Canonical Allele Identifier: CA2259640345

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628377_40628379delinsCAA , CM000679.2:g.40628377_40628379delinsCAA	GRCh38
NC_000017.10:g.38784629_38784631delinsCAA , CM000679.1:g.38784629_38784631delinsCAA	GRCh37
NC_000017.9:g.36038155_36038157delinsCAA	NCBI36
NG_032163.1:g.24473_24475delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1204_*1206delinsTTG	ENSP00000466608.2:n.*1204_*1206delinsTTG
ENST00000348513.12:c.*406_*408delinsTTG MANE Select	ENSP00000323967.6:n.*406_*408delinsTTG
ENST00000377808.9:c.*629_*631delinsTTG	ENSP00000367039.4:n.*629_*631delinsTTG
ENST00000400122.8:c.*629_*631delinsTTG	ENSP00000411607.2:n.*629_*631delinsTTG
ENST00000469334.6:n.2240_2242delinsTTG
ENST00000578112.6:c.*1439_*1441delinsTTG	ENSP00000464501.1:n.*1439_*1441delinsTTG
ENST00000580419.6:c.*621_*623delinsTTG	ENSP00000462475.2:n.*621_*623delinsTTG
ENST00000642576.1:n.2785_2787delinsTTG
ENST00000643030.1:n.2265_2267delinsTTG
ENST00000643255.1:c.*3706_*3708delinsTTG	ENSP00000493957.1:n.*3706_*3708delinsTTG
ENST00000643318.1:c.*406_*408delinsTTG	ENSP00000494771.1:n.*406_*408delinsTTG
ENST00000643378.1:n.2197_2199delinsTTG
ENST00000643683.1:c.*406_*408delinsTTG	ENSP00000496094.1:n.*406_*408delinsTTG
ENST00000643893.1:n.1935_1937delinsTTG
ENST00000644443.1:n.3530_3532delinsTTG
ENST00000644523.1:n.1688_1690delinsTTG
ENST00000644527.1:c.*406_*408delinsTTG	ENSP00000493974.1:n.*406_*408delinsTTG
ENST00000644701.1:c.*629_*631delinsTTG	ENSP00000496097.1:n.*629_*631delinsTTG
ENST00000644909.1:c.*911_*913delinsTTG	ENSP00000493649.1:n.*911_*913delinsTTG
ENST00000645152.1:n.2305_2307delinsTTG
ENST00000645227.1:c.*1330_*1332delinsTTG	ENSP00000495021.1:n.*1330_*1332delinsTTG
ENST00000646242.1:n.7554_7556delinsTTG
ENST00000646283.1:c.*406_*408delinsTTG	ENSP00000494537.1:n.*406_*408delinsTTG
ENST00000646401.1:n.3008_3010delinsTTG
ENST00000646856.1:c.*1518_*1520delinsTTG	ENSP00000494505.1:n.*1518_*1520delinsTTG
ENST00000647294.1:c.*1572_*1574delinsTTG	ENSP00000494815.1:n.*1572_*1574delinsTTG
ENST00000647508.1:c.*406_*408delinsTTG	ENSP00000496445.1:n.*406_*408delinsTTG
ENST00000647515.1:c.*1173_*1175delinsTTG	ENSP00000495857.1:n.*1173_*1175delinsTTG
ENST00000348513.10:c.*406_*408delinsTTG	ENSP00000323967.6:n.*406_*408delinsTTG
ENST00000578112.5:c.*1439_*1441delinsTTG	ENSP00000464501.1:n.*1439_*1441delinsTTG
NM_003079.4:c.*406_*408delinsTTG	NP_003070.3:n.*406_*408delinsTTG
NM_003079.5:c.*406_*408delinsTTG MANE Select	NP_003070.3:n.*406_*408delinsTTG