Canonical Allele Identifier: CA771947587

Gene: SMARCE1

Linked Data

• dbSNP Id: rs1192950456
• gnomAD v3: 17-40628471-TG-T
• gnomAD v4: 17-40628471-TG-T
• MyVariant Identifiers: chr17:g.38784724del (hg19) ; chr17:g.40628472del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628472del , CM000679.2:g.40628472del	GRCh38
NC_000017.10:g.38784724del , CM000679.1:g.38784724del	GRCh37
NC_000017.9:g.36038250del	NCBI36
NG_032163.1:g.24380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1111del	ENSP00000466608.2:n.*1111del
ENST00000348513.12:c.*313del MANE Select	ENSP00000323967.6:n.*313del
ENST00000377808.9:c.*536del	ENSP00000367039.4:n.*536del
ENST00000400122.8:c.*536del	ENSP00000411607.2:n.*536del
ENST00000469334.6:n.2147del
ENST00000578112.6:c.*1346del	ENSP00000464501.1:n.*1346del
ENST00000580419.6:c.*528del	ENSP00000462475.2:n.*528del
ENST00000642576.1:n.2692del
ENST00000643030.1:n.2172del
ENST00000643255.1:c.*3613del	ENSP00000493957.1:n.*3613del
ENST00000643318.1:c.*313del	ENSP00000494771.1:n.*313del
ENST00000643378.1:n.2104del
ENST00000643683.1:c.*313del	ENSP00000496094.1:n.*313del
ENST00000643893.1:n.1842del
ENST00000644443.1:n.3437del
ENST00000644523.1:n.1595del
ENST00000644527.1:c.*313del	ENSP00000493974.1:n.*313del
ENST00000644701.1:c.*536del	ENSP00000496097.1:n.*536del
ENST00000644909.1:c.*818del	ENSP00000493649.1:n.*818del
ENST00000645152.1:n.2212del
ENST00000645227.1:c.*1237del	ENSP00000495021.1:n.*1237del
ENST00000646242.1:n.7461del
ENST00000646283.1:c.*313del	ENSP00000494537.1:n.*313del
ENST00000646401.1:n.2915del
ENST00000646856.1:c.*1425del	ENSP00000494505.1:n.*1425del
ENST00000647294.1:c.*1479del	ENSP00000494815.1:n.*1479del
ENST00000647508.1:c.*313del	ENSP00000496445.1:n.*313del
ENST00000647515.1:c.*1080del	ENSP00000495857.1:n.*1080del
ENST00000348513.10:c.*313del	ENSP00000323967.6:n.*313del
ENST00000431889.6:c.*313del	ENSP00000445370.1:n.*313del
ENST00000578112.5:c.*1346del	ENSP00000464501.1:n.*1346del
NM_003079.4:c.*313del	NP_003070.3:n.*313del
NM_003079.5:c.*313del MANE Select	NP_003070.3:n.*313del