Canonical Allele Identifier: CA2964384256
Community Standard Title: NM_003079.5(SMARCE1):c.1021del (p.Glu341ArgfsTer?)
Gene: SMARCE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40630721del , CM000679.2:g.40630721del GRCh38
NC_000017.10:g.38786973del , CM000679.1:g.38786973del GRCh37
NC_000017.9:g.36040499del NCBI36
NG_032163.1:g.22132del

Transcript Alleles

HGVS Amino-acid Change
NM_003079.5:c.1021del MANE Select NP_003070.3:p.Glu341ArgfsTer?
ENST00000348513.12:c.1021del MANE Select ENSP00000323967.6:p.Glu341ArgfsTer?
NM_003079.4:c.1021del NP_003070.3:p.Glu341ArgfsTer?
ENST00000264640.8:c.461del
ENST00000264640.9:c.1021del ENSP00000466608.2:p.Glu341ArgfsTer?
ENST00000348513.10:c.1021del ENSP00000323967.6:p.Glu341ArgfsTer?
ENST00000377808.8:c.916del ENSP00000367039.4:p.Glu306ArgfsTer?
ENST00000377808.9:c.916del ENSP00000367039.4:p.Glu306ArgfsTer?
ENST00000400122.7:c.811del ENSP00000411607.2:p.Glu271ArgfsTer?
ENST00000400122.8:c.811del ENSP00000411607.2:p.Glu271ArgfsTer?
ENST00000431889.6:c.967del ENSP00000445370.1:p.Glu323ArgfsTer?
ENST00000447024.5:c.403del ENSP00000392958.1:p.Glu135ArgfsTer?
ENST00000447024.6:c.1021del ENSP00000392958.2:p.Glu341ArgfsTer?
ENST00000469334.5:n.1608del
ENST00000469334.6:n.1619del
ENST00000476049.1:c.*1369del ENSP00000463483.1:n.*1369del
ENST00000578044.5:c.811del ENSP00000464511.1:p.Glu271ArgfsTer?
ENST00000578044.6:c.811del ENSP00000464511.1:p.Glu271ArgfsTer?
ENST00000578112.5:c.*818del ENSP00000464501.1:n.*818del
ENST00000578112.6:c.*818del ENSP00000464501.1:n.*818del
ENST00000580419.5:c.916del ENSP00000462475.1:p.Glu306ArgfsTer?
ENST00000580419.6:c.916del ENSP00000462475.2:p.Glu306ArgfsTer3
ENST00000642459.1:c.811del ENSP00000496546.1:p.Glu271ArgfsTer6
ENST00000642576.1:n.2164del
ENST00000643030.1:n.1644del
ENST00000643255.1:c.*3085del ENSP00000493957.1:n.*3085del
ENST00000643318.1:c.811del ENSP00000494771.1:p.Glu271ArgfsTer?
ENST00000643378.1:n.1576del
ENST00000643580.1:n.375del
ENST00000643683.1:c.1021del ENSP00000496094.1:p.Glu341ArgfsTer?
ENST00000643893.1:n.1314del
ENST00000644443.1:n.2909del
ENST00000644523.1:n.1067del
ENST00000644527.1:c.811del ENSP00000493974.1:p.Glu271ArgfsTer?
ENST00000644701.1:c.1021del ENSP00000496097.1:p.Glu341ArgfsTer?
ENST00000644909.1:c.*290del ENSP00000493649.1:n.*290del
ENST00000645104.1:c.916del ENSP00000496311.1:p.Glu306ArgfsTer6
ENST00000645152.1:n.1684del
ENST00000645227.1:c.*630del ENSP00000495021.1:n.*630del
ENST00000646242.1:n.5213del
ENST00000646283.1:c.829del ENSP00000494537.1:p.Glu277ArgfsTer?
ENST00000646401.1:n.2308del
ENST00000646448.1:n.2295del
ENST00000646482.1:c.1021del ENSP00000496661.1:p.Glu341ArgfsTer6
ENST00000646856.1:c.*818del ENSP00000494505.1:n.*818del
ENST00000647294.1:c.*951del ENSP00000494815.1:n.*951del
ENST00000647508.1:c.916del ENSP00000496445.1:p.Glu306ArgfsTer?
ENST00000647515.1:c.811del ENSP00000495857.1:p.Glu271ArgfsTer14