Leu308PhefsTer9", "hgvsWellDefined": "NP_001293137.1:p.[Leu308_Ser310delinsPheThr;Gln312_Asp324delinsPhe;Ile326_Arg330delinsLysPro;His332_Ser337del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS026031" }, { "coordinates": [ { "allele": "T", "end": 1748, "referenceAllele": "", "start": 1748 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_003199.2:c.1136dup" ], "proteinEffect": { "hgvs": "NP_003190.1:p.Leu379PhefsTer9", "hgvsWellDefined": "NP_003190.1:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS028464" }, { "coordinates": [ { "allele": "T", "end": 1388, "referenceAllele": "", "start": 1388 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266739.3:c.1064dup" ], "proteinEffect": { "hgvs": "XP_005266796.2:p.Leu355PhefsTer9", "hgvsWellDefined": "XP_005266796.2:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS065157" }, { "coordinates": [ { "allele": "T", "end": 1348, "referenceAllele": "", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266741.3:c.1133dup" ], "proteinEffect": { "hgvs": "XP_005266798.1:p.Leu378PhefsTer9", "hgvsWellDefined": "XP_005266798.1:p.[Leu378_Ser380delinsPheThr;Gln382_Asp394delinsPhe;Ile396_Arg400delinsLysPro;His402_Ser407del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS065158" }, { "coordinates": [ { "allele": "T", "end": 1206, "referenceAllele": "", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266743.3:c.1064dup" ], "proteinEffect": { "hgvs": "XP_005266800.1:p.Leu355PhefsTer9", "hgvsWellDefined": "XP_005266800.1:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS065159" }, { "coordinates": [ { "allele": "T", "end": 1329, "referenceAllele": "", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266744.3:c.1064dup" ], "proteinEffect": { "hgvs": "XP_005266801.1:p.Leu355PhefsTer9", "hgvsWellDefined": "XP_005266801.1:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS065160" }, { "coordinates": [ { "allele": "T", "end": 1191, "referenceAllele": "", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266745.3:c.1061dup" ], "proteinEffect": { "hgvs": "XP_005266802.1:p.Leu354PhefsTer9", "hgvsWellDefined": "XP_005266802.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS065161" }, { "coordinates": [ { "allele": "T", "end": 1185, "referenceAllele": "", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266747.3:c.1010dup" ], "proteinEffect": { "hgvs": "XP_005266804.1:p.Leu337PhefsTer9", "hgvsWellDefined": "XP_005266804.1:p.[Leu337_Ser339delinsPheThr;Gln341_Asp353delinsPhe;Ile355_Arg359delinsLysPro;His361_Ser366del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS065162" }, { "coordinates": [ { "allele": "T", "end": 976, "referenceAllele": "", "start": 976 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266749.3:c.926dup" ], "proteinEffect": { "hgvs": "XP_005266806.1:p.Leu309PhefsTer9", "hgvsWellDefined": "XP_005266806.1:p.[Leu309_Ser311delinsPheThr;Gln313_Asp325delinsPhe;Ile327_Arg331delinsLysPro;His333_Ser338del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS065163" }, { "coordinates": [ { "allele": "T", "end": 1140, "referenceAllele": "", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266752.3:c.746dup" ], "proteinEffect": { "hgvs": "XP_005266809.1:p.Leu249PhefsTer9", "hgvsWellDefined": "XP_005266809.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS065164" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266754.3:c.746dup" ], "proteinEffect": { "hgvs": "XP_005266811.1:p.Leu249PhefsTer9", "hgvsWellDefined": "XP_005266811.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS065165" }, { "coordinates": [ { "allele": "T", "end": 943, "referenceAllele": "", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266755.3:c.746dup" ], "proteinEffect": { "hgvs": "XP_005266812.1:p.Leu249PhefsTer9", "hgvsWellDefined": "XP_005266812.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS065166" }, { "coordinates": [ { "allele": "T", "end": 1286, "referenceAllele": "", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266761.3:c.653dup" ], "proteinEffect": { "hgvs": "XP_005266818.1:p.Leu218PhefsTer9", "hgvsWellDefined": "XP_005266818.1:p.[Leu218_Ser220delinsPheThr;Gln222_Asp234delinsPhe;Ile236_Arg240delinsLysPro;His242_Ser247del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS065167" }, { "coordinates": [ { "allele": "T", "end": 1671, "referenceAllele": "", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722536.2:c.1136dup" ], "proteinEffect": { "hgvs": "XP_006722599.1:p.Leu379PhefsTer9", "hgvsWellDefined": "XP_006722599.1:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS074600" }, { "coordinates": [ { "allele": "T", "end": 1304, "referenceAllele": "", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722537.2:c.1136dup" ], "proteinEffect": { "hgvs": "XP_006722600.1:p.Leu379PhefsTer9", "hgvsWellDefined": "XP_006722600.1:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS074601" }, { "coordinates": [ { "allele": "T", "end": 1326, "referenceAllele": "", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722538.2:c.1061dup" ], "proteinEffect": { "hgvs": "XP_006722601.1:p.Leu354PhefsTer9", "hgvsWellDefined": "XP_006722601.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS074602" }, { "coordinates": [ { "allele": "T", "end": 875, "referenceAllele": "", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722539.2:c.746dup" ], "proteinEffect": { "hgvs": "XP_006722602.1:p.Leu249PhefsTer9", "hgvsWellDefined": "XP_006722602.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS074603" }, { "coordinates": [ { "allele": "T", "end": 875, "referenceAllele": "", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722540.2:c.746dup" ], "proteinEffect": { "hgvs": "XP_006722603.1:p.Leu249PhefsTer9", "hgvsWellDefined": "XP_006722603.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS074604" }, { "coordinates": [ { "allele": "T", "end": 1499, "referenceAllele": "", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526154.1:c.1439dup" ], "proteinEffect": { "hgvs": "XP_011524456.1:p.Leu480PhefsTer9", "hgvsWellDefined": "XP_011524456.1:p.[Leu480_Ser482delinsPheThr;Gln484_Asp496delinsPhe;Ile498_Arg502delinsLysPro;His504_Ser509del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS093261" }, { "coordinates": [ { "allele": "T", "end": 1499, "referenceAllele": "", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526155.1:c.1439dup" ], "proteinEffect": { "hgvs": "XP_011524457.1:p.Leu480PhefsTer9", "hgvsWellDefined": "XP_011524457.1:p.[Leu480_Ser482delinsPheThr;Gln484_Asp496delinsPhe;Ile498_Arg502delinsLysPro;His504_Ser509del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS093262" }, { "coordinates": [ { "allele": "T", "end": 1502, "referenceAllele": "", "start": 1502 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526156.1:c.1442dup" ], "proteinEffect": { "hgvs": "XP_011524458.1:p.Leu481PhefsTer9", "hgvsWellDefined": "XP_011524458.1:p.[Leu481_Ser483delinsPheThr;Gln485_Asp497delinsPhe;Ile499_Arg503delinsLysPro;His505_Ser510del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS093263" }, { "coordinates": [ { "allele": "T", "end": 1499, "referenceAllele": "", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526157.1:c.1439dup" ], "proteinEffect": { "hgvs": "XP_011524459.1:p.Leu480PhefsTer9", "hgvsWellDefined": "XP_011524459.1:p.[Leu480_Ser482delinsPheThr;Gln484_Asp496delinsPhe;Ile498_Arg502delinsLysPro;His504_Ser509del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS093264" }, { "coordinates": [ { "allele": "T", "end": 1206, "referenceAllele": "", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526158.1:c.1130dup" ], "proteinEffect": { "hgvs": "XP_011524460.1:p.Leu377PhefsTer9", "hgvsWellDefined": "XP_011524460.1:p.[Leu377_Ser379delinsPheThr;Gln381_Asp393delinsPhe;Ile395_Arg399delinsLysPro;His401_Ser406del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS093265" }, { "coordinates": [ { "allele": "T", "end": 991, "referenceAllele": "", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526159.1:c.746dup" ], "proteinEffect": { "hgvs": "XP_011524461.1:p.Leu249PhefsTer9", "hgvsWellDefined": "XP_011524461.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS093266" }, { "coordinates": [ { "allele": "T", "end": 1287, "referenceAllele": "", "start": 1287 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526160.1:c.746dup" ], "proteinEffect": { "hgvs": "XP_011524462.1:p.Leu249PhefsTer9", "hgvsWellDefined": "XP_011524462.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS093267" }, { "coordinates": [ { "allele": "T", "end": 948, "referenceAllele": "", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526161.1:c.746dup" ], "proteinEffect": { "hgvs": "XP_011524463.1:p.Leu249PhefsTer9", "hgvsWellDefined": "XP_011524463.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS093268" }, { "coordinates": [ { "allele": "T", "end": 965, "referenceAllele": "", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526162.1:c.746dup" ], "proteinEffect": { "hgvs": "XP_011524464.1:p.Leu249PhefsTer9", "hgvsWellDefined": "XP_011524464.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS093269" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526163.1:c.746dup" ], "proteinEffect": { "hgvs": "XP_011524465.1:p.Leu249PhefsTer9", "hgvsWellDefined": "XP_011524465.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS093270" }, { "coordinates": [ { "allele": "T", "end": 948, "referenceAllele": "", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526164.1:c.746dup" ], "proteinEffect": { "hgvs": "XP_011524466.1:p.Leu249PhefsTer9", "hgvsWellDefined": "XP_011524466.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS093271" }, { "coordinates": [ { "allele": "T", "end": 1745, "referenceAllele": "", "start": 1745 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001330604.2:c.1133dup" ], "proteinEffect": { "hgvs": "NP_001317533.1:p.Leu378PhefsTer9", "hgvsWellDefined": "NP_001317533.1:p.[Leu378_Ser380delinsPheThr;Gln382_Asp394delinsPhe;Ile396_Arg400delinsLysPro;His402_Ser407del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS516949" }, { "coordinates": [ { "allele": "T", "end": 1165, "referenceAllele": "", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001330605.2:c.746dup" ], "proteinEffect": { "hgvs": "NP_001317534.1:p.Leu249PhefsTer9", "hgvsWellDefined": "NP_001317534.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS516950" }, { "coordinates": [ { "allele": "T", "end": 1182, "referenceAllele": "", "start": 1182 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348211.1:c.1010dup" ], "proteinEffect": { "hgvs": "NP_001335140.1:p.Leu337PhefsTer9", "hgvsWellDefined": "NP_001335140.1:p.[Leu337_Ser339delinsPheThr;Gln341_Asp353delinsPhe;Ile355_Arg359delinsLysPro;His361_Ser366del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS518066" }, { "coordinates": [ { "allele": "T", "end": 1130, "referenceAllele": "", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348212.1:c.746dup" ], "proteinEffect": { "hgvs": "NP_001335141.1:p.Leu249PhefsTer9", "hgvsWellDefined": "NP_001335141.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS518067" }, { "coordinates": [ { "allele": "T", "end": 1133, "referenceAllele": "", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348213.1:c.746dup" ], "proteinEffect": { "hgvs": "NP_001335142.1:p.Leu249PhefsTer9", "hgvsWellDefined": "NP_001335142.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS518068" }, { "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348214.1:c.653dup" ], "proteinEffect": { "hgvs": "NP_001335143.1:p.Leu218PhefsTer9", "hgvsWellDefined": "NP_001335143.1:p.[Leu218_Ser220delinsPheThr;Gln222_Asp234delinsPhe;Ile236_Arg240delinsLysPro;His242_Ser247del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS518069" }, { "coordinates": [ { "allele": "T", "end": 731, "referenceAllele": "", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348215.1:c.488dup" ], "proteinEffect": { "hgvs": "NP_001335144.1:p.Leu163PhefsTer9", "hgvsWellDefined": "NP_001335144.1:p.[Leu163_Ser165delinsPheThr;Gln167_Asp179delinsPhe;Ile181_Arg185delinsLysPro;His187_Ser192del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS518070" }, { "coordinates": [ { "allele": "T", "end": 798, "referenceAllele": "", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348216.1:c.656dup" ], "proteinEffect": { "hgvs": "NP_001335145.1:p.Leu219PhefsTer9", "hgvsWellDefined": "NP_001335145.1:p.[Leu219_Ser221delinsPheThr;Gln223_Asp235delinsPhe;Ile237_Arg241delinsLysPro;His243_Ser248del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS518071" }, { "coordinates": [ { "allele": "T", "end": 1373, "referenceAllele": "", "start": 1373 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348217.1:c.1064dup" ], "proteinEffect": { "hgvs": "NP_001335146.1:p.Leu355PhefsTer9", "hgvsWellDefined": "NP_001335146.1:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS518072" }, { "coordinates": [ { "allele": "T", "end": 1211, "referenceAllele": "", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348218.1:c.1064dup" ], "proteinEffect": { "hgvs": "NP_001335147.1:p.Leu355PhefsTer9", "hgvsWellDefined": "NP_001335147.1:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS518073" }, { "coordinates": [ { "allele": "T", "end": 1211, "referenceAllele": "", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348219.1:c.1064dup" ], "proteinEffect": { "hgvs": "NP_001335148.1:p.Leu355PhefsTer9", "hgvsWellDefined": "NP_001335148.1:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS518074" }, { "coordinates": [ { "allele": "T", "end": 1370, "referenceAllele": "", "start": 1370 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348220.1:c.1061dup" ], "proteinEffect": { "hgvs": "NP_001335149.1:p.Leu354PhefsTer9", "hgvsWellDefined": "NP_001335149.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS518075" }, { "coordinates": [ { "allele": "T", "end": 1388, "referenceAllele": "", "start": 1388 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266739.4:c.1064dup" ], "proteinEffect": { "hgvs": "XP_005266796.2:p.Leu355PhefsTer9", "hgvsWellDefined": "XP_005266796.2:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS536280" }, { "coordinates": [ { "allele": "T", "end": 1348, "referenceAllele": "", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266741.4:c.1133dup" ], "proteinEffect": { "hgvs": "XP_005266798.1:p.Leu378PhefsTer9", "hgvsWellDefined": "XP_005266798.1:p.[Leu378_Ser380delinsPheThr;Gln382_Asp394delinsPhe;Ile396_Arg400delinsLysPro;His402_Ser407del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS536281" }, { "coordinates": [ { "allele": "T", "end": 1192, "referenceAllele": "", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266745.4:c.1061dup" ], "proteinEffect": { "hgvs": "XP_005266802.1:p.Leu354PhefsTer9", "hgvsWellDefined": "XP_005266802.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS536282" }, { "coordinates": [ { "allele": "T", "end": 976, "referenceAllele": "", "start": 976 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266749.4:c.926dup" ], "proteinEffect": { "hgvs": "XP_005266806.1:p.Leu309PhefsTer9", "hgvsWellDefined": "XP_005266806.1:p.[Leu309_Ser311delinsPheThr;Gln313_Asp325delinsPhe;Ile327_Arg331delinsLysPro;His333_Ser338del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS536283" }, { "coordinates": [ { "allele": "T", "end": 1547, "referenceAllele": "", "start": 1547 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266752.5:c.746dup" ], "proteinEffect": { "hgvs": "XP_005266809.1:p.Leu249PhefsTer9", "hgvsWellDefined": "XP_005266809.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS536284" }, { "coordinates": [ { "allele": "T", "end": 1004, "referenceAllele": "", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266755.5:c.746dup" ], "proteinEffect": { "hgvs": "XP_005266812.1:p.Leu249PhefsTer9", "hgvsWellDefined": "XP_005266812.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS536285" }, { "coordinates": [ { "allele": "T", "end": 1334, "referenceAllele": "", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266761.4:c.653dup" ], "proteinEffect": { "hgvs": "XP_005266818.1:p.Leu218PhefsTer9", "hgvsWellDefined": "XP_005266818.1:p.[Leu218_Ser220delinsPheThr;Gln222_Asp234delinsPhe;Ile236_Arg240delinsLysPro;His242_Ser247del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS536286" }, { "coordinates": [ { "allele": "T", "end": 1665, "referenceAllele": "", "start": 1665 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722536.3:c.1136dup" ], "proteinEffect": { "hgvs": "XP_006722599.1:p.Leu379PhefsTer9", "hgvsWellDefined": "XP_006722599.1:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS540562" }, { "coordinates": [ { "allele": "T", "end": 1304, "referenceAllele": "", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722537.3:c.1136dup" ], "proteinEffect": { "hgvs": "XP_006722600.1:p.Leu379PhefsTer9", "hgvsWellDefined": "XP_006722600.1:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS540563" }, { "coordinates": [ { "allele": "T", "end": 1326, "referenceAllele": "", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722538.3:c.1061dup" ], "proteinEffect": { "hgvs": "XP_006722601.1:p.Leu354PhefsTer9", "hgvsWellDefined": "XP_006722601.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS540564" }, { "coordinates": [ { "allele": "T", "end": 1385, "referenceAllele": "", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025934.2:c.1061dup" ], "proteinEffect": { "hgvs": "XP_016881423.1:p.Leu354PhefsTer9", "hgvsWellDefined": "XP_016881423.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576166" }, { "coordinates": [ { "allele": "T", "end": 1385, "referenceAllele": "", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025935.2:c.1061dup" ], "proteinEffect": { "hgvs": "XP_016881424.1:p.Leu354PhefsTer9", "hgvsWellDefined": "XP_016881424.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576167" }, { "coordinates": [ { "allele": "T", "end": 1388, "referenceAllele": "", "start": 1388 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025936.2:c.1064dup" ], "proteinEffect": { "hgvs": "XP_016881425.1:p.Leu355PhefsTer9", "hgvsWellDefined": "XP_016881425.1:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576168" }, { "coordinates": [ { "allele": "T", "end": 1142, "referenceAllele": "", "start": 1142 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025937.2:c.1061dup" ], "proteinEffect": { "hgvs": "XP_016881426.1:p.Leu354PhefsTer9", "hgvsWellDefined": "XP_016881426.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576169" }, { "coordinates": [ { "allele": "T", "end": 1301, "referenceAllele": "", "start": 1301 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025938.2:c.1133dup" ], "proteinEffect": { "hgvs": "XP_016881427.1:p.Leu378PhefsTer9", "hgvsWellDefined": "XP_016881427.1:p.[Leu378_Ser380delinsPheThr;Gln382_Asp394delinsPhe;Ile396_Arg400delinsLysPro;His402_Ser407del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576170" }, { "coordinates": [ { "allele": "T", "end": 1665, "referenceAllele": "", "start": 1665 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025940.2:c.1136dup" ], "proteinEffect": { "hgvs": "XP_016881429.1:p.Leu379PhefsTer9", "hgvsWellDefined": "XP_016881429.1:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576171" }, { "coordinates": [ { "allele": "T", "end": 1304, "referenceAllele": "", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025941.2:c.1136dup" ], "proteinEffect": { "hgvs": "XP_016881430.1:p.Leu379PhefsTer9", "hgvsWellDefined": "XP_016881430.1:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576172" }, { "coordinates": [ { "allele": "T", "end": 1348, "referenceAllele": "", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025942.2:c.1133dup" ], "proteinEffect": { "hgvs": "XP_016881431.1:p.Leu378PhefsTer9", "hgvsWellDefined": "XP_016881431.1:p.[Leu378_Ser380delinsPheThr;Gln382_Asp394delinsPhe;Ile396_Arg400delinsLysPro;His402_Ser407del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576173" }, { "coordinates": [ { "allele": "T", "end": 1348, "referenceAllele": "", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025943.2:c.1133dup" ], "proteinEffect": { "hgvs": "XP_016881432.1:p.Leu378PhefsTer9", "hgvsWellDefined": "XP_016881432.1:p.[Leu378_Ser380delinsPheThr;Gln382_Asp394delinsPhe;Ile396_Arg400delinsLysPro;His402_Ser407del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576174" }, { "coordinates": [ { "allele": "T", "end": 1610, "referenceAllele": "", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025944.2:c.1061dup" ], "proteinEffect": { "hgvs": "XP_016881433.1:p.Leu354PhefsTer9", "hgvsWellDefined": "XP_016881433.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576175" }, { "coordinates": [ { "allele": "T", "end": 1610, "referenceAllele": "", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025945.2:c.1061dup" ], "proteinEffect": { "hgvs": "XP_016881434.1:p.Leu354PhefsTer9", "hgvsWellDefined": "XP_016881434.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576176" }, { "coordinates": [ { "allele": "T", "end": 1623, "referenceAllele": "", "start": 1623 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025946.2:c.1064dup" ], "proteinEffect": { "hgvs": "XP_016881435.1:p.Leu355PhefsTer9", "hgvsWellDefined": "XP_016881435.1:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576177" }, { "coordinates": [ { "allele": "T", "end": 1610, "referenceAllele": "", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025948.2:c.1061dup" ], "proteinEffect": { "hgvs": "XP_016881437.1:p.Leu354PhefsTer9", "hgvsWellDefined": "XP_016881437.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576178" }, { "coordinates": [ { "allele": "T", "end": 1607, "referenceAllele": "", "start": 1607 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025950.2:c.1058dup" ], "proteinEffect": { "hgvs": "XP_016881439.1:p.Leu353PhefsTer9", "hgvsWellDefined": "XP_016881439.1:p.[Leu353_Ser355delinsPheThr;Gln357_Asp369delinsPhe;Ile371_Arg375delinsLysPro;His377_Ser382del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576179" }, { "coordinates": [ { "allele": "T", "end": 1182, "referenceAllele": "", "start": 1182 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025951.2:c.1007dup" ], "proteinEffect": { "hgvs": "XP_016881440.1:p.Leu336PhefsTer9", "hgvsWellDefined": "XP_016881440.1:p.[Leu336_Ser338delinsPheThr;Gln340_Asp352delinsPhe;Ile354_Arg358delinsLysPro;His360_Ser365del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576180" }, { "coordinates": [ { "allele": "T", "end": 1196, "referenceAllele": "", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025952.2:c.920dup" ], "proteinEffect": { "hgvs": "XP_016881441.1:p.Leu307PhefsTer9", "hgvsWellDefined": "XP_016881441.1:p.[Leu307_Ser309delinsPheThr;Gln311_Asp323delinsPhe;Ile325_Arg329delinsLysPro;His331_Ser336del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576181" }, { "coordinates": [ { "allele": "T", "end": 976, "referenceAllele": "", "start": 976 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025953.2:c.926dup" ], "proteinEffect": { "hgvs": "XP_016881442.1:p.Leu309PhefsTer9", "hgvsWellDefined": "XP_016881442.1:p.[Leu309_Ser311delinsPheThr;Gln313_Asp325delinsPhe;Ile327_Arg331delinsLysPro;His333_Ser338del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576182" }, { "coordinates": [ { "allele": "T", "end": 1557, "referenceAllele": "", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025954.2:c.743dup" ], "proteinEffect": { "hgvs": "XP_016881443.1:p.Leu248PhefsTer9", "hgvsWellDefined": "XP_016881443.1:p.[Leu248_Ser250delinsPheThr;Gln252_Asp264delinsPhe;Ile266_Arg270delinsLysPro;His272_Ser277del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576183" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025956.2:c.746dup" ], "proteinEffect": { "hgvs": "XP_016881445.1:p.Leu249PhefsTer9", "hgvsWellDefined": "XP_016881445.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576184" }, { "coordinates": [ { "allele": "T", "end": 1203, "referenceAllele": "", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_024451240.1:c.1061dup" ], "proteinEffect": { "hgvs": "XP_024307008.1:p.Leu354PhefsTer9", "hgvsWellDefined": "XP_024307008.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS584759" }, { "coordinates": [ { "allele": "T", "end": 1002, "referenceAllele": "", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_024451241.1:c.899dup" ], "proteinEffect": { "hgvs": "XP_024307009.1:p.Leu300PhefsTer9", "hgvsWellDefined": "XP_024307009.1:p.[Leu300_Ser302delinsPheThr;Gln304_Asp316delinsPhe;Ile318_Arg322delinsLysPro;His324_Ser329del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS584760" }, { "coordinates": [ { "allele": "T", "end": 1311, "referenceAllele": "", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001083962.2:c.1136dup" ], "proteinEffect": { "hgvs": "NP_001077431.1:p.Leu379PhefsTer9", "hgvsWellDefined": "NP_001077431.1:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS676369", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354452.8:c.1136dup" }, "RefSeq": { "hgvs": "NM_001083962.2:c.1136dup" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346440.3:p.Leu379PhefsTer9" }, "RefSeq": { "hgvs": "NP_001077431.1:p.Leu379PhefsTer9" } } } }, { "coordinates": [ { "allele": "T", "end": 1502, "referenceAllele": "", "start": 1502 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243226.3:c.1442dup" ], "proteinEffect": { "hgvs": "NP_001230155.2:p.Leu481PhefsTer9", "hgvsWellDefined": "NP_001230155.2:p.[Leu481_Ser483delinsPheThr;Gln485_Asp497delinsPhe;Ile499_Arg503delinsLysPro;His505_Ser510del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS680199" }, { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "", "start": 1579 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243227.2:c.1064dup" ], "proteinEffect": { "hgvs": "NP_001230156.1:p.Leu355PhefsTer9", "hgvsWellDefined": "NP_001230156.1:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS680200" }, { "coordinates": [ { "allele": "T", "end": 1689, "referenceAllele": "", "start": 1689 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243228.2:c.1154dup" ], "proteinEffect": { "hgvs": "NP_001230157.1:p.Leu385PhefsTer9", "hgvsWellDefined": "NP_001230157.1:p.[Leu385_Ser387delinsPheThr;Gln389_Asp401delinsPhe;Ile403_Arg407delinsLysPro;His409_Ser414del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS680201" }, { "coordinates": [ { "allele": "T", "end": 1185, "referenceAllele": "", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243231.2:c.1010dup" ], "proteinEffect": { "hgvs": "NP_001230160.1:p.Leu337PhefsTer9", "hgvsWellDefined": "NP_001230160.1:p.[Leu337_Ser339delinsPheThr;Gln341_Asp353delinsPhe;Ile355_Arg359delinsLysPro;His361_Ser366del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS680202" }, { "coordinates": [ { "allele": "T", "end": 950, "referenceAllele": "", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243233.2:c.746dup" ], "proteinEffect": { "hgvs": "NP_001230162.1:p.Leu249PhefsTer9", "hgvsWellDefined": "NP_001230162.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS680203" }, { "coordinates": [ { "allele": "T", "end": 759, "referenceAllele": "", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243234.2:c.656dup" ], "proteinEffect": { "hgvs": "NP_001230163.1:p.Leu219PhefsTer9", "hgvsWellDefined": "NP_001230163.1:p.[Leu219_Ser221delinsPheThr;Gln223_Asp235delinsPhe;Ile237_Arg241delinsLysPro;His243_Ser248del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS680204" }, { "coordinates": [ { "allele": "T", "end": 759, "referenceAllele": "", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243235.2:c.656dup" ], "proteinEffect": { "hgvs": "NP_001230164.1:p.Leu219PhefsTer9", "hgvsWellDefined": "NP_001230164.1:p.[Leu219_Ser221delinsPheThr;Gln223_Asp235delinsPhe;Ile237_Arg241delinsLysPro;His243_Ser248del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS680205" }, { "coordinates": [ { "allele": "T", "end": 832, "referenceAllele": "", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243236.2:c.656dup" ], "proteinEffect": { "hgvs": "NP_001230165.1:p.Leu219PhefsTer9", "hgvsWellDefined": "NP_001230165.1:p.[Leu219_Ser221delinsPheThr;Gln223_Asp235delinsPhe;Ile237_Arg241delinsLysPro;His243_Ser248del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS680206" }, { "coordinates": [ { "allele": "T", "end": 1308, "referenceAllele": "", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001330604.3:c.1133dup" ], "proteinEffect": { "hgvs": "NP_001317533.1:p.Leu378PhefsTer9", "hgvsWellDefined": "NP_001317533.1:p.[Leu378_Ser380delinsPheThr;Gln382_Asp394delinsPhe;Ile396_Arg400delinsLysPro;His402_Ser407del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS687027" }, { "coordinates": [ { "allele": "T", "end": 876, "referenceAllele": "", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001330605.3:c.746dup" ], "proteinEffect": { "hgvs": "NP_001317534.1:p.Leu249PhefsTer9", "hgvsWellDefined": "NP_001317534.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS687028" }, { "coordinates": [ { "allele": "T", "end": 1185, "referenceAllele": "", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348211.2:c.1010dup" ], "proteinEffect": { "hgvs": "NP_001335140.1:p.Leu337PhefsTer9", "hgvsWellDefined": "NP_001335140.1:p.[Leu337_Ser339delinsPheThr;Gln341_Asp353delinsPhe;Ile355_Arg359delinsLysPro;His361_Ser366del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS687607" }, { "coordinates": [ { "allele": "T", "end": 935, "referenceAllele": "", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348212.2:c.746dup" ], "proteinEffect": { "hgvs": "NP_001335141.1:p.Leu249PhefsTer9", "hgvsWellDefined": "NP_001335141.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS687608" }, { "coordinates": [ { "allele": "T", "end": 938, "referenceAllele": "", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348213.2:c.746dup" ], "proteinEffect": { "hgvs": "NP_001335142.1:p.Leu249PhefsTer9", "hgvsWellDefined": "NP_001335142.1:p.[Leu249_Ser251delinsPheThr;Gln253_Asp265delinsPhe;Ile267_Arg271delinsLysPro;His273_Ser278del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS687609" }, { "coordinates": [ { "allele": "T", "end": 756, "referenceAllele": "", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348214.2:c.653dup" ], "proteinEffect": { "hgvs": "NP_001335143.1:p.Leu218PhefsTer9", "hgvsWellDefined": "NP_001335143.1:p.[Leu218_Ser220delinsPheThr;Gln222_Asp234delinsPhe;Ile236_Arg240delinsLysPro;His242_Ser247del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS687610" }, { "coordinates": [ { "allele": "T", "end": 692, "referenceAllele": "", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348215.2:c.488dup" ], "proteinEffect": { "hgvs": "NP_001335144.1:p.Leu163PhefsTer9", "hgvsWellDefined": "NP_001335144.1:p.[Leu163_Ser165delinsPheThr;Gln167_Asp179delinsPhe;Ile181_Arg185delinsLysPro;His187_Ser192del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS687611" }, { "coordinates": [ { "allele": "T", "end": 832, "referenceAllele": "", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348216.2:c.656dup" ], "proteinEffect": { "hgvs": "NP_001335145.1:p.Leu219PhefsTer9", "hgvsWellDefined": "NP_001335145.1:p.[Leu219_Ser221delinsPheThr;Gln223_Asp235delinsPhe;Ile237_Arg241delinsLysPro;His243_Ser248del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS687612" }, { "coordinates": [ { "allele": "T", "end": 1214, "referenceAllele": "", "start": 1214 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348218.2:c.1064dup" ], "proteinEffect": { "hgvs": "NP_001335147.1:p.Leu355PhefsTer9", "hgvsWellDefined": "NP_001335147.1:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS687613" }, { "coordinates": [ { "allele": "T", "end": 1214, "referenceAllele": "", "start": 1214 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348219.2:c.1064dup" ], "proteinEffect": { "hgvs": "NP_001335148.1:p.Leu355PhefsTer9", "hgvsWellDefined": "NP_001335148.1:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS687614" }, { "coordinates": [ { "allele": "T", "end": 1671, "referenceAllele": "", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369567.1:c.1136dup" ], "proteinEffect": { "hgvs": "NP_001356496.1:p.Leu379PhefsTer9", "hgvsWellDefined": "NP_001356496.1:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691778" }, { "coordinates": [ { "allele": "T", "end": 1304, "referenceAllele": "", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369568.1:c.1136dup" ], "proteinEffect": { "hgvs": "NP_001356497.1:p.Leu379PhefsTer9", "hgvsWellDefined": "NP_001356497.1:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691779" }, { "coordinates": [ { "allele": "T", "end": 1301, "referenceAllele": "", "start": 1301 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369569.1:c.1133dup" ], "proteinEffect": { "hgvs": "NP_001356498.1:p.Leu378PhefsTer9", "hgvsWellDefined": "NP_001356498.1:p.[Leu378_Ser380delinsPheThr;Gln382_Asp394delinsPhe;Ile396_Arg400delinsLysPro;His402_Ser407del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691780" }, { "coordinates": [ { "allele": "T", "end": 1308, "referenceAllele": "", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369570.1:c.1133dup" ], "proteinEffect": { "hgvs": "NP_001356499.1:p.Leu378PhefsTer9", "hgvsWellDefined": "NP_001356499.1:p.[Leu378_Ser380delinsPheThr;Gln382_Asp394delinsPhe;Ile396_Arg400delinsLysPro;His402_Ser407del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691781" }, { "coordinates": [ { "allele": "T", "end": 1671, "referenceAllele": "", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369571.1:c.1136dup" ], "proteinEffect": { "hgvs": "NP_001356500.1:p.Leu379PhefsTer9", "hgvsWellDefined": "NP_001356500.1:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691782" }, { "coordinates": [ { "allele": "T", "end": 1304, "referenceAllele": "", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369572.1:c.1136dup" ], "proteinEffect": { "hgvs": "NP_001356501.1:p.Leu379PhefsTer9", "hgvsWellDefined": "NP_001356501.1:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691783" }, { "coordinates": [ { "allele": "T", "end": 1308, "referenceAllele": "", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369573.1:c.1133dup" ], "proteinEffect": { "hgvs": "NP_001356502.1:p.Leu378PhefsTer9", "hgvsWellDefined": "NP_001356502.1:p.[Leu378_Ser380delinsPheThr;Gln382_Asp394delinsPhe;Ile396_Arg400delinsLysPro;His402_Ser407del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691784" }, { "coordinates": [ { "allele": "T", "end": 1308, "referenceAllele": "", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369574.1:c.1133dup" ], "proteinEffect": { "hgvs": "NP_001356503.1:p.Leu378PhefsTer9", "hgvsWellDefined": "NP_001356503.1:p.[Leu378_Ser380delinsPheThr;Gln382_Asp394delinsPhe;Ile396_Arg400delinsLysPro;His402_Ser407del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691785" }, { "coordinates": [ { "allele": "T", "end": 1219, "referenceAllele": "", "start": 1219 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369575.1:c.1064dup" ], "proteinEffect": { "hgvs": "NP_001356504.1:p.Leu355PhefsTer9", "hgvsWellDefined": "NP_001356504.1:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691786" }, { "coordinates": [ { "allele": "T", "end": 1576, "referenceAllele": "", "start": 1576 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369576.1:c.1061dup" ], "proteinEffect": { "hgvs": "NP_001356505.1:p.Leu354PhefsTer9", "hgvsWellDefined": "NP_001356505.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691787" }, { "coordinates": [ { "allele": "T", "end": 1576, "referenceAllele": "", "start": 1576 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369577.1:c.1061dup" ], "proteinEffect": { "hgvs": "NP_001356506.1:p.Leu354PhefsTer9", "hgvsWellDefined": "NP_001356506.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691788" }, { "coordinates": [ { "allele": "T", "end": 1216, "referenceAllele": "", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369578.1:c.1061dup" ], "proteinEffect": { "hgvs": "NP_001356507.1:p.Leu354PhefsTer9", "hgvsWellDefined": "NP_001356507.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691789" }, { "coordinates": [ { "allele": "T", "end": 1216, "referenceAllele": "", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369579.1:c.1061dup" ], "proteinEffect": { "hgvs": "NP_001356508.1:p.Leu354PhefsTer9", "hgvsWellDefined": "NP_001356508.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691790" }, { "coordinates": [ { "allele": "T", "end": 1211, "referenceAllele": "", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369580.1:c.1061dup" ], "proteinEffect": { "hgvs": "NP_001356509.1:p.Leu354PhefsTer9", "hgvsWellDefined": "NP_001356509.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691791" }, { "coordinates": [ { "allele": "T", "end": 1211, "referenceAllele": "", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369581.1:c.1061dup" ], "proteinEffect": { "hgvs": "NP_001356510.1:p.Leu354PhefsTer9", "hgvsWellDefined": "NP_001356510.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691792" }, { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "", "start": 1579 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369582.1:c.1064dup" ], "proteinEffect": { "hgvs": "NP_001356511.1:p.Leu355PhefsTer9", "hgvsWellDefined": "NP_001356511.1:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691793" }, { "coordinates": [ { "allele": "T", "end": 1219, "referenceAllele": "", "start": 1219 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369583.1:c.1064dup" ], "proteinEffect": { "hgvs": "NP_001356512.1:p.Leu355PhefsTer9", "hgvsWellDefined": "NP_001356512.1:p.[Leu355_Ser357delinsPheThr;Gln359_Asp371delinsPhe;Ile373_Arg377delinsLysPro;His379_Ser384del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691794" }, { "coordinates": [ { "allele": "T", "end": 1576, "referenceAllele": "", "start": 1576 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369584.1:c.1061dup" ], "proteinEffect": { "hgvs": "NP_001356513.1:p.Leu354PhefsTer9", "hgvsWellDefined": "NP_001356513.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691795" }, { "coordinates": [ { "allele": "T", "end": 1216, "referenceAllele": "", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369585.1:c.1061dup" ], "proteinEffect": { "hgvs": "NP_001356514.1:p.Leu354PhefsTer9", "hgvsWellDefined": "NP_001356514.1:p.[Leu354_Ser356delinsPheThr;Gln358_Asp370delinsPhe;Ile372_Arg376delinsLysPro;His378_Ser383del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691796" }, { "coordinates": [ { "allele": "T", "end": 1582, "referenceAllele": "", "start": 1582 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369586.1:c.1067dup" ], "proteinEffect": { "hgvs": "NP_001356515.1:p.Leu356PhefsTer9", "hgvsWellDefined": "NP_001356515.1:p.[Leu356_Ser358delinsPheThr;Gln360_Asp372delinsPhe;Ile374_Arg378delinsLysPro;His380_Ser385del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS691797" }, { "coordinates": [ { "allele": "T", "end": 1311, "referenceAllele": "", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_003199.3:c.1136dup" ], "proteinEffect": { "hgvs": "NP_003190.1:p.Leu379PhefsTer9", "hgvsWellDefined": "NP_003190.1:p.[Leu379_Ser381delinsPheThr;Gln383_Asp395delinsPhe;Ile397_Arg401delinsLysPro;His403_Ser408del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS695755" }, { "coordinates": [ { "allele": "T", "end": 1209, "referenceAllele": "", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243230.2:c.1127dup" ], "proteinEffect": { "hgvs": "NP_001230159.1:p.Leu376PhefsTer9", "hgvsWellDefined": "NP_001230159.1:p.[Leu376_Ser378delinsPheThr;Gln380_Asp392delinsPhe;Ile394_Arg398delinsLysPro;His400_Ser405del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS714455" } ], "type": "nucleotide" }