Canonical Allele Identifier: CA8545032

Gene: SMARCE1

Linked Data

• dbSNP Id: rs776905514
• ExAC: 17:38784987 AC / A
• gnomAD v2: 17-38784987-AC-A
• gnomAD v3: 17-40628735-AC-A
• gnomAD v4: 17-40628735-AC-A
• MyVariant Identifiers: chr17:g.38784988del (hg19) ; chr17:g.40628736del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628736del , CM000679.2:g.40628736del	GRCh38
NC_000017.10:g.38784988del , CM000679.1:g.38784988del	GRCh37
NC_000017.9:g.36038514del	NCBI36
NG_032163.1:g.24116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*847del	ENSP00000466608.2:n.*847del
ENST00000348513.12:c.*49del MANE Select	ENSP00000323967.6:n.*49del
ENST00000377808.9:c.*272del	ENSP00000367039.4:n.*272del
ENST00000400122.8:c.*272del	ENSP00000411607.2:n.*272del
ENST00000469334.6:n.1883del
ENST00000578112.6:c.*1082del	ENSP00000464501.1:n.*1082del
ENST00000580419.6:c.*264del	ENSP00000462475.2:n.*264del
ENST00000642576.1:n.2428del
ENST00000643030.1:n.1908del
ENST00000643255.1:c.*3349del	ENSP00000493957.1:n.*3349del
ENST00000643318.1:c.*49del	ENSP00000494771.1:n.*49del
ENST00000643378.1:n.1840del
ENST00000643683.1:c.*49del	ENSP00000496094.1:n.*49del
ENST00000643893.1:n.1578del
ENST00000644443.1:n.3173del
ENST00000644523.1:n.1331del
ENST00000644527.1:c.*49del	ENSP00000493974.1:n.*49del
ENST00000644701.1:c.*272del	ENSP00000496097.1:n.*272del
ENST00000644909.1:c.*554del	ENSP00000493649.1:n.*554del
ENST00000645152.1:n.1948del
ENST00000645227.1:c.*973del	ENSP00000495021.1:n.*973del
ENST00000646242.1:n.7197del
ENST00000646283.1:c.*49del	ENSP00000494537.1:n.*49del
ENST00000646401.1:n.2651del
ENST00000646856.1:c.*1161del	ENSP00000494505.1:n.*1161del
ENST00000647294.1:c.*1215del	ENSP00000494815.1:n.*1215del
ENST00000647508.1:c.*49del	ENSP00000496445.1:n.*49del
ENST00000647515.1:c.*816del	ENSP00000495857.1:n.*816del
ENST00000348513.10:c.*49del	ENSP00000323967.6:n.*49del
ENST00000431889.6:c.*49del	ENSP00000445370.1:n.*49del
ENST00000469334.5:n.1872del
ENST00000578112.5:c.*1082del	ENSP00000464501.1:n.*1082del
NM_003079.4:c.*49del	NP_003070.3:n.*49del
NM_003079.5:c.*49del MANE Select	NP_003070.3:n.*49del