Canonical Allele Identifier: CA2637750190

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628694-AAATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628698_40628701del , CM000679.2:g.40628698_40628701del	GRCh38
NC_000017.10:g.38784950_38784953del , CM000679.1:g.38784950_38784953del	GRCh37
NC_000017.9:g.36038476_36038479del	NCBI36
NG_032163.1:g.24154_24157del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*885_*888del	ENSP00000466608.2:n.*885_*888del
ENST00000348513.12:c.*87_*90del MANE Select	ENSP00000323967.6:n.*87_*90del
ENST00000377808.9:c.*310_*313del	ENSP00000367039.4:n.*310_*313del
ENST00000400122.8:c.*310_*313del	ENSP00000411607.2:n.*310_*313del
ENST00000469334.6:n.1921_1924del
ENST00000578112.6:c.*1120_*1123del	ENSP00000464501.1:n.*1120_*1123del
ENST00000580419.6:c.*302_*305del	ENSP00000462475.2:n.*302_*305del
ENST00000642576.1:n.2466_2469del
ENST00000643030.1:n.1946_1949del
ENST00000643255.1:c.*3387_*3390del	ENSP00000493957.1:n.*3387_*3390del
ENST00000643318.1:c.*87_*90del	ENSP00000494771.1:n.*87_*90del
ENST00000643378.1:n.1878_1881del
ENST00000643683.1:c.*87_*90del	ENSP00000496094.1:n.*87_*90del
ENST00000643893.1:n.1616_1619del
ENST00000644443.1:n.3211_3214del
ENST00000644523.1:n.1369_1372del
ENST00000644527.1:c.*87_*90del	ENSP00000493974.1:n.*87_*90del
ENST00000644701.1:c.*310_*313del	ENSP00000496097.1:n.*310_*313del
ENST00000644909.1:c.*592_*595del	ENSP00000493649.1:n.*592_*595del
ENST00000645152.1:n.1986_1989del
ENST00000645227.1:c.*1011_*1014del	ENSP00000495021.1:n.*1011_*1014del
ENST00000646242.1:n.7235_7238del
ENST00000646283.1:c.*87_*90del	ENSP00000494537.1:n.*87_*90del
ENST00000646401.1:n.2689_2692del
ENST00000646856.1:c.*1199_*1202del	ENSP00000494505.1:n.*1199_*1202del
ENST00000647294.1:c.*1253_*1256del	ENSP00000494815.1:n.*1253_*1256del
ENST00000647508.1:c.*87_*90del	ENSP00000496445.1:n.*87_*90del
ENST00000647515.1:c.*854_*857del	ENSP00000495857.1:n.*854_*857del
ENST00000348513.10:c.*87_*90del	ENSP00000323967.6:n.*87_*90del
ENST00000431889.6:c.*87_*90del	ENSP00000445370.1:n.*87_*90del
ENST00000469334.5:n.1910_1913del
ENST00000578112.5:c.*1120_*1123del	ENSP00000464501.1:n.*1120_*1123del
NM_003079.4:c.*87_*90del	NP_003070.3:n.*87_*90del
NM_003079.5:c.*87_*90del MANE Select	NP_003070.3:n.*87_*90del