Canonical Allele Identifier: CA2500987866
Gene: SMARCE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40628798_40628799insTGT , CM000679.2:g.40628798_40628799insTGT GRCh38
NC_000017.10:g.38785050_38785051insTGT , CM000679.1:g.38785050_38785051insTGT GRCh37
NC_000017.9:g.36038576_36038577insTGT NCBI36
NG_032163.1:g.24054_24055insCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264640.9:c.*785_*786insCAA ENSP00000466608.2:n.*785_*786insCAA
ENST00000348513.12:c.1223_1224insCAA MANE Select ENSP00000323967.6:p.Glu408delinsAspLys
ENST00000377808.9:c.*210_*211insCAA ENSP00000367039.4:n.*210_*211insCAA
ENST00000400122.8:c.*210_*211insCAA ENSP00000411607.2:n.*210_*211insCAA
ENST00000469334.6:n.1821_1822insCAA
ENST00000578044.6:c.1013_1014insCAA ENSP00000464511.1:p.Glu338delinsAspLys
ENST00000578112.6:c.*1020_*1021insCAA ENSP00000464501.1:n.*1020_*1021insCAA
ENST00000580419.6:c.*202_*203insCAA ENSP00000462475.2:n.*202_*203insCAA
ENST00000642576.1:n.2366_2367insCAA
ENST00000643030.1:n.1846_1847insCAA
ENST00000643255.1:c.*3287_*3288insCAA ENSP00000493957.1:n.*3287_*3288insCAA
ENST00000643318.1:c.1013_1014insCAA ENSP00000494771.1:p.Glu338delinsAspLys
ENST00000643378.1:n.1778_1779insCAA
ENST00000643683.1:c.1223_1224insCAA ENSP00000496094.1:p.Glu408delinsAspLys
ENST00000643893.1:n.1516_1517insCAA
ENST00000644443.1:n.3111_3112insCAA
ENST00000644523.1:n.1269_1270insCAA
ENST00000644527.1:c.995_996insCAA ENSP00000493974.1:p.Glu332delinsAspLys
ENST00000644701.1:c.*210_*211insCAA ENSP00000496097.1:n.*210_*211insCAA
ENST00000644909.1:c.*492_*493insCAA ENSP00000493649.1:n.*492_*493insCAA
ENST00000645152.1:n.1886_1887insCAA
ENST00000645227.1:c.*911_*912insCAA ENSP00000495021.1:n.*911_*912insCAA
ENST00000646242.1:n.7135_7136insCAA
ENST00000646283.1:c.1031_1032insCAA ENSP00000494537.1:p.Glu344delinsAspLys
ENST00000646401.1:n.2589_2590insCAA
ENST00000646448.1:n.2497_2498insCAA
ENST00000646856.1:c.*1099_*1100insCAA ENSP00000494505.1:n.*1099_*1100insCAA
ENST00000647294.1:c.*1153_*1154insCAA ENSP00000494815.1:n.*1153_*1154insCAA
ENST00000647508.1:c.1118_1119insCAA ENSP00000496445.1:p.Glu373delinsAspLys
ENST00000647515.1:c.*754_*755insCAA ENSP00000495857.1:n.*754_*755insCAA
ENST00000348513.10:c.1223_1224insCAA ENSP00000323967.6:p.Glu408delinsAspLys
ENST00000377808.8:c.*210_*211insCAA ENSP00000367039.4:n.*210_*211insCAA
ENST00000400122.7:c.*210_*211insCAA ENSP00000411607.2:n.*210_*211insCAA
ENST00000431889.6:c.1169_1170insCAA ENSP00000445370.1:p.Glu390delinsAspLys
ENST00000469334.5:n.1810_1811insCAA
ENST00000476049.1:c.*1571_*1572insCAA ENSP00000463483.1:n.*1571_*1572insCAA
ENST00000578044.5:c.1013_1014insCAA ENSP00000464511.1:p.Glu338delinsAspLys
ENST00000578112.5:c.*1020_*1021insCAA ENSP00000464501.1:n.*1020_*1021insCAA
ENST00000580419.5:c.1118_1119insCAA ENSP00000462475.1:p.Glu373delinsAspLys
NM_003079.4:c.1223_1224insCAA NP_003070.3:p.Glu408delinsAspLys
NM_003079.5:c.1223_1224insCAA MANE Select NP_003070.3:p.Glu408delinsAspLys