Canonical Allele Identifier: CA2259640348

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628381_40628384delinsAGAG , CM000679.2:g.40628381_40628384delinsAGAG	GRCh38
NC_000017.10:g.38784633_38784636delinsAGAG , CM000679.1:g.38784633_38784636delinsAGAG	GRCh37
NC_000017.9:g.36038159_36038162delinsAGAG	NCBI36
NG_032163.1:g.24468_24471delinsCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1199_*1202delinsCTCT	ENSP00000466608.2:n.*1199_*1202delinsCTCT
ENST00000348513.12:c.*401_*404delinsCTCT MANE Select	ENSP00000323967.6:n.*401_*404delinsCTCT
ENST00000377808.9:c.*624_*627delinsCTCT	ENSP00000367039.4:n.*624_*627delinsCTCT
ENST00000400122.8:c.*624_*627delinsCTCT	ENSP00000411607.2:n.*624_*627delinsCTCT
ENST00000469334.6:n.2235_2238delinsCTCT
ENST00000578112.6:c.*1434_*1437delinsCTCT	ENSP00000464501.1:n.*1434_*1437delinsCTCT
ENST00000580419.6:c.*616_*619delinsCTCT	ENSP00000462475.2:n.*616_*619delinsCTCT
ENST00000642576.1:n.2780_2783delinsCTCT
ENST00000643030.1:n.2260_2263delinsCTCT
ENST00000643255.1:c.*3701_*3704delinsCTCT	ENSP00000493957.1:n.*3701_*3704delinsCTCT
ENST00000643318.1:c.*401_*404delinsCTCT	ENSP00000494771.1:n.*401_*404delinsCTCT
ENST00000643378.1:n.2192_2195delinsCTCT
ENST00000643683.1:c.*401_*404delinsCTCT	ENSP00000496094.1:n.*401_*404delinsCTCT
ENST00000643893.1:n.1930_1933delinsCTCT
ENST00000644443.1:n.3525_3528delinsCTCT
ENST00000644523.1:n.1683_1686delinsCTCT
ENST00000644527.1:c.*401_*404delinsCTCT	ENSP00000493974.1:n.*401_*404delinsCTCT
ENST00000644701.1:c.*624_*627delinsCTCT	ENSP00000496097.1:n.*624_*627delinsCTCT
ENST00000644909.1:c.*906_*909delinsCTCT	ENSP00000493649.1:n.*906_*909delinsCTCT
ENST00000645152.1:n.2300_2303delinsCTCT
ENST00000645227.1:c.*1325_*1328delinsCTCT	ENSP00000495021.1:n.*1325_*1328delinsCTCT
ENST00000646242.1:n.7549_7552delinsCTCT
ENST00000646283.1:c.*401_*404delinsCTCT	ENSP00000494537.1:n.*401_*404delinsCTCT
ENST00000646401.1:n.3003_3006delinsCTCT
ENST00000646856.1:c.*1513_*1516delinsCTCT	ENSP00000494505.1:n.*1513_*1516delinsCTCT
ENST00000647294.1:c.*1567_*1570delinsCTCT	ENSP00000494815.1:n.*1567_*1570delinsCTCT
ENST00000647508.1:c.*401_*404delinsCTCT	ENSP00000496445.1:n.*401_*404delinsCTCT
ENST00000647515.1:c.*1168_*1171delinsCTCT	ENSP00000495857.1:n.*1168_*1171delinsCTCT
ENST00000348513.10:c.*401_*404delinsCTCT	ENSP00000323967.6:n.*401_*404delinsCTCT
ENST00000578112.5:c.*1434_*1437delinsCTCT	ENSP00000464501.1:n.*1434_*1437delinsCTCT
NM_003079.4:c.*401_*404delinsCTCT	NP_003070.3:n.*401_*404delinsCTCT
NM_003079.5:c.*401_*404delinsCTCT MANE Select	NP_003070.3:n.*401_*404delinsCTCT