Canonical Allele Identifier: CA2637750205

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628714-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628716del , CM000679.2:g.40628716del	GRCh38
NC_000017.10:g.38784968del , CM000679.1:g.38784968del	GRCh37
NC_000017.9:g.36038494del	NCBI36
NG_032163.1:g.24137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*868del	ENSP00000466608.2:n.*868del
ENST00000348513.12:c.*70del MANE Select	ENSP00000323967.6:n.*70del
ENST00000377808.9:c.*293del	ENSP00000367039.4:n.*293del
ENST00000400122.8:c.*293del	ENSP00000411607.2:n.*293del
ENST00000469334.6:n.1904del
ENST00000578112.6:c.*1103del	ENSP00000464501.1:n.*1103del
ENST00000580419.6:c.*285del	ENSP00000462475.2:n.*285del
ENST00000642576.1:n.2449del
ENST00000643030.1:n.1929del
ENST00000643255.1:c.*3370del	ENSP00000493957.1:n.*3370del
ENST00000643318.1:c.*70del	ENSP00000494771.1:n.*70del
ENST00000643378.1:n.1861del
ENST00000643683.1:c.*70del	ENSP00000496094.1:n.*70del
ENST00000643893.1:n.1599del
ENST00000644443.1:n.3194del
ENST00000644523.1:n.1352del
ENST00000644527.1:c.*70del	ENSP00000493974.1:n.*70del
ENST00000644701.1:c.*293del	ENSP00000496097.1:n.*293del
ENST00000644909.1:c.*575del	ENSP00000493649.1:n.*575del
ENST00000645152.1:n.1969del
ENST00000645227.1:c.*994del	ENSP00000495021.1:n.*994del
ENST00000646242.1:n.7218del
ENST00000646283.1:c.*70del	ENSP00000494537.1:n.*70del
ENST00000646401.1:n.2672del
ENST00000646856.1:c.*1182del	ENSP00000494505.1:n.*1182del
ENST00000647294.1:c.*1236del	ENSP00000494815.1:n.*1236del
ENST00000647508.1:c.*70del	ENSP00000496445.1:n.*70del
ENST00000647515.1:c.*837del	ENSP00000495857.1:n.*837del
ENST00000348513.10:c.*70del	ENSP00000323967.6:n.*70del
ENST00000431889.6:c.*70del	ENSP00000445370.1:n.*70del
ENST00000469334.5:n.1893del
ENST00000578112.5:c.*1103del	ENSP00000464501.1:n.*1103del
NM_003079.4:c.*70del	NP_003070.3:n.*70del
NM_003079.5:c.*70del MANE Select	NP_003070.3:n.*70del