Canonical Allele Identifier: CA2259640428

Gene: SMARCE1

Linked Data

• dbSNP Id: rs2037057924

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628624del , CM000679.2:g.40628624del	GRCh38
NC_000017.10:g.38784876del , CM000679.1:g.38784876del	GRCh37
NC_000017.9:g.36038402del	NCBI36
NG_032163.1:g.24228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*959del	ENSP00000466608.2:n.*959del
ENST00000348513.12:c.*161del MANE Select	ENSP00000323967.6:n.*161del
ENST00000377808.9:c.*384del	ENSP00000367039.4:n.*384del
ENST00000400122.8:c.*384del	ENSP00000411607.2:n.*384del
ENST00000469334.6:n.1995del
ENST00000578112.6:c.*1194del	ENSP00000464501.1:n.*1194del
ENST00000580419.6:c.*376del	ENSP00000462475.2:n.*376del
ENST00000642576.1:n.2540del
ENST00000643030.1:n.2020del
ENST00000643255.1:c.*3461del	ENSP00000493957.1:n.*3461del
ENST00000643318.1:c.*161del	ENSP00000494771.1:n.*161del
ENST00000643378.1:n.1952del
ENST00000643683.1:c.*161del	ENSP00000496094.1:n.*161del
ENST00000643893.1:n.1690del
ENST00000644443.1:n.3285del
ENST00000644523.1:n.1443del
ENST00000644527.1:c.*161del	ENSP00000493974.1:n.*161del
ENST00000644701.1:c.*384del	ENSP00000496097.1:n.*384del
ENST00000644909.1:c.*666del	ENSP00000493649.1:n.*666del
ENST00000645152.1:n.2060del
ENST00000645227.1:c.*1085del	ENSP00000495021.1:n.*1085del
ENST00000646242.1:n.7309del
ENST00000646283.1:c.*161del	ENSP00000494537.1:n.*161del
ENST00000646401.1:n.2763del
ENST00000646856.1:c.*1273del	ENSP00000494505.1:n.*1273del
ENST00000647294.1:c.*1327del	ENSP00000494815.1:n.*1327del
ENST00000647508.1:c.*161del	ENSP00000496445.1:n.*161del
ENST00000647515.1:c.*928del	ENSP00000495857.1:n.*928del
ENST00000348513.10:c.*161del	ENSP00000323967.6:n.*161del
ENST00000431889.6:c.*161del	ENSP00000445370.1:n.*161del
ENST00000469334.5:n.1984del
ENST00000578112.5:c.*1194del	ENSP00000464501.1:n.*1194del
NM_003079.4:c.*161del	NP_003070.3:n.*161del
NM_003079.5:c.*161del MANE Select	NP_003070.3:n.*161del