Canonical Allele Identifier: CA2637750223

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628757-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628760del , CM000679.2:g.40628760del	GRCh38
NC_000017.10:g.38785012del , CM000679.1:g.38785012del	GRCh37
NC_000017.9:g.36038538del	NCBI36
NG_032163.1:g.24094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*825del	ENSP00000466608.2:n.*825del
ENST00000348513.12:c.*27del MANE Select	ENSP00000323967.6:n.*27del
ENST00000377808.9:c.*250del	ENSP00000367039.4:n.*250del
ENST00000400122.8:c.*250del	ENSP00000411607.2:n.*250del
ENST00000469334.6:n.1861del
ENST00000578112.6:c.*1060del	ENSP00000464501.1:n.*1060del
ENST00000580419.6:c.*242del	ENSP00000462475.2:n.*242del
ENST00000642576.1:n.2406del
ENST00000643030.1:n.1886del
ENST00000643255.1:c.*3327del	ENSP00000493957.1:n.*3327del
ENST00000643318.1:c.*27del	ENSP00000494771.1:n.*27del
ENST00000643378.1:n.1818del
ENST00000643683.1:c.*27del	ENSP00000496094.1:n.*27del
ENST00000643893.1:n.1556del
ENST00000644443.1:n.3151del
ENST00000644523.1:n.1309del
ENST00000644527.1:c.*27del	ENSP00000493974.1:n.*27del
ENST00000644701.1:c.*250del	ENSP00000496097.1:n.*250del
ENST00000644909.1:c.*532del	ENSP00000493649.1:n.*532del
ENST00000645152.1:n.1926del
ENST00000645227.1:c.*951del	ENSP00000495021.1:n.*951del
ENST00000646242.1:n.7175del
ENST00000646283.1:c.*27del	ENSP00000494537.1:n.*27del
ENST00000646401.1:n.2629del
ENST00000646856.1:c.*1139del	ENSP00000494505.1:n.*1139del
ENST00000647294.1:c.*1193del	ENSP00000494815.1:n.*1193del
ENST00000647508.1:c.*27del	ENSP00000496445.1:n.*27del
ENST00000647515.1:c.*794del	ENSP00000495857.1:n.*794del
ENST00000348513.10:c.*27del	ENSP00000323967.6:n.*27del
ENST00000431889.6:c.*27del	ENSP00000445370.1:n.*27del
ENST00000469334.5:n.1850del
ENST00000578112.5:c.*1060del	ENSP00000464501.1:n.*1060del
NM_003079.4:c.*27del	NP_003070.3:n.*27del
NM_003079.5:c.*27del MANE Select	NP_003070.3:n.*27del