Canonical Allele Identifier: CA2637750211

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628727-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628729del , CM000679.2:g.40628729del	GRCh38
NC_000017.10:g.38784981del , CM000679.1:g.38784981del	GRCh37
NC_000017.9:g.36038507del	NCBI36
NG_032163.1:g.24124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*855del	ENSP00000466608.2:n.*855del
ENST00000348513.12:c.*57del MANE Select	ENSP00000323967.6:n.*57del
ENST00000377808.9:c.*280del	ENSP00000367039.4:n.*280del
ENST00000400122.8:c.*280del	ENSP00000411607.2:n.*280del
ENST00000469334.6:n.1891del
ENST00000578112.6:c.*1090del	ENSP00000464501.1:n.*1090del
ENST00000580419.6:c.*272del	ENSP00000462475.2:n.*272del
ENST00000642576.1:n.2436del
ENST00000643030.1:n.1916del
ENST00000643255.1:c.*3357del	ENSP00000493957.1:n.*3357del
ENST00000643318.1:c.*57del	ENSP00000494771.1:n.*57del
ENST00000643378.1:n.1848del
ENST00000643683.1:c.*57del	ENSP00000496094.1:n.*57del
ENST00000643893.1:n.1586del
ENST00000644443.1:n.3181del
ENST00000644523.1:n.1339del
ENST00000644527.1:c.*57del	ENSP00000493974.1:n.*57del
ENST00000644701.1:c.*280del	ENSP00000496097.1:n.*280del
ENST00000644909.1:c.*562del	ENSP00000493649.1:n.*562del
ENST00000645152.1:n.1956del
ENST00000645227.1:c.*981del	ENSP00000495021.1:n.*981del
ENST00000646242.1:n.7205del
ENST00000646283.1:c.*57del	ENSP00000494537.1:n.*57del
ENST00000646401.1:n.2659del
ENST00000646856.1:c.*1169del	ENSP00000494505.1:n.*1169del
ENST00000647294.1:c.*1223del	ENSP00000494815.1:n.*1223del
ENST00000647508.1:c.*57del	ENSP00000496445.1:n.*57del
ENST00000647515.1:c.*824del	ENSP00000495857.1:n.*824del
ENST00000348513.10:c.*57del	ENSP00000323967.6:n.*57del
ENST00000431889.6:c.*57del	ENSP00000445370.1:n.*57del
ENST00000469334.5:n.1880del
ENST00000578112.5:c.*1090del	ENSP00000464501.1:n.*1090del
NM_003079.4:c.*57del	NP_003070.3:n.*57del
NM_003079.5:c.*57del MANE Select	NP_003070.3:n.*57del