Canonical Allele Identifier: CA2637750187

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628688-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628696del , CM000679.2:g.40628696del	GRCh38
NC_000017.10:g.38784948del , CM000679.1:g.38784948del	GRCh37
NC_000017.9:g.36038474del	NCBI36
NG_032163.1:g.24163del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*894del	ENSP00000466608.2:n.*894del
ENST00000348513.12:c.*96del MANE Select	ENSP00000323967.6:n.*96del
ENST00000377808.9:c.*319del	ENSP00000367039.4:n.*319del
ENST00000400122.8:c.*319del	ENSP00000411607.2:n.*319del
ENST00000469334.6:n.1930del
ENST00000578112.6:c.*1129del	ENSP00000464501.1:n.*1129del
ENST00000580419.6:c.*311del	ENSP00000462475.2:n.*311del
ENST00000642576.1:n.2475del
ENST00000643030.1:n.1955del
ENST00000643255.1:c.*3396del	ENSP00000493957.1:n.*3396del
ENST00000643318.1:c.*96del	ENSP00000494771.1:n.*96del
ENST00000643378.1:n.1887del
ENST00000643683.1:c.*96del	ENSP00000496094.1:n.*96del
ENST00000643893.1:n.1625del
ENST00000644443.1:n.3220del
ENST00000644523.1:n.1378del
ENST00000644527.1:c.*96del	ENSP00000493974.1:n.*96del
ENST00000644701.1:c.*319del	ENSP00000496097.1:n.*319del
ENST00000644909.1:c.*601del	ENSP00000493649.1:n.*601del
ENST00000645152.1:n.1995del
ENST00000645227.1:c.*1020del	ENSP00000495021.1:n.*1020del
ENST00000646242.1:n.7244del
ENST00000646283.1:c.*96del	ENSP00000494537.1:n.*96del
ENST00000646401.1:n.2698del
ENST00000646856.1:c.*1208del	ENSP00000494505.1:n.*1208del
ENST00000647294.1:c.*1262del	ENSP00000494815.1:n.*1262del
ENST00000647508.1:c.*96del	ENSP00000496445.1:n.*96del
ENST00000647515.1:c.*863del	ENSP00000495857.1:n.*863del
ENST00000348513.10:c.*96del	ENSP00000323967.6:n.*96del
ENST00000431889.6:c.*96del	ENSP00000445370.1:n.*96del
ENST00000469334.5:n.1919del
ENST00000578112.5:c.*1129del	ENSP00000464501.1:n.*1129del
NM_003079.4:c.*96del	NP_003070.3:n.*96del
NM_003079.5:c.*96del MANE Select	NP_003070.3:n.*96del