Canonical Allele Identifier: CA2637750236

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628835-C-CTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628838_40628840dup , CM000679.2:g.40628838_40628840dup	GRCh38
NC_000017.10:g.38785090_38785092dup , CM000679.1:g.38785090_38785092dup	GRCh37
NC_000017.9:g.36038616_36038618dup	NCBI36
NG_032163.1:g.24014_24016dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*745_*747dup	ENSP00000466608.2:n.*745_*747dup
ENST00000348513.12:c.1183_1185dup MANE Select	ENSP00000323967.6:p.Thr395_Val396insThr
ENST00000377808.9:c.*170_*172dup	ENSP00000367039.4:n.*170_*172dup
ENST00000400122.8:c.*170_*172dup	ENSP00000411607.2:n.*170_*172dup
ENST00000469334.6:n.1781_1783dup
ENST00000578044.6:c.973_975dup	ENSP00000464511.1:p.Thr325_Val326insThr
ENST00000578112.6:c.*980_*982dup	ENSP00000464501.1:n.*980_*982dup
ENST00000580419.6:c.*162_*164dup	ENSP00000462475.2:n.*162_*164dup
ENST00000642576.1:n.2326_2328dup
ENST00000643030.1:n.1806_1808dup
ENST00000643255.1:c.*3247_*3249dup	ENSP00000493957.1:n.*3247_*3249dup
ENST00000643318.1:c.973_975dup	ENSP00000494771.1:p.Thr325_Val326insThr
ENST00000643378.1:n.1738_1740dup
ENST00000643683.1:c.1183_1185dup	ENSP00000496094.1:p.Thr395_Val396insThr
ENST00000643893.1:n.1476_1478dup
ENST00000644443.1:n.3071_3073dup
ENST00000644523.1:n.1229_1231dup
ENST00000644527.1:c.955_957dup	ENSP00000493974.1:p.Thr319_Val320insThr
ENST00000644701.1:c.*170_*172dup	ENSP00000496097.1:n.*170_*172dup
ENST00000644909.1:c.*452_*454dup	ENSP00000493649.1:n.*452_*454dup
ENST00000645152.1:n.1846_1848dup
ENST00000645227.1:c.*871_*873dup	ENSP00000495021.1:n.*871_*873dup
ENST00000646242.1:n.7095_7097dup
ENST00000646283.1:c.991_993dup	ENSP00000494537.1:p.Thr331_Val332insThr
ENST00000646401.1:n.2549_2551dup
ENST00000646448.1:n.2457_2459dup
ENST00000646856.1:c.*1059_*1061dup	ENSP00000494505.1:n.*1059_*1061dup
ENST00000647294.1:c.*1113_*1115dup	ENSP00000494815.1:n.*1113_*1115dup
ENST00000647508.1:c.1078_1080dup	ENSP00000496445.1:p.Thr360_Val361insThr
ENST00000647515.1:c.*714_*716dup	ENSP00000495857.1:n.*714_*716dup
ENST00000348513.10:c.1183_1185dup	ENSP00000323967.6:p.Thr395_Val396insThr
ENST00000377808.8:c.*170_*172dup	ENSP00000367039.4:n.*170_*172dup
ENST00000400122.7:c.*170_*172dup	ENSP00000411607.2:n.*170_*172dup
ENST00000431889.6:c.1129_1131dup	ENSP00000445370.1:p.Thr377_Val378insThr
ENST00000469334.5:n.1770_1772dup
ENST00000476049.1:c.*1531_*1533dup	ENSP00000463483.1:n.*1531_*1533dup
ENST00000578044.5:c.973_975dup	ENSP00000464511.1:p.Thr325_Val326insThr
ENST00000578112.5:c.*980_*982dup	ENSP00000464501.1:n.*980_*982dup
ENST00000580419.5:c.1078_1080dup	ENSP00000462475.1:p.Thr360_Val361insThr
NM_003079.4:c.1183_1185dup	NP_003070.3:p.Thr395_Val396insThr
NM_003079.5:c.1183_1185dup MANE Select	NP_003070.3:p.Thr395_Val396insThr