Canonical Allele Identifier: CA983694687

Gene: SMARCE1

Linked Data

• dbSNP Id: rs2037057159
• gnomAD v3: 17-40628485-CT-C
• gnomAD v4: 17-40628485-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628486del , CM000679.2:g.40628486del	GRCh38
NC_000017.10:g.38784738del , CM000679.1:g.38784738del	GRCh37
NC_000017.9:g.36038264del	NCBI36
NG_032163.1:g.24366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1097del	ENSP00000466608.2:n.*1097del
ENST00000348513.12:c.*299del MANE Select	ENSP00000323967.6:n.*299del
ENST00000377808.9:c.*522del	ENSP00000367039.4:n.*522del
ENST00000400122.8:c.*522del	ENSP00000411607.2:n.*522del
ENST00000469334.6:n.2133del
ENST00000578112.6:c.*1332del	ENSP00000464501.1:n.*1332del
ENST00000580419.6:c.*514del	ENSP00000462475.2:n.*514del
ENST00000642576.1:n.2678del
ENST00000643030.1:n.2158del
ENST00000643255.1:c.*3599del	ENSP00000493957.1:n.*3599del
ENST00000643318.1:c.*299del	ENSP00000494771.1:n.*299del
ENST00000643378.1:n.2090del
ENST00000643683.1:c.*299del	ENSP00000496094.1:n.*299del
ENST00000643893.1:n.1828del
ENST00000644443.1:n.3423del
ENST00000644523.1:n.1581del
ENST00000644527.1:c.*299del	ENSP00000493974.1:n.*299del
ENST00000644701.1:c.*522del	ENSP00000496097.1:n.*522del
ENST00000644909.1:c.*804del	ENSP00000493649.1:n.*804del
ENST00000645152.1:n.2198del
ENST00000645227.1:c.*1223del	ENSP00000495021.1:n.*1223del
ENST00000646242.1:n.7447del
ENST00000646283.1:c.*299del	ENSP00000494537.1:n.*299del
ENST00000646401.1:n.2901del
ENST00000646856.1:c.*1411del	ENSP00000494505.1:n.*1411del
ENST00000647294.1:c.*1465del	ENSP00000494815.1:n.*1465del
ENST00000647508.1:c.*299del	ENSP00000496445.1:n.*299del
ENST00000647515.1:c.*1066del	ENSP00000495857.1:n.*1066del
ENST00000348513.10:c.*299del	ENSP00000323967.6:n.*299del
ENST00000431889.6:c.*299del	ENSP00000445370.1:n.*299del
ENST00000469334.5:n.2122del
ENST00000578112.5:c.*1332del	ENSP00000464501.1:n.*1332del
NM_003079.4:c.*299del	NP_003070.3:n.*299del
NM_003079.5:c.*299del MANE Select	NP_003070.3:n.*299del