Canonical Allele Identifier: CA2637750061

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628546-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628548_40628549del , CM000679.2:g.40628548_40628549del	GRCh38
NC_000017.10:g.38784800_38784801del , CM000679.1:g.38784800_38784801del	GRCh37
NC_000017.9:g.36038326_36038327del	NCBI36
NG_032163.1:g.24304_24305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1035_*1036del	ENSP00000466608.2:n.*1035_*1036del
ENST00000348513.12:c.*237_*238del MANE Select	ENSP00000323967.6:n.*237_*238del
ENST00000377808.9:c.*460_*461del	ENSP00000367039.4:n.*460_*461del
ENST00000400122.8:c.*460_*461del	ENSP00000411607.2:n.*460_*461del
ENST00000469334.6:n.2071_2072del
ENST00000578112.6:c.*1270_*1271del	ENSP00000464501.1:n.*1270_*1271del
ENST00000580419.6:c.*452_*453del	ENSP00000462475.2:n.*452_*453del
ENST00000642576.1:n.2616_2617del
ENST00000643030.1:n.2096_2097del
ENST00000643255.1:c.*3537_*3538del	ENSP00000493957.1:n.*3537_*3538del
ENST00000643318.1:c.*237_*238del	ENSP00000494771.1:n.*237_*238del
ENST00000643378.1:n.2028_2029del
ENST00000643683.1:c.*237_*238del	ENSP00000496094.1:n.*237_*238del
ENST00000643893.1:n.1766_1767del
ENST00000644443.1:n.3361_3362del
ENST00000644523.1:n.1519_1520del
ENST00000644527.1:c.*237_*238del	ENSP00000493974.1:n.*237_*238del
ENST00000644701.1:c.*460_*461del	ENSP00000496097.1:n.*460_*461del
ENST00000644909.1:c.*742_*743del	ENSP00000493649.1:n.*742_*743del
ENST00000645152.1:n.2136_2137del
ENST00000645227.1:c.*1161_*1162del	ENSP00000495021.1:n.*1161_*1162del
ENST00000646242.1:n.7385_7386del
ENST00000646283.1:c.*237_*238del	ENSP00000494537.1:n.*237_*238del
ENST00000646401.1:n.2839_2840del
ENST00000646856.1:c.*1349_*1350del	ENSP00000494505.1:n.*1349_*1350del
ENST00000647294.1:c.*1403_*1404del	ENSP00000494815.1:n.*1403_*1404del
ENST00000647508.1:c.*237_*238del	ENSP00000496445.1:n.*237_*238del
ENST00000647515.1:c.*1004_*1005del	ENSP00000495857.1:n.*1004_*1005del
ENST00000348513.10:c.*237_*238del	ENSP00000323967.6:n.*237_*238del
ENST00000431889.6:c.*237_*238del	ENSP00000445370.1:n.*237_*238del
ENST00000469334.5:n.2060_2061del
ENST00000578112.5:c.*1270_*1271del	ENSP00000464501.1:n.*1270_*1271del
NM_003079.4:c.*237_*238del	NP_003070.3:n.*237_*238del
NM_003079.5:c.*237_*238del MANE Select	NP_003070.3:n.*237_*238del