Canonical Allele Identifier: CA2836824758

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628774_40628776del , CM000679.2:g.40628774_40628776del	GRCh38
NC_000017.10:g.38785026_38785028del , CM000679.1:g.38785026_38785028del	GRCh37
NC_000017.9:g.36038552_36038554del	NCBI36
NG_032163.1:g.24078_24080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*809_*811del	ENSP00000466608.2:n.*809_*811del
ENST00000348513.12:c.*11_*13del MANE Select	ENSP00000323967.6:n.*11_*13del
ENST00000377808.9:c.*234_*236del	ENSP00000367039.4:n.*234_*236del
ENST00000400122.8:c.*234_*236del	ENSP00000411607.2:n.*234_*236del
ENST00000469334.6:n.1845_1847del
ENST00000578112.6:c.*1044_*1046del	ENSP00000464501.1:n.*1044_*1046del
ENST00000580419.6:c.*226_*228del	ENSP00000462475.2:n.*226_*228del
ENST00000642576.1:n.2390_2392del
ENST00000643030.1:n.1870_1872del
ENST00000643255.1:c.*3311_*3313del	ENSP00000493957.1:n.*3311_*3313del
ENST00000643318.1:c.*11_*13del	ENSP00000494771.1:n.*11_*13del
ENST00000643378.1:n.1802_1804del
ENST00000643683.1:c.*11_*13del	ENSP00000496094.1:n.*11_*13del
ENST00000643893.1:n.1540_1542del
ENST00000644443.1:n.3135_3137del
ENST00000644523.1:n.1293_1295del
ENST00000644527.1:c.*11_*13del	ENSP00000493974.1:n.*11_*13del
ENST00000644701.1:c.*234_*236del	ENSP00000496097.1:n.*234_*236del
ENST00000644909.1:c.*516_*518del	ENSP00000493649.1:n.*516_*518del
ENST00000645152.1:n.1910_1912del
ENST00000645227.1:c.*935_*937del	ENSP00000495021.1:n.*935_*937del
ENST00000646242.1:n.7159_7161del
ENST00000646283.1:c.*11_*13del	ENSP00000494537.1:n.*11_*13del
ENST00000646401.1:n.2613_2615del
ENST00000646856.1:c.*1123_*1125del	ENSP00000494505.1:n.*1123_*1125del
ENST00000647294.1:c.*1177_*1179del	ENSP00000494815.1:n.*1177_*1179del
ENST00000647508.1:c.*11_*13del	ENSP00000496445.1:n.*11_*13del
ENST00000647515.1:c.*778_*780del	ENSP00000495857.1:n.*778_*780del
ENST00000348513.10:c.*11_*13del	ENSP00000323967.6:n.*11_*13del
ENST00000431889.6:c.*11_*13del	ENSP00000445370.1:n.*11_*13del
ENST00000469334.5:n.1834_1836del
ENST00000578112.5:c.*1044_*1046del	ENSP00000464501.1:n.*1044_*1046del
NM_003079.4:c.*11_*13del	NP_003070.3:n.*11_*13del
NM_003079.5:c.*11_*13del MANE Select	NP_003070.3:n.*11_*13del