Canonical Allele Identifier: CA2733539438

Gene: SMARCE1

Linked Data

• dbSNP Id: rs2143980314

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628842_40628849del , CM000679.2:g.40628842_40628849del	GRCh38
NC_000017.10:g.38785094_38785101del , CM000679.1:g.38785094_38785101del	GRCh37
NC_000017.9:g.36038620_36038627del	NCBI36
NG_032163.1:g.24012_24019del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.*743_*750del	ENSP00000466608.2:n.*743_*750del
ENST00000348513.12:c.1181_1188del MANE Select	ENSP00000323967.6:p.Ala394GlyfsTer12
ENST00000377808.9:c.*168_*175del	ENSP00000367039.4:n.*168_*175del
ENST00000400122.8:c.*168_*175del	ENSP00000411607.2:n.*168_*175del
ENST00000469334.6:n.1779_1786del
ENST00000578044.6:c.971_978del	ENSP00000464511.1:p.Ala324GlyfsTer12
ENST00000578112.6:c.*978_*985del	ENSP00000464501.1:n.*978_*985del
ENST00000580419.6:c.*160_*167del	ENSP00000462475.2:n.*160_*167del
ENST00000642576.1:n.2324_2331del
ENST00000643030.1:n.1804_1811del
ENST00000643255.1:c.*3245_*3252del	ENSP00000493957.1:n.*3245_*3252del
ENST00000643318.1:c.971_978del	ENSP00000494771.1:p.Ala324GlyfsTer12
ENST00000643378.1:n.1736_1743del
ENST00000643683.1:c.1181_1188del	ENSP00000496094.1:p.Ala394GlyfsTer12
ENST00000643893.1:n.1474_1481del
ENST00000644443.1:n.3069_3076del
ENST00000644523.1:n.1227_1234del
ENST00000644527.1:c.953_960del	ENSP00000493974.1:p.Ala318GlyfsTer12
ENST00000644701.1:c.*168_*175del	ENSP00000496097.1:n.*168_*175del
ENST00000644909.1:c.*450_*457del	ENSP00000493649.1:n.*450_*457del
ENST00000645152.1:n.1844_1851del
ENST00000645227.1:c.*869_*876del	ENSP00000495021.1:n.*869_*876del
ENST00000646242.1:n.7093_7100del
ENST00000646283.1:c.989_996del	ENSP00000494537.1:p.Ala330GlyfsTer12
ENST00000646401.1:n.2547_2554del
ENST00000646448.1:n.2455_2462del
ENST00000646856.1:c.*1057_*1064del	ENSP00000494505.1:n.*1057_*1064del
ENST00000647294.1:c.*1111_*1118del	ENSP00000494815.1:n.*1111_*1118del
ENST00000647508.1:c.1076_1083del	ENSP00000496445.1:p.Ala359GlyfsTer12
ENST00000647515.1:c.*712_*719del	ENSP00000495857.1:n.*712_*719del
ENST00000348513.10:c.1181_1188del	ENSP00000323967.6:p.Ala394GlyfsTer12
ENST00000377808.8:c.*168_*175del	ENSP00000367039.4:n.*168_*175del
ENST00000400122.7:c.*168_*175del	ENSP00000411607.2:n.*168_*175del
ENST00000431889.6:c.1127_1134del	ENSP00000445370.1:p.Ala376GlyfsTer12
ENST00000469334.5:n.1768_1775del
ENST00000476049.1:c.*1529_*1536del	ENSP00000463483.1:n.*1529_*1536del
ENST00000578044.5:c.971_978del	ENSP00000464511.1:p.Ala324GlyfsTer12
ENST00000578112.5:c.*978_*985del	ENSP00000464501.1:n.*978_*985del
ENST00000580419.5:c.1076_1083del	ENSP00000462475.1:p.Ala359GlyfsTer12
NM_003079.4:c.1181_1188del	NP_003070.3:p.Ala394GlyfsTer12
NM_003079.5:c.1181_1188del MANE Select	NP_003070.3:p.Ala394GlyfsTer12