Canonical Allele Identifier: CA983694689

Gene: SMARCE1

Linked Data

• dbSNP Id: rs2037057344
• gnomAD v3: 17-40628530-CAATT-C
• gnomAD v4: 17-40628530-CAATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628534_40628537del , CM000679.2:g.40628534_40628537del	GRCh38
NC_000017.10:g.38784786_38784789del , CM000679.1:g.38784786_38784789del	GRCh37
NC_000017.9:g.36038312_36038315del	NCBI36
NG_032163.1:g.24318_24321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1049_*1052del	ENSP00000466608.2:n.*1049_*1052del
ENST00000348513.12:c.*251_*254del MANE Select	ENSP00000323967.6:n.*251_*254del
ENST00000377808.9:c.*474_*477del	ENSP00000367039.4:n.*474_*477del
ENST00000400122.8:c.*474_*477del	ENSP00000411607.2:n.*474_*477del
ENST00000469334.6:n.2085_2088del
ENST00000578112.6:c.*1284_*1287del	ENSP00000464501.1:n.*1284_*1287del
ENST00000580419.6:c.*466_*469del	ENSP00000462475.2:n.*466_*469del
ENST00000642576.1:n.2630_2633del
ENST00000643030.1:n.2110_2113del
ENST00000643255.1:c.*3551_*3554del	ENSP00000493957.1:n.*3551_*3554del
ENST00000643318.1:c.*251_*254del	ENSP00000494771.1:n.*251_*254del
ENST00000643378.1:n.2042_2045del
ENST00000643683.1:c.*251_*254del	ENSP00000496094.1:n.*251_*254del
ENST00000643893.1:n.1780_1783del
ENST00000644443.1:n.3375_3378del
ENST00000644523.1:n.1533_1536del
ENST00000644527.1:c.*251_*254del	ENSP00000493974.1:n.*251_*254del
ENST00000644701.1:c.*474_*477del	ENSP00000496097.1:n.*474_*477del
ENST00000644909.1:c.*756_*759del	ENSP00000493649.1:n.*756_*759del
ENST00000645152.1:n.2150_2153del
ENST00000645227.1:c.*1175_*1178del	ENSP00000495021.1:n.*1175_*1178del
ENST00000646242.1:n.7399_7402del
ENST00000646283.1:c.*251_*254del	ENSP00000494537.1:n.*251_*254del
ENST00000646401.1:n.2853_2856del
ENST00000646856.1:c.*1363_*1366del	ENSP00000494505.1:n.*1363_*1366del
ENST00000647294.1:c.*1417_*1420del	ENSP00000494815.1:n.*1417_*1420del
ENST00000647508.1:c.*251_*254del	ENSP00000496445.1:n.*251_*254del
ENST00000647515.1:c.*1018_*1021del	ENSP00000495857.1:n.*1018_*1021del
ENST00000348513.10:c.*251_*254del	ENSP00000323967.6:n.*251_*254del
ENST00000431889.6:c.*251_*254del	ENSP00000445370.1:n.*251_*254del
ENST00000469334.5:n.2074_2077del
ENST00000578112.5:c.*1284_*1287del	ENSP00000464501.1:n.*1284_*1287del
NM_003079.4:c.*251_*254del	NP_003070.3:n.*251_*254del
NM_003079.5:c.*251_*254del MANE Select	NP_003070.3:n.*251_*254del