Canonical Allele Identifier: CA2259640495

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628778_40628779delinsGC , CM000679.2:g.40628778_40628779delinsGC	GRCh38
NC_000017.10:g.38785030_38785031delinsGC , CM000679.1:g.38785030_38785031delinsGC	GRCh37
NC_000017.9:g.36038556_36038557delinsGC	NCBI36
NG_032163.1:g.24073_24074delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*804_*805delinsGC	ENSP00000466608.2:n.*804_*805delinsGC
ENST00000348513.12:c.*6_*7delinsGC MANE Select	ENSP00000323967.6:n.*6_*7delinsGC
ENST00000377808.9:c.*229_*230delinsGC	ENSP00000367039.4:n.*229_*230delinsGC
ENST00000400122.8:c.*229_*230delinsGC	ENSP00000411607.2:n.*229_*230delinsGC
ENST00000469334.6:n.1840_1841delinsGC
ENST00000578112.6:c.*1039_*1040delinsGC	ENSP00000464501.1:n.*1039_*1040delinsGC
ENST00000580419.6:c.*221_*222delinsGC	ENSP00000462475.2:n.*221_*222delinsGC
ENST00000642576.1:n.2385_2386delinsGC
ENST00000643030.1:n.1865_1866delinsGC
ENST00000643255.1:c.*3306_*3307delinsGC	ENSP00000493957.1:n.*3306_*3307delinsGC
ENST00000643318.1:c.*6_*7delinsGC	ENSP00000494771.1:n.*6_*7delinsGC
ENST00000643378.1:n.1797_1798delinsGC
ENST00000643683.1:c.*6_*7delinsGC	ENSP00000496094.1:n.*6_*7delinsGC
ENST00000643893.1:n.1535_1536delinsGC
ENST00000644443.1:n.3130_3131delinsGC
ENST00000644523.1:n.1288_1289delinsGC
ENST00000644527.1:c.*6_*7delinsGC	ENSP00000493974.1:n.*6_*7delinsGC
ENST00000644701.1:c.*229_*230delinsGC	ENSP00000496097.1:n.*229_*230delinsGC
ENST00000644909.1:c.*511_*512delinsGC	ENSP00000493649.1:n.*511_*512delinsGC
ENST00000645152.1:n.1905_1906delinsGC
ENST00000645227.1:c.*930_*931delinsGC	ENSP00000495021.1:n.*930_*931delinsGC
ENST00000646242.1:n.7154_7155delinsGC
ENST00000646283.1:c.*6_*7delinsGC	ENSP00000494537.1:n.*6_*7delinsGC
ENST00000646401.1:n.2608_2609delinsGC
ENST00000646448.1:n.2516_2517delinsGC
ENST00000646856.1:c.*1118_*1119delinsGC	ENSP00000494505.1:n.*1118_*1119delinsGC
ENST00000647294.1:c.*1172_*1173delinsGC	ENSP00000494815.1:n.*1172_*1173delinsGC
ENST00000647508.1:c.*6_*7delinsGC	ENSP00000496445.1:n.*6_*7delinsGC
ENST00000647515.1:c.*773_*774delinsGC	ENSP00000495857.1:n.*773_*774delinsGC
ENST00000348513.10:c.*6_*7delinsGC	ENSP00000323967.6:n.*6_*7delinsGC
ENST00000431889.6:c.*6_*7delinsGC	ENSP00000445370.1:n.*6_*7delinsGC
ENST00000469334.5:n.1829_1830delinsGC
ENST00000578112.5:c.*1039_*1040delinsGC	ENSP00000464501.1:n.*1039_*1040delinsGC
NM_003079.4:c.*6_*7delinsGC	NP_003070.3:n.*6_*7delinsGC
NM_003079.5:c.*6_*7delinsGC MANE Select	NP_003070.3:n.*6_*7delinsGC