Canonical Allele Identifier: CA2637750172

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628672-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628676_40628677del , CM000679.2:g.40628676_40628677del	GRCh38
NC_000017.10:g.38784928_38784929del , CM000679.1:g.38784928_38784929del	GRCh37
NC_000017.9:g.36038454_36038455del	NCBI36
NG_032163.1:g.24178_24179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*909_*910del	ENSP00000466608.2:n.*909_*910del
ENST00000348513.12:c.*111_*112del MANE Select	ENSP00000323967.6:n.*111_*112del
ENST00000377808.9:c.*334_*335del	ENSP00000367039.4:n.*334_*335del
ENST00000400122.8:c.*334_*335del	ENSP00000411607.2:n.*334_*335del
ENST00000469334.6:n.1945_1946del
ENST00000578112.6:c.*1144_*1145del	ENSP00000464501.1:n.*1144_*1145del
ENST00000580419.6:c.*326_*327del	ENSP00000462475.2:n.*326_*327del
ENST00000642576.1:n.2490_2491del
ENST00000643030.1:n.1970_1971del
ENST00000643255.1:c.*3411_*3412del	ENSP00000493957.1:n.*3411_*3412del
ENST00000643318.1:c.*111_*112del	ENSP00000494771.1:n.*111_*112del
ENST00000643378.1:n.1902_1903del
ENST00000643683.1:c.*111_*112del	ENSP00000496094.1:n.*111_*112del
ENST00000643893.1:n.1640_1641del
ENST00000644443.1:n.3235_3236del
ENST00000644523.1:n.1393_1394del
ENST00000644527.1:c.*111_*112del	ENSP00000493974.1:n.*111_*112del
ENST00000644701.1:c.*334_*335del	ENSP00000496097.1:n.*334_*335del
ENST00000644909.1:c.*616_*617del	ENSP00000493649.1:n.*616_*617del
ENST00000645152.1:n.2010_2011del
ENST00000645227.1:c.*1035_*1036del	ENSP00000495021.1:n.*1035_*1036del
ENST00000646242.1:n.7259_7260del
ENST00000646283.1:c.*111_*112del	ENSP00000494537.1:n.*111_*112del
ENST00000646401.1:n.2713_2714del
ENST00000646856.1:c.*1223_*1224del	ENSP00000494505.1:n.*1223_*1224del
ENST00000647294.1:c.*1277_*1278del	ENSP00000494815.1:n.*1277_*1278del
ENST00000647508.1:c.*111_*112del	ENSP00000496445.1:n.*111_*112del
ENST00000647515.1:c.*878_*879del	ENSP00000495857.1:n.*878_*879del
ENST00000348513.10:c.*111_*112del	ENSP00000323967.6:n.*111_*112del
ENST00000431889.6:c.*111_*112del	ENSP00000445370.1:n.*111_*112del
ENST00000469334.5:n.1934_1935del
ENST00000578112.5:c.*1144_*1145del	ENSP00000464501.1:n.*1144_*1145del
NM_003079.4:c.*111_*112del	NP_003070.3:n.*111_*112del
NM_003079.5:c.*111_*112del MANE Select	NP_003070.3:n.*111_*112del