Canonical Allele Identifier: CA771947547

Gene: SMARCE1

Linked Data

• dbSNP Id: rs1272959350
• MyVariant Identifiers: chr17:g.38784620del (hg19) ; chr17:g.40628368del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628368del , CM000679.2:g.40628368del	GRCh38
NC_000017.10:g.38784620del , CM000679.1:g.38784620del	GRCh37
NC_000017.9:g.36038146del	NCBI36
NG_032163.1:g.24484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1215del	ENSP00000466608.2:n.*1215del
ENST00000348513.12:c.*417del MANE Select	ENSP00000323967.6:n.*417del
ENST00000377808.9:c.*640del	ENSP00000367039.4:n.*640del
ENST00000400122.8:c.*640del	ENSP00000411607.2:n.*640del
ENST00000469334.6:n.2251del
ENST00000578112.6:c.*1450del	ENSP00000464501.1:n.*1450del
ENST00000580419.6:c.*632del	ENSP00000462475.2:n.*632del
ENST00000642576.1:n.2796del
ENST00000643030.1:n.2276del
ENST00000643255.1:c.*3717del	ENSP00000493957.1:n.*3717del
ENST00000643318.1:c.*417del	ENSP00000494771.1:n.*417del
ENST00000643378.1:n.2208del
ENST00000643683.1:c.*417del	ENSP00000496094.1:n.*417del
ENST00000643893.1:n.1946del
ENST00000644443.1:n.3541del
ENST00000644523.1:n.1699del
ENST00000644527.1:c.*417del	ENSP00000493974.1:n.*417del
ENST00000644701.1:c.*640del	ENSP00000496097.1:n.*640del
ENST00000644909.1:c.*922del	ENSP00000493649.1:n.*922del
ENST00000645152.1:n.2316del
ENST00000645227.1:c.*1341del	ENSP00000495021.1:n.*1341del
ENST00000646242.1:n.7565del
ENST00000646283.1:c.*417del	ENSP00000494537.1:n.*417del
ENST00000646401.1:n.3019del
ENST00000646856.1:c.*1529del	ENSP00000494505.1:n.*1529del
ENST00000647294.1:c.*1583del	ENSP00000494815.1:n.*1583del
ENST00000647508.1:c.*417del	ENSP00000496445.1:n.*417del
ENST00000647515.1:c.*1184del	ENSP00000495857.1:n.*1184del
ENST00000348513.10:c.*417del	ENSP00000323967.6:n.*417del
ENST00000578112.5:c.*1450del	ENSP00000464501.1:n.*1450del
NM_003079.4:c.*417del	NP_003070.3:n.*417del
NM_003079.5:c.*417del MANE Select	NP_003070.3:n.*417del