Canonical Allele Identifier: CA2637750034

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628494-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628497del , CM000679.2:g.40628497del	GRCh38
NC_000017.10:g.38784749del , CM000679.1:g.38784749del	GRCh37
NC_000017.9:g.36038275del	NCBI36
NG_032163.1:g.24357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1088del	ENSP00000466608.2:n.*1088del
ENST00000348513.12:c.*290del MANE Select	ENSP00000323967.6:n.*290del
ENST00000377808.9:c.*513del	ENSP00000367039.4:n.*513del
ENST00000400122.8:c.*513del	ENSP00000411607.2:n.*513del
ENST00000469334.6:n.2124del
ENST00000578112.6:c.*1323del	ENSP00000464501.1:n.*1323del
ENST00000580419.6:c.*505del	ENSP00000462475.2:n.*505del
ENST00000642576.1:n.2669del
ENST00000643030.1:n.2149del
ENST00000643255.1:c.*3590del	ENSP00000493957.1:n.*3590del
ENST00000643318.1:c.*290del	ENSP00000494771.1:n.*290del
ENST00000643378.1:n.2081del
ENST00000643683.1:c.*290del	ENSP00000496094.1:n.*290del
ENST00000643893.1:n.1819del
ENST00000644443.1:n.3414del
ENST00000644523.1:n.1572del
ENST00000644527.1:c.*290del	ENSP00000493974.1:n.*290del
ENST00000644701.1:c.*513del	ENSP00000496097.1:n.*513del
ENST00000644909.1:c.*795del	ENSP00000493649.1:n.*795del
ENST00000645152.1:n.2189del
ENST00000645227.1:c.*1214del	ENSP00000495021.1:n.*1214del
ENST00000646242.1:n.7438del
ENST00000646283.1:c.*290del	ENSP00000494537.1:n.*290del
ENST00000646401.1:n.2892del
ENST00000646856.1:c.*1402del	ENSP00000494505.1:n.*1402del
ENST00000647294.1:c.*1456del	ENSP00000494815.1:n.*1456del
ENST00000647508.1:c.*290del	ENSP00000496445.1:n.*290del
ENST00000647515.1:c.*1057del	ENSP00000495857.1:n.*1057del
ENST00000348513.10:c.*290del	ENSP00000323967.6:n.*290del
ENST00000431889.6:c.*290del	ENSP00000445370.1:n.*290del
ENST00000469334.5:n.2113del
ENST00000578112.5:c.*1323del	ENSP00000464501.1:n.*1323del
NM_003079.4:c.*290del	NP_003070.3:n.*290del
NM_003079.5:c.*290del MANE Select	NP_003070.3:n.*290del