Canonical Allele Identifier: CA2637749987

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628414-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628417del , CM000679.2:g.40628417del	GRCh38
NC_000017.10:g.38784669del , CM000679.1:g.38784669del	GRCh37
NC_000017.9:g.36038195del	NCBI36
NG_032163.1:g.24437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1168del	ENSP00000466608.2:n.*1168del
ENST00000348513.12:c.*370del MANE Select	ENSP00000323967.6:n.*370del
ENST00000377808.9:c.*593del	ENSP00000367039.4:n.*593del
ENST00000400122.8:c.*593del	ENSP00000411607.2:n.*593del
ENST00000469334.6:n.2204del
ENST00000578112.6:c.*1403del	ENSP00000464501.1:n.*1403del
ENST00000580419.6:c.*585del	ENSP00000462475.2:n.*585del
ENST00000642576.1:n.2749del
ENST00000643030.1:n.2229del
ENST00000643255.1:c.*3670del	ENSP00000493957.1:n.*3670del
ENST00000643318.1:c.*370del	ENSP00000494771.1:n.*370del
ENST00000643378.1:n.2161del
ENST00000643683.1:c.*370del	ENSP00000496094.1:n.*370del
ENST00000643893.1:n.1899del
ENST00000644443.1:n.3494del
ENST00000644523.1:n.1652del
ENST00000644527.1:c.*370del	ENSP00000493974.1:n.*370del
ENST00000644701.1:c.*593del	ENSP00000496097.1:n.*593del
ENST00000644909.1:c.*875del	ENSP00000493649.1:n.*875del
ENST00000645152.1:n.2269del
ENST00000645227.1:c.*1294del	ENSP00000495021.1:n.*1294del
ENST00000646242.1:n.7518del
ENST00000646283.1:c.*370del	ENSP00000494537.1:n.*370del
ENST00000646401.1:n.2972del
ENST00000646856.1:c.*1482del	ENSP00000494505.1:n.*1482del
ENST00000647294.1:c.*1536del	ENSP00000494815.1:n.*1536del
ENST00000647508.1:c.*370del	ENSP00000496445.1:n.*370del
ENST00000647515.1:c.*1137del	ENSP00000495857.1:n.*1137del
ENST00000348513.10:c.*370del	ENSP00000323967.6:n.*370del
ENST00000578112.5:c.*1403del	ENSP00000464501.1:n.*1403del
NM_003079.4:c.*370del	NP_003070.3:n.*370del
NM_003079.5:c.*370del MANE Select	NP_003070.3:n.*370del