Canonical Allele Identifier: CA2549601261

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628799_40628800insCAT , CM000679.2:g.40628799_40628800insCAT	GRCh38
NC_000017.10:g.38785051_38785052insCAT , CM000679.1:g.38785051_38785052insCAT	GRCh37
NC_000017.9:g.36038577_36038578insCAT	NCBI36
NG_032163.1:g.24052_24053insATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*783_*784insATG	ENSP00000466608.2:n.*783_*784insATG
ENST00000348513.12:c.1221_1222insATG MANE Select	ENSP00000323967.6:p.Asp407_Glu408insMet
ENST00000377808.9:c.*208_*209insATG	ENSP00000367039.4:n.*208_*209insATG
ENST00000400122.8:c.*208_*209insATG	ENSP00000411607.2:n.*208_*209insATG
ENST00000469334.6:n.1819_1820insATG
ENST00000578044.6:c.1011_1012insATG	ENSP00000464511.1:p.Asp337_Glu338insMet
ENST00000578112.6:c.*1018_*1019insATG	ENSP00000464501.1:n.*1018_*1019insATG
ENST00000580419.6:c.*200_*201insATG	ENSP00000462475.2:n.*200_*201insATG
ENST00000642576.1:n.2364_2365insATG
ENST00000643030.1:n.1844_1845insATG
ENST00000643255.1:c.*3285_*3286insATG	ENSP00000493957.1:n.*3285_*3286insATG
ENST00000643318.1:c.1011_1012insATG	ENSP00000494771.1:p.Asp337_Glu338insMet
ENST00000643378.1:n.1776_1777insATG
ENST00000643683.1:c.1221_1222insATG	ENSP00000496094.1:p.Asp407_Glu408insMet
ENST00000643893.1:n.1514_1515insATG
ENST00000644443.1:n.3109_3110insATG
ENST00000644523.1:n.1267_1268insATG
ENST00000644527.1:c.993_994insATG	ENSP00000493974.1:p.Asp331_Glu332insMet
ENST00000644701.1:c.*208_*209insATG	ENSP00000496097.1:n.*208_*209insATG
ENST00000644909.1:c.*490_*491insATG	ENSP00000493649.1:n.*490_*491insATG
ENST00000645152.1:n.1884_1885insATG
ENST00000645227.1:c.*909_*910insATG	ENSP00000495021.1:n.*909_*910insATG
ENST00000646242.1:n.7133_7134insATG
ENST00000646283.1:c.1029_1030insATG	ENSP00000494537.1:p.Asp343_Glu344insMet
ENST00000646401.1:n.2587_2588insATG
ENST00000646448.1:n.2495_2496insATG
ENST00000646856.1:c.*1097_*1098insATG	ENSP00000494505.1:n.*1097_*1098insATG
ENST00000647294.1:c.*1151_*1152insATG	ENSP00000494815.1:n.*1151_*1152insATG
ENST00000647508.1:c.1116_1117insATG	ENSP00000496445.1:p.Asp372_Glu373insMet
ENST00000647515.1:c.*752_*753insATG	ENSP00000495857.1:n.*752_*753insATG
ENST00000348513.10:c.1221_1222insATG	ENSP00000323967.6:p.Asp407_Glu408insMet
ENST00000377808.8:c.*208_*209insATG	ENSP00000367039.4:n.*208_*209insATG
ENST00000400122.7:c.*208_*209insATG	ENSP00000411607.2:n.*208_*209insATG
ENST00000431889.6:c.1167_1168insATG	ENSP00000445370.1:p.Asp389_Glu390insMet
ENST00000469334.5:n.1808_1809insATG
ENST00000476049.1:c.*1569_*1570insATG	ENSP00000463483.1:n.*1569_*1570insATG
ENST00000578044.5:c.1011_1012insATG	ENSP00000464511.1:p.Asp337_Glu338insMet
ENST00000578112.5:c.*1018_*1019insATG	ENSP00000464501.1:n.*1018_*1019insATG
ENST00000580419.5:c.1116_1117insATG	ENSP00000462475.1:p.Asp372_Glu373insMet
NM_003079.4:c.1221_1222insATG	NP_003070.3:p.Asp407_Glu408insMet
NM_003079.5:c.1221_1222insATG MANE Select	NP_003070.3:p.Asp407_Glu408insMet