{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA913184800", "communityStandardTitle": [ "NM_002397.5(MEF2C):c.863del (p.Ala288ValfsTer11)" ], "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "", "end": 88729319, "referenceAllele": "G", "start": 88729318 } ], "hgvs": [ "NC_000005.10:g.88729319del", "CM000667.2:g.88729319del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "", "end": 88025136, "referenceAllele": "G", "start": 88025135 } ], "hgvs": [ "NC_000005.9:g.88025136del", "CM000667.1:g.88025136del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "", "end": 88060892, "referenceAllele": "G", "start": 88060891 } ], "hgvs": [ "NC_000005.8:g.88060892del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "", "end": 179787, "referenceAllele": "C", "start": 179786 } ], "hgvs": [ "NG_023427.1:g.179787del" ], "referenceSequence": "http://reg.genome.network/refseq/RS003860" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000707127.1:c.485del" ], "proteinEffect": { "hgvs": "ENSP00000516755.1:p.Ala162ValfsTer11", "hgvsWellDefined": "ENSP00000516755.1:p.[Ala162_Pro168del;Val170del;Val172_Thr176delinsHisTrp;Gly179del;Gly181_Tyr185delinsTrpPhe;Ser187_Thr191del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS913335" }, { "coordinates": [ { "allele": "", "end": 809, "referenceAllele": "C", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000503554.4:c.485del" ], "proteinEffect": { "hgvs": "ENSP00000487437.2:p.Ala162ValfsTer11", "hgvsWellDefined": "ENSP00000487437.2:p.[Ala162_Pro168del;Val170del;Val172_Thr176delinsHisTrp;Gly179del;Gly181_Tyr185delinsTrpPhe;Ser187_Thr191del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS757978" }, { "coordinates": [ { "allele": "", "end": 1235, "referenceAllele": "C", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000504921.7:c.863del" ], "proteinEffect": { "hgvs": "ENSP00000421925.5:p.Ala288ValfsTer11", "hgvsWellDefined": "ENSP00000421925.5:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS758035", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000504921.7:c.863del" }, "RefSeq": { "hgvs": "NM_002397.5:c.863del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000421925.5:p.Ala288ValfsTer11" }, "RefSeq": { "hgvs": "NP_002388.2:p.Ala288ValfsTer11" } } } }, { "coordinates": [ { "allele": "", "end": 800, "referenceAllele": "C", "start": 799 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000636143.1:n.800del" ], "referenceSequence": "http://reg.genome.network/refseq/RS762903" }, { "coordinates": [ { "allele": "", "end": 1060, "referenceAllele": "C", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000636294.1:c.863del" ], "proteinEffect": { "hgvs": "ENSP00000490473.1:p.Ala288ValfsTer11", "hgvsWellDefined": "ENSP00000490473.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS763016" }, { "coordinates": [ { "allele": "", "end": 1143, "referenceAllele": "C", "start": 1142 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000636998.1:c.863del" ], "proteinEffect": { "hgvs": "ENSP00000490630.1:p.Ala288ValfsTer11", "hgvsWellDefined": "ENSP00000490630.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS763534" }, { "coordinates": [ { "allele": "", "end": 1199, "referenceAllele": "C", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000637481.1:c.830del" ], "proteinEffect": { "hgvs": "ENSP00000490354.1:p.Ala277ValfsTer11", "hgvsWellDefined": "ENSP00000490354.1:p.[Ala277_Pro283del;Val285del;Val287_Thr291delinsHisTrp;Gly294del;Gly296_Tyr300delinsTrpPhe;Ser302_Thr306del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS763888" }, { "coordinates": [ { "allele": "", "end": 1136, "referenceAllele": "C", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000637732.1:c.863del" ], "proteinEffect": { "hgvs": "ENSP00000490241.1:p.Ala288ValfsTer11", "hgvsWellDefined": "ENSP00000490241.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS764071" }, { "coordinates": [ { "allele": "", "end": 1270, "referenceAllele": "C", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000340208.9:c.893del" ], "proteinEffect": { "hgvs": "ENSP00000340874.5:p.Ala298ValfsTer11", "hgvsWellDefined": "ENSP00000340874.5:p.[Ala298_Pro304del;Val306del;Val308_Thr312delinsHisTrp;Gly315del;Gly317_Tyr321delinsTrpPhe;Ser323_Thr327del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS261048" }, { "coordinates": [ { "allele": "", "end": 1414, "referenceAllele": "C", "start": 1413 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000424173.6:c.833del" ], "proteinEffect": { "hgvs": "ENSP00000389610.2:p.Ala278ValfsTer11", "hgvsWellDefined": "ENSP00000389610.2:p.[Ala278_Pro284del;Val286del;Val288_Thr292delinsHisTrp;Gly295del;Gly297_Tyr301delinsTrpPhe;Ser303_Thr307del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS288130" }, { "coordinates": [ { "allele": "", "end": 1514, "referenceAllele": "C", "start": 1513 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000437473.6:c.863del" ], "proteinEffect": { "hgvs": "ENSP00000396219.2:p.Ala288ValfsTer11", "hgvsWellDefined": "ENSP00000396219.2:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS294480" }, { "coordinates": [ { "allele": "", "end": 1515, "referenceAllele": "C", "start": 1514 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000504921.6:c.863del" ], "proteinEffect": { "hgvs": "ENSP00000421925.4:p.Ala288ValfsTer11", "hgvsWellDefined": "ENSP00000421925.4:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS336845" }, { "coordinates": [ { "allele": "", "end": 1223, "referenceAllele": "C", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000506554.5:c.863del" ], "proteinEffect": { "hgvs": "ENSP00000425636.1:p.Ala288ValfsTer11", "hgvsWellDefined": "ENSP00000425636.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS338066" }, { "coordinates": [ { "allele": "", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000508569.5:c.839del" ], "proteinEffect": { "hgvs": "ENSP00000423597.2:p.Ala280ValfsTer11", "hgvsWellDefined": "ENSP00000423597.2:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS339561" }, { "coordinates": [ { "allele": "", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000510942.5:c.839del" ], "proteinEffect": { "hgvs": "ENSP00000422390.2:p.Ala280ValfsTer11", "hgvsWellDefined": "ENSP00000422390.2:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS341320" }, { "coordinates": [ { "allele": "", "end": 201, "referenceAllele": "C", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000510980.1:n.201del" ], "referenceSequence": "http://reg.genome.network/refseq/RS341347" }, { "coordinates": [ { "allele": "", "end": 1275, "referenceAllele": "C", "start": 1274 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000514015.5:c.863del" ], "proteinEffect": { "hgvs": "ENSP00000424606.1:p.Ala288ValfsTer11", "hgvsWellDefined": "ENSP00000424606.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS343607" }, { "coordinates": [ { "allele": "", "end": 1151, "referenceAllele": "C", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000514028.5:c.863del" ], "proteinEffect": { "hgvs": "ENSP00000426665.2:p.Ala288ValfsTer11", "hgvsWellDefined": "ENSP00000426665.2:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS343619" }, { "coordinates": [ { "allele": "", "end": 1129, "referenceAllele": "C", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000625585.2:c.857del" ], "proteinEffect": { "hgvs": "ENSP00000487538.1:p.Ala286ValfsTer11", "hgvsWellDefined": "ENSP00000487538.1:p.[Ala286_Pro292del;Val294del;Val296_Thr300delinsHisTrp;Gly303del;Gly305_Tyr309delinsTrpPhe;Ser311_Thr315del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS406594" }, { "coordinates": [ { "allele": "", "end": 1206, "referenceAllele": "C", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000625674.2:c.833del" ], "proteinEffect": { "hgvs": "ENSP00000487430.1:p.Ala278ValfsTer11", "hgvsWellDefined": "ENSP00000487430.1:p.[Ala278_Pro284del;Val286del;Val288_Thr292delinsHisTrp;Gly295del;Gly297_Tyr301delinsTrpPhe;Ser303_Thr307del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS406607" }, { "coordinates": [ { "allele": "", "end": 719, "referenceAllele": "C", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000626391.2:c.719del" ], "proteinEffect": { "hgvs": "ENSP00000487184.1:p.Ala240ValfsTer11", "hgvsWellDefined": "ENSP00000487184.1:p.[Ala240_Pro246del;Val248del;Val250_Thr254delinsHisTrp;Gly257del;Gly259_Tyr263delinsTrpPhe;Ser265_Thr269del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS406731" }, { "coordinates": [ { "allele": "", "end": 152, "referenceAllele": "C", "start": 151 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000627170.2:c.152del" ], "proteinEffect": { "hgvs": "ENSP00000487157.1:p.Ala51ValfsTer11", "hgvsWellDefined": "ENSP00000487157.1:p.[Ala51_Pro57del;Val59del;Val61_Thr65delinsHisTrp;Gly68del;Gly70_Tyr74delinsTrpPhe;Ser76_Thr80del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS406848" }, { "coordinates": [ { "allele": "", "end": 1251, "referenceAllele": "C", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000627659.2:c.833del" ], "proteinEffect": { "hgvs": "ENSP00000486490.1:p.Ala278ValfsTer11", "hgvsWellDefined": "ENSP00000486490.1:p.[Ala278_Pro284del;Val286del;Val288_Thr292delinsHisTrp;Gly295del;Gly297_Tyr301delinsTrpPhe;Ser303_Thr307del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS406932" }, { "coordinates": [ { "allele": "", "end": 248, "referenceAllele": "C", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000627717.2:c.248del" ], "proteinEffect": { "hgvs": "ENSP00000486932.1:p.Ala83ValfsTer11", "hgvsWellDefined": "ENSP00000486932.1:p.[Ala83_Pro89del;Val91del;Val93_Thr97delinsHisTrp;Gly100del;Gly102_Tyr106delinsTrpPhe;Ser108_Thr112del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS406942" }, { "coordinates": [ { "allele": "", "end": 695, "referenceAllele": "C", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000628656.2:c.695del" ], "proteinEffect": { "hgvs": "ENSP00000487311.1:p.Ala232ValfsTer11", "hgvsWellDefined": "ENSP00000487311.1:p.[Ala232_Pro238del;Val240del;Val242_Thr246delinsHisTrp;Gly249del;Gly251_Tyr255delinsTrpPhe;Ser257_Thr261del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS407088" }, { "coordinates": [ { "allele": "", "end": 1265, "referenceAllele": "C", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000629612.2:c.839del" ], "proteinEffect": { "hgvs": "ENSP00000486554.1:p.Ala280ValfsTer11", "hgvsWellDefined": "ENSP00000486554.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS407248" }, { "coordinates": [ { "allele": "", "end": 1262, "referenceAllele": "C", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001131005.2:c.833del" ], "proteinEffect": { "hgvs": "NP_001124477.1:p.Ala278ValfsTer11", "hgvsWellDefined": "NP_001124477.1:p.[Ala278_Pro284del;Val286del;Val288_Thr292delinsHisTrp;Gly295del;Gly297_Tyr301delinsTrpPhe;Ser303_Thr307del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS012163" }, { "coordinates": [ { "allele": "", "end": 1322, "referenceAllele": "C", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001193347.1:c.893del" ], "proteinEffect": { "hgvs": "NP_001180276.1:p.Ala298ValfsTer11", "hgvsWellDefined": "NP_001180276.1:p.[Ala298_Pro304del;Val306del;Val308_Thr312delinsHisTrp;Gly315del;Gly317_Tyr321delinsTrpPhe;Ser323_Thr327del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS016364" }, { "coordinates": [ { "allele": "", "end": 834, "referenceAllele": "C", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001193348.1:c.695del" ], "proteinEffect": { "hgvs": "NP_001180277.1:p.Ala232ValfsTer11", "hgvsWellDefined": "NP_001180277.1:p.[Ala232_Pro238del;Val240del;Val242_Thr246delinsHisTrp;Gly249del;Gly251_Tyr255delinsTrpPhe;Ser257_Thr261del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS016365" }, { "coordinates": [ { "allele": "", "end": 858, "referenceAllele": "C", "start": 857 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001193349.1:c.719del" ], "proteinEffect": { "hgvs": "NP_001180278.1:p.Ala240ValfsTer11", "hgvsWellDefined": "NP_001180278.1:p.[Ala240_Pro246del;Val248del;Val250_Thr254delinsHisTrp;Gly257del;Gly259_Tyr263delinsTrpPhe;Ser265_Thr269del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS016366" }, { "coordinates": [ { "allele": "", "end": 1514, "referenceAllele": "C", "start": 1513 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001193350.1:c.863del" ], "proteinEffect": { "hgvs": "NP_001180279.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001180279.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS016367" }, { "coordinates": [ { "allele": "", "end": 978, "referenceAllele": "C", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001308002.1:c.839del" ], "proteinEffect": { "hgvs": "NP_001294931.1:p.Ala280ValfsTer11", "hgvsWellDefined": "NP_001294931.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS026076" }, { "coordinates": [ { "allele": "", "end": 1517, "referenceAllele": "C", "start": 1516 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_002397.4:c.863del" ], "proteinEffect": { "hgvs": "NP_002388.2:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_002388.2:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS027703" }, { "coordinates": [ { "allele": "", "end": 1051, "referenceAllele": "C", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_005248511.1:c.863del" ], "proteinEffect": { "hgvs": "XP_005248568.1:p.Ala288ValfsTer11", "hgvsWellDefined": "XP_005248568.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS058470" }, { "coordinates": [ { "allele": "", "end": 1266, "referenceAllele": "C", "start": 1265 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_006714618.1:c.863del" ], "proteinEffect": { "hgvs": "XP_006714681.1:p.Ala288ValfsTer11", "hgvsWellDefined": "XP_006714681.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS070748" }, { "coordinates": [ { "allele": "", "end": 1373, "referenceAllele": "C", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_006714619.1:c.863del" ], "proteinEffect": { "hgvs": "XP_006714682.1:p.Ala288ValfsTer11", "hgvsWellDefined": "XP_006714682.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS070749" }, { "coordinates": [ { "allele": "", "end": 1296, "referenceAllele": "C", "start": 1295 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_006714625.2:c.893del" ], "proteinEffect": { "hgvs": "XP_006714688.1:p.Ala298ValfsTer11", "hgvsWellDefined": "XP_006714688.1:p.[Ala298_Pro304del;Val306del;Val308_Thr312delinsHisTrp;Gly315del;Gly317_Tyr321delinsTrpPhe;Ser323_Thr327del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS070750" }, { "coordinates": [ { "allele": "", "end": 1102, "referenceAllele": "C", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543396.1:c.863del" ], "proteinEffect": { "hgvs": "XP_011541698.1:p.Ala288ValfsTer11", "hgvsWellDefined": "XP_011541698.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS110320" }, { "coordinates": [ { "allele": "", "end": 1283, "referenceAllele": "C", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543397.1:c.857del" ], "proteinEffect": { "hgvs": "XP_011541699.1:p.Ala286ValfsTer11", "hgvsWellDefined": "XP_011541699.1:p.[Ala286_Pro292del;Val294del;Val296_Thr300delinsHisTrp;Gly303del;Gly305_Tyr309delinsTrpPhe;Ser311_Thr315del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS110321" }, { "coordinates": [ { "allele": "", "end": 1259, "referenceAllele": "C", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543399.1:c.833del" ], "proteinEffect": { "hgvs": "XP_011541701.1:p.Ala278ValfsTer11", "hgvsWellDefined": "XP_011541701.1:p.[Ala278_Pro284del;Val286del;Val288_Thr292delinsHisTrp;Gly295del;Gly297_Tyr301delinsTrpPhe;Ser303_Thr307del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS110322" }, { "coordinates": [ { "allele": "", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543400.1:c.863del" ], "proteinEffect": { "hgvs": "XP_011541702.1:p.Ala288ValfsTer11", "hgvsWellDefined": "XP_011541702.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS110323" }, { "coordinates": [ { "allele": "", "end": 1265, "referenceAllele": "C", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543401.1:c.839del" ], "proteinEffect": { "hgvs": "XP_011541703.1:p.Ala280ValfsTer11", "hgvsWellDefined": "XP_011541703.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS110324" }, { "coordinates": [ { "allele": "", "end": 1259, "referenceAllele": "C", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543402.1:c.833del" ], "proteinEffect": { "hgvs": "XP_011541704.1:p.Ala278ValfsTer11", "hgvsWellDefined": "XP_011541704.1:p.[Ala278_Pro284del;Val286del;Val288_Thr292delinsHisTrp;Gly295del;Gly297_Tyr301delinsTrpPhe;Ser303_Thr307del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS110325" }, { "coordinates": [ { "allele": "", "end": 1145, "referenceAllele": "C", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543403.1:c.719del" ], "proteinEffect": { "hgvs": "XP_011541705.1:p.Ala240ValfsTer11", "hgvsWellDefined": "XP_011541705.1:p.[Ala240_Pro246del;Val248del;Val250_Thr254delinsHisTrp;Gly257del;Gly259_Tyr263delinsTrpPhe;Ser265_Thr269del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS110326" }, { "coordinates": [ { "allele": "", "end": 1121, "referenceAllele": "C", "start": 1120 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543404.1:c.695del" ], "proteinEffect": { "hgvs": "XP_011541706.1:p.Ala232ValfsTer11", "hgvsWellDefined": "XP_011541706.1:p.[Ala232_Pro238del;Val240del;Val242_Thr246delinsHisTrp;Gly249del;Gly251_Tyr255delinsTrpPhe;Ser257_Thr261del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS110327" }, { "coordinates": [ { "allele": "", "end": 1145, "referenceAllele": "C", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543405.1:c.719del" ], "proteinEffect": { "hgvs": "XP_011541707.1:p.Ala240ValfsTer11", "hgvsWellDefined": "XP_011541707.1:p.[Ala240_Pro246del;Val248del;Val250_Thr254delinsHisTrp;Gly257del;Gly259_Tyr263delinsTrpPhe;Ser265_Thr269del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS110328" }, { "coordinates": [ { "allele": "", "end": 1091, "referenceAllele": "C", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001193349.2:c.719del" ], "proteinEffect": { "hgvs": "NP_001180278.1:p.Ala240ValfsTer11", "hgvsWellDefined": "NP_001180278.1:p.[Ala240_Pro246del;Val248del;Val250_Thr254delinsHisTrp;Gly257del;Gly259_Tyr263delinsTrpPhe;Ser265_Thr269del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS511781" }, { "coordinates": [ { "allele": "", "end": 1211, "referenceAllele": "C", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001308002.2:c.839del" ], "proteinEffect": { "hgvs": "NP_001294931.1:p.Ala280ValfsTer11", "hgvsWellDefined": "NP_001294931.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS512367" }, { "coordinates": [ { "allele": "", "end": 1036, "referenceAllele": "C", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001363581.1:c.863del" ], "proteinEffect": { "hgvs": "NP_001350510.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001350510.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523401" }, { "coordinates": [ { "allele": "", "end": 1424, "referenceAllele": "C", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364329.1:c.863del" ], "proteinEffect": { "hgvs": "NP_001351258.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351258.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523802" }, { "coordinates": [ { "allele": "", "end": 1427, "referenceAllele": "C", "start": 1426 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364330.1:c.863del" ], "proteinEffect": { "hgvs": "NP_001351259.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351259.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523803" }, { "coordinates": [ { "allele": "", "end": 1331, "referenceAllele": "C", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364331.1:c.863del" ], "proteinEffect": { "hgvs": "NP_001351260.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351260.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523804" }, { "coordinates": [ { "allele": "", "end": 1088, "referenceAllele": "C", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364332.1:c.719del" ], "proteinEffect": { "hgvs": "NP_001351261.1:p.Ala240ValfsTer11", "hgvsWellDefined": "NP_001351261.1:p.[Ala240_Pro246del;Val248del;Val250_Thr254delinsHisTrp;Gly257del;Gly259_Tyr263delinsTrpPhe;Ser265_Thr269del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523805" }, { "coordinates": [ { "allele": "", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364333.1:c.839del" ], "proteinEffect": { "hgvs": "NP_001351262.1:p.Ala280ValfsTer11", "hgvsWellDefined": "NP_001351262.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523806" }, { "coordinates": [ { "allele": "", "end": 1424, "referenceAllele": "C", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364334.1:c.863del" ], "proteinEffect": { "hgvs": "NP_001351263.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351263.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523807" }, { "coordinates": [ { "allele": "", "end": 1053, "referenceAllele": "C", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364335.1:c.863del" ], "proteinEffect": { "hgvs": "NP_001351264.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351264.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523808" }, { "coordinates": [ { "allele": "", "end": 1235, "referenceAllele": "C", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364336.1:c.863del" ], "proteinEffect": { "hgvs": "NP_001351265.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351265.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523809" }, { "coordinates": [ { "allele": "", "end": 1232, "referenceAllele": "C", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364337.1:c.863del" ], "proteinEffect": { "hgvs": "NP_001351266.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351266.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523810" }, { "coordinates": [ { "allele": "", "end": 1262, "referenceAllele": "C", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364338.1:c.893del" ], "proteinEffect": { "hgvs": "NP_001351267.1:p.Ala298ValfsTer11", "hgvsWellDefined": "NP_001351267.1:p.[Ala298_Pro304del;Val306del;Val308_Thr312delinsHisTrp;Gly315del;Gly317_Tyr321delinsTrpPhe;Ser323_Thr327del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523811" }, { "coordinates": [ { "allele": "", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364339.1:c.839del" ], "proteinEffect": { "hgvs": "NP_001351268.1:p.Ala280ValfsTer11", "hgvsWellDefined": "NP_001351268.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523812" }, { "coordinates": [ { "allele": "", "end": 1211, "referenceAllele": "C", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364340.1:c.839del" ], "proteinEffect": { "hgvs": "NP_001351269.1:p.Ala280ValfsTer11", "hgvsWellDefined": "NP_001351269.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523813" }, { "coordinates": [ { "allele": "", "end": 1134, "referenceAllele": "C", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364341.1:c.839del" ], "proteinEffect": { "hgvs": "NP_001351270.1:p.Ala280ValfsTer11", "hgvsWellDefined": "NP_001351270.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523814" }, { "coordinates": [ { "allele": "", "end": 1131, "referenceAllele": "C", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364342.1:c.839del" ], "proteinEffect": { "hgvs": "NP_001351271.1:p.Ala280ValfsTer11", "hgvsWellDefined": "NP_001351271.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523815" }, { "coordinates": [ { "allele": "", "end": 1202, "referenceAllele": "C", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364343.1:c.833del" ], "proteinEffect": { "hgvs": "NP_001351272.1:p.Ala278ValfsTer11", "hgvsWellDefined": "NP_001351272.1:p.[Ala278_Pro284del;Val286del;Val288_Thr292delinsHisTrp;Gly295del;Gly297_Tyr301delinsTrpPhe;Ser303_Thr307del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523816" }, { "coordinates": [ { "allele": "", "end": 1091, "referenceAllele": "C", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364344.1:c.719del" ], "proteinEffect": { "hgvs": "NP_001351273.1:p.Ala240ValfsTer11", "hgvsWellDefined": "NP_001351273.1:p.[Ala240_Pro246del;Val248del;Val250_Thr254delinsHisTrp;Gly257del;Gly259_Tyr263delinsTrpPhe;Ser265_Thr269del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523817" }, { "coordinates": [ { "allele": "", "end": 1053, "referenceAllele": "C", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364345.1:c.863del" ], "proteinEffect": { "hgvs": "NP_001351274.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351274.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523818" }, { "coordinates": [ { "allele": "", "end": 1235, "referenceAllele": "C", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364346.1:c.863del" ], "proteinEffect": { "hgvs": "NP_001351275.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351275.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523819" }, { "coordinates": [ { "allele": "", "end": 1232, "referenceAllele": "C", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364347.1:c.863del" ], "proteinEffect": { "hgvs": "NP_001351276.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351276.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523820" }, { "coordinates": [ { "allele": "", "end": 1211, "referenceAllele": "C", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364348.1:c.839del" ], "proteinEffect": { "hgvs": "NP_001351277.1:p.Ala280ValfsTer11", "hgvsWellDefined": "NP_001351277.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523821" }, { "coordinates": [ { "allele": "", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364349.1:c.839del" ], "proteinEffect": { "hgvs": "NP_001351278.1:p.Ala280ValfsTer11", "hgvsWellDefined": "NP_001351278.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523822" }, { "coordinates": [ { "allele": "", "end": 1323, "referenceAllele": "C", "start": 1322 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364350.1:c.839del" ], "proteinEffect": { "hgvs": "NP_001351279.1:p.Ala280ValfsTer11", "hgvsWellDefined": "NP_001351279.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523823" }, { "coordinates": [ { "allele": "", "end": 1202, "referenceAllele": "C", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364352.1:c.833del" ], "proteinEffect": { "hgvs": "NP_001351281.1:p.Ala278ValfsTer11", "hgvsWellDefined": "NP_001351281.1:p.[Ala278_Pro284del;Val286del;Val288_Thr292delinsHisTrp;Gly295del;Gly297_Tyr301delinsTrpPhe;Ser303_Thr307del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523824" }, { "coordinates": [ { "allele": "", "end": 778, "referenceAllele": "C", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364353.1:c.485del" ], "proteinEffect": { "hgvs": "NP_001351282.1:p.Ala162ValfsTer11", "hgvsWellDefined": "NP_001351282.1:p.[Ala162_Pro168del;Val170del;Val172_Thr176delinsHisTrp;Gly179del;Gly181_Tyr185delinsTrpPhe;Ser187_Thr191del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523825" }, { "coordinates": [ { "allele": "", "end": 1088, "referenceAllele": "C", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364354.1:c.719del" ], "proteinEffect": { "hgvs": "NP_001351283.1:p.Ala240ValfsTer11", "hgvsWellDefined": "NP_001351283.1:p.[Ala240_Pro246del;Val248del;Val250_Thr254delinsHisTrp;Gly257del;Gly259_Tyr263delinsTrpPhe;Ser265_Thr269del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523826" }, { "coordinates": [ { "allele": "", "end": 1091, "referenceAllele": "C", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364355.1:c.719del" ], "proteinEffect": { "hgvs": "NP_001351284.1:p.Ala240ValfsTer11", "hgvsWellDefined": "NP_001351284.1:p.[Ala240_Pro246del;Val248del;Val250_Thr254delinsHisTrp;Gly257del;Gly259_Tyr263delinsTrpPhe;Ser265_Thr269del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523827" }, { "coordinates": [ { "allele": "", "end": 778, "referenceAllele": "C", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364356.1:c.485del" ], "proteinEffect": { "hgvs": "NP_001351285.1:p.Ala162ValfsTer11", "hgvsWellDefined": "NP_001351285.1:p.[Ala162_Pro168del;Val170del;Val172_Thr176delinsHisTrp;Gly179del;Gly181_Tyr185delinsTrpPhe;Ser187_Thr191del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523828" }, { "coordinates": [ { "allele": "", "end": 610, "referenceAllele": "C", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364357.1:c.413del" ], "proteinEffect": { "hgvs": "NP_001351286.1:p.Ala138ValfsTer11", "hgvsWellDefined": "NP_001351286.1:p.[Ala138_Pro144del;Val146del;Val148_Thr152delinsHisTrp;Gly155del;Gly157_Tyr161delinsTrpPhe;Ser163_Thr167del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523829" }, { "coordinates": [ { "allele": "", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_005248511.3:c.863del" ], "proteinEffect": { "hgvs": "XP_005248568.1:p.Ala288ValfsTer11", "hgvsWellDefined": "XP_005248568.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS533089" }, { "coordinates": [ { "allele": "", "end": 1294, "referenceAllele": "C", "start": 1293 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_006714625.4:c.893del" ], "proteinEffect": { "hgvs": "XP_006714688.1:p.Ala298ValfsTer11", "hgvsWellDefined": "XP_006714688.1:p.[Ala298_Pro304del;Val306del;Val308_Thr312delinsHisTrp;Gly315del;Gly317_Tyr321delinsTrpPhe;Ser323_Thr327del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS538758" }, { "coordinates": [ { "allele": "", "end": 1243, "referenceAllele": "C", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543396.3:c.863del" ], "proteinEffect": { "hgvs": "XP_011541698.1:p.Ala288ValfsTer11", "hgvsWellDefined": "XP_011541698.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS555212" }, { "coordinates": [ { "allele": "", "end": 1283, "referenceAllele": "C", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543397.3:c.857del" ], "proteinEffect": { "hgvs": "XP_011541699.1:p.Ala286ValfsTer11", "hgvsWellDefined": "XP_011541699.1:p.[Ala286_Pro292del;Val294del;Val296_Thr300delinsHisTrp;Gly303del;Gly305_Tyr309delinsTrpPhe;Ser311_Thr315del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS555213" }, { "coordinates": [ { "allele": "", "end": 1258, "referenceAllele": "C", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_017009475.2:c.857del" ], "proteinEffect": { "hgvs": "XP_016864964.1:p.Ala286ValfsTer11", "hgvsWellDefined": "XP_016864964.1:p.[Ala286_Pro292del;Val294del;Val296_Thr300delinsHisTrp;Gly303del;Gly305_Tyr309delinsTrpPhe;Ser311_Thr315del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS563790" }, { "coordinates": [ { "allele": "", "end": 1234, "referenceAllele": "C", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_017009478.2:c.833del" ], "proteinEffect": { "hgvs": "XP_016864967.1:p.Ala278ValfsTer11", "hgvsWellDefined": "XP_016864967.1:p.[Ala278_Pro284del;Val286del;Val288_Thr292delinsHisTrp;Gly295del;Gly297_Tyr301delinsTrpPhe;Ser303_Thr307del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS563791" }, { "coordinates": [ { "allele": "", "end": 1150, "referenceAllele": "C", "start": 1149 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_024446055.1:c.863del" ], "proteinEffect": { "hgvs": "XP_024301823.1:p.Ala288ValfsTer11", "hgvsWellDefined": "XP_024301823.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS579742" }, { "coordinates": [ { "allele": "", "end": 1030, "referenceAllele": "C", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_024446056.1:c.863del" ], "proteinEffect": { "hgvs": "XP_024301824.1:p.Ala288ValfsTer11", "hgvsWellDefined": "XP_024301824.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS579743" }, { "coordinates": [ { "allele": "", "end": 1624, "referenceAllele": "C", "start": 1623 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_024446057.1:c.857del" ], "proteinEffect": { "hgvs": "XP_024301825.1:p.Ala286ValfsTer11", "hgvsWellDefined": "XP_024301825.1:p.[Ala286_Pro292del;Val294del;Val296_Thr300delinsHisTrp;Gly303del;Gly305_Tyr309delinsTrpPhe;Ser311_Thr315del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS579744" }, { "coordinates": [ { "allele": "", "end": 1131, "referenceAllele": "C", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_024446058.1:c.857del" ], "proteinEffect": { "hgvs": "XP_024301826.1:p.Ala286ValfsTer11", "hgvsWellDefined": "XP_024301826.1:p.[Ala286_Pro292del;Val294del;Val296_Thr300delinsHisTrp;Gly303del;Gly305_Tyr309delinsTrpPhe;Ser311_Thr315del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS579745" }, { "coordinates": [ { "allele": "", "end": 1025, "referenceAllele": "C", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_024446059.1:c.857del" ], "proteinEffect": { "hgvs": "XP_024301827.1:p.Ala286ValfsTer11", "hgvsWellDefined": "XP_024301827.1:p.[Ala286_Pro292del;Val294del;Val296_Thr300delinsHisTrp;Gly303del;Gly305_Tyr309delinsTrpPhe;Ser311_Thr315del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS579746" }, { "coordinates": [ { "allele": "", "end": 1232, "referenceAllele": "C", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001193350.2:c.863del" ], "proteinEffect": { "hgvs": "NP_001180279.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001180279.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS679204" }, { "coordinates": [ { "allele": "", "end": 1211, "referenceAllele": "C", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001308002.3:c.839del" ], "proteinEffect": { "hgvs": "NP_001294931.1:p.Ala280ValfsTer11", "hgvsWellDefined": "NP_001294931.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS683897" }, { "coordinates": [ { "allele": "", "end": 1424, "referenceAllele": "C", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364329.2:c.863del" ], "proteinEffect": { "hgvs": "NP_001351258.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351258.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690869" }, { "coordinates": [ { "allele": "", "end": 1427, "referenceAllele": "C", "start": 1426 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364330.2:c.863del" ], "proteinEffect": { "hgvs": "NP_001351259.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351259.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690870" }, { "coordinates": [ { "allele": "", "end": 1331, "referenceAllele": "C", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364331.2:c.863del" ], "proteinEffect": { "hgvs": "NP_001351260.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351260.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690871" }, { "coordinates": [ { "allele": "", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364333.2:c.839del" ], "proteinEffect": { "hgvs": "NP_001351262.1:p.Ala280ValfsTer11", "hgvsWellDefined": "NP_001351262.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690872" }, { "coordinates": [ { "allele": "", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364339.2:c.839del" ], "proteinEffect": { "hgvs": "NP_001351268.1:p.Ala280ValfsTer11", "hgvsWellDefined": "NP_001351268.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690873" }, { "coordinates": [ { "allele": "", "end": 1091, "referenceAllele": "C", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364344.2:c.719del" ], "proteinEffect": { "hgvs": "NP_001351273.1:p.Ala240ValfsTer11", "hgvsWellDefined": "NP_001351273.1:p.[Ala240_Pro246del;Val248del;Val250_Thr254delinsHisTrp;Gly257del;Gly259_Tyr263delinsTrpPhe;Ser265_Thr269del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690874" }, { "coordinates": [ { "allele": "", "end": 1053, "referenceAllele": "C", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364345.2:c.863del" ], "proteinEffect": { "hgvs": "NP_001351274.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351274.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690875" }, { "coordinates": [ { "allele": "", "end": 1235, "referenceAllele": "C", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364346.2:c.863del" ], "proteinEffect": { "hgvs": "NP_001351275.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351275.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690876" }, { "coordinates": [ { "allele": "", "end": 1232, "referenceAllele": "C", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364347.2:c.863del" ], "proteinEffect": { "hgvs": "NP_001351276.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351276.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690877" }, { "coordinates": [ { "allele": "", "end": 1211, "referenceAllele": "C", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364348.2:c.839del" ], "proteinEffect": { "hgvs": "NP_001351277.1:p.Ala280ValfsTer11", "hgvsWellDefined": "NP_001351277.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690878" }, { "coordinates": [ { "allele": "", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364349.2:c.839del" ], "proteinEffect": { "hgvs": "NP_001351278.1:p.Ala280ValfsTer11", "hgvsWellDefined": "NP_001351278.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690879" }, { "coordinates": [ { "allele": "", "end": 1202, "referenceAllele": "C", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364352.2:c.833del" ], "proteinEffect": { "hgvs": "NP_001351281.1:p.Ala278ValfsTer11", "hgvsWellDefined": "NP_001351281.1:p.[Ala278_Pro284del;Val286del;Val288_Thr292delinsHisTrp;Gly295del;Gly297_Tyr301delinsTrpPhe;Ser303_Thr307del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690880" }, { "coordinates": [ { "allele": "", "end": 778, "referenceAllele": "C", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364353.2:c.485del" ], "proteinEffect": { "hgvs": "NP_001351282.1:p.Ala162ValfsTer11", "hgvsWellDefined": "NP_001351282.1:p.[Ala162_Pro168del;Val170del;Val172_Thr176delinsHisTrp;Gly179del;Gly181_Tyr185delinsTrpPhe;Ser187_Thr191del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690881" }, { "coordinates": [ { "allele": "", "end": 1088, "referenceAllele": "C", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364354.2:c.719del" ], "proteinEffect": { "hgvs": "NP_001351283.1:p.Ala240ValfsTer11", "hgvsWellDefined": "NP_001351283.1:p.[Ala240_Pro246del;Val248del;Val250_Thr254delinsHisTrp;Gly257del;Gly259_Tyr263delinsTrpPhe;Ser265_Thr269del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690882" }, { "coordinates": [ { "allele": "", "end": 1091, "referenceAllele": "C", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364355.2:c.719del" ], "proteinEffect": { "hgvs": "NP_001351284.1:p.Ala240ValfsTer11", "hgvsWellDefined": "NP_001351284.1:p.[Ala240_Pro246del;Val248del;Val250_Thr254delinsHisTrp;Gly257del;Gly259_Tyr263delinsTrpPhe;Ser265_Thr269del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690883" }, { "coordinates": [ { "allele": "", "end": 1235, "referenceAllele": "C", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_002397.5:c.863del" ], "proteinEffect": { "hgvs": "NP_002388.2:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_002388.2:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS695533", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000504921.7:c.863del" }, "RefSeq": { "hgvs": "NM_002397.5:c.863del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000421925.5:p.Ala288ValfsTer11" }, "RefSeq": { "hgvs": "NP_002388.2:p.Ala288ValfsTer11" } } } }, { "coordinates": [ { "allele": "", "end": 1091, "referenceAllele": "C", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001193349.3:c.719del" ], "proteinEffect": { "hgvs": "NP_001180278.1:p.Ala240ValfsTer11", "hgvsWellDefined": "NP_001180278.1:p.[Ala240_Pro246del;Val248del;Val250_Thr254delinsHisTrp;Gly257del;Gly259_Tyr263delinsTrpPhe;Ser265_Thr269del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS713731" }, { "coordinates": [ { "allele": "", "end": 1037, "referenceAllele": "C", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001363581.2:c.863del" ], "proteinEffect": { "hgvs": "NP_001350510.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001350510.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720756" }, { "coordinates": [ { "allele": "", "end": 1088, "referenceAllele": "C", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364332.2:c.719del" ], "proteinEffect": { "hgvs": "NP_001351261.1:p.Ala240ValfsTer11", "hgvsWellDefined": "NP_001351261.1:p.[Ala240_Pro246del;Val248del;Val250_Thr254delinsHisTrp;Gly257del;Gly259_Tyr263delinsTrpPhe;Ser265_Thr269del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720847" }, { "coordinates": [ { "allele": "", "end": 1424, "referenceAllele": "C", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364334.2:c.863del" ], "proteinEffect": { "hgvs": "NP_001351263.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351263.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720848" }, { "coordinates": [ { "allele": "", "end": 1053, "referenceAllele": "C", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364335.2:c.863del" ], "proteinEffect": { "hgvs": "NP_001351264.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351264.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720849" }, { "coordinates": [ { "allele": "", "end": 1235, "referenceAllele": "C", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364336.2:c.863del" ], "proteinEffect": { "hgvs": "NP_001351265.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351265.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720850" }, { "coordinates": [ { "allele": "", "end": 1232, "referenceAllele": "C", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364337.2:c.863del" ], "proteinEffect": { "hgvs": "NP_001351266.1:p.Ala288ValfsTer11", "hgvsWellDefined": "NP_001351266.1:p.[Ala288_Pro294del;Val296del;Val298_Thr302delinsHisTrp;Gly305del;Gly307_Tyr311delinsTrpPhe;Ser313_Thr317del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720851" }, { "coordinates": [ { "allele": "", "end": 1262, "referenceAllele": "C", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364338.2:c.893del" ], "proteinEffect": { "hgvs": "NP_001351267.1:p.Ala298ValfsTer11", "hgvsWellDefined": "NP_001351267.1:p.[Ala298_Pro304del;Val306del;Val308_Thr312delinsHisTrp;Gly315del;Gly317_Tyr321delinsTrpPhe;Ser323_Thr327del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720852" }, { "coordinates": [ { "allele": "", "end": 1211, "referenceAllele": "C", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364340.2:c.839del" ], "proteinEffect": { "hgvs": "NP_001351269.1:p.Ala280ValfsTer11", "hgvsWellDefined": "NP_001351269.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720853" }, { "coordinates": [ { "allele": "", "end": 1138, "referenceAllele": "C", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364341.2:c.839del" ], "proteinEffect": { "hgvs": "NP_001351270.1:p.Ala280ValfsTer11", "hgvsWellDefined": "NP_001351270.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720854" }, { "coordinates": [ { "allele": "", "end": 1135, "referenceAllele": "C", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364342.2:c.839del" ], "proteinEffect": { "hgvs": "NP_001351271.1:p.Ala280ValfsTer11", "hgvsWellDefined": "NP_001351271.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720855" }, { "coordinates": [ { "allele": "", "end": 1202, "referenceAllele": "C", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364343.2:c.833del" ], "proteinEffect": { "hgvs": "NP_001351272.1:p.Ala278ValfsTer11", "hgvsWellDefined": "NP_001351272.1:p.[Ala278_Pro284del;Val286del;Val288_Thr292delinsHisTrp;Gly295del;Gly297_Tyr301delinsTrpPhe;Ser303_Thr307del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720856" }, { "coordinates": [ { "allele": "", "end": 1323, "referenceAllele": "C", "start": 1322 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364350.2:c.839del" ], "proteinEffect": { "hgvs": "NP_001351279.1:p.Ala280ValfsTer11", "hgvsWellDefined": "NP_001351279.1:p.[Ala280_Pro286del;Val288del;Val290_Thr294delinsHisTrp;Gly297del;Gly299_Tyr303delinsTrpPhe;Ser305_Thr309del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720857" }, { "coordinates": [ { "allele": "", "end": 778, "referenceAllele": "C", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364356.2:c.485del" ], "proteinEffect": { "hgvs": "NP_001351285.1:p.Ala162ValfsTer11", "hgvsWellDefined": "NP_001351285.1:p.[Ala162_Pro168del;Val170del;Val172_Thr176delinsHisTrp;Gly179del;Gly181_Tyr185delinsTrpPhe;Ser187_Thr191del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720858" }, { "coordinates": [ { "allele": "", "end": 610, "referenceAllele": "C", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364357.2:c.413del" ], "proteinEffect": { "hgvs": "NP_001351286.1:p.Ala138ValfsTer11", "hgvsWellDefined": "NP_001351286.1:p.[Ala138_Pro144del;Val146del;Val148_Thr152delinsHisTrp;Gly155del;Gly157_Tyr161delinsTrpPhe;Ser163_Thr167del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720859" } ], "type": "nucleotide" }