Canonical Allele Identifier: CA2637749969

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628373-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628376del , CM000679.2:g.40628376del	GRCh38
NC_000017.10:g.38784628del , CM000679.1:g.38784628del	GRCh37
NC_000017.9:g.36038154del	NCBI36
NG_032163.1:g.24478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1209del	ENSP00000466608.2:n.*1209del
ENST00000348513.12:c.*411del MANE Select	ENSP00000323967.6:n.*411del
ENST00000377808.9:c.*634del	ENSP00000367039.4:n.*634del
ENST00000400122.8:c.*634del	ENSP00000411607.2:n.*634del
ENST00000469334.6:n.2245del
ENST00000578112.6:c.*1444del	ENSP00000464501.1:n.*1444del
ENST00000580419.6:c.*626del	ENSP00000462475.2:n.*626del
ENST00000642576.1:n.2790del
ENST00000643030.1:n.2270del
ENST00000643255.1:c.*3711del	ENSP00000493957.1:n.*3711del
ENST00000643318.1:c.*411del	ENSP00000494771.1:n.*411del
ENST00000643378.1:n.2202del
ENST00000643683.1:c.*411del	ENSP00000496094.1:n.*411del
ENST00000643893.1:n.1940del
ENST00000644443.1:n.3535del
ENST00000644523.1:n.1693del
ENST00000644527.1:c.*411del	ENSP00000493974.1:n.*411del
ENST00000644701.1:c.*634del	ENSP00000496097.1:n.*634del
ENST00000644909.1:c.*916del	ENSP00000493649.1:n.*916del
ENST00000645152.1:n.2310del
ENST00000645227.1:c.*1335del	ENSP00000495021.1:n.*1335del
ENST00000646242.1:n.7559del
ENST00000646283.1:c.*411del	ENSP00000494537.1:n.*411del
ENST00000646401.1:n.3013del
ENST00000646856.1:c.*1523del	ENSP00000494505.1:n.*1523del
ENST00000647294.1:c.*1577del	ENSP00000494815.1:n.*1577del
ENST00000647508.1:c.*411del	ENSP00000496445.1:n.*411del
ENST00000647515.1:c.*1178del	ENSP00000495857.1:n.*1178del
ENST00000348513.10:c.*411del	ENSP00000323967.6:n.*411del
ENST00000578112.5:c.*1444del	ENSP00000464501.1:n.*1444del
NM_003079.4:c.*411del	NP_003070.3:n.*411del
NM_003079.5:c.*411del MANE Select	NP_003070.3:n.*411del