Canonical Allele Identifier: CA2637749980

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628407-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628411del , CM000679.2:g.40628411del	GRCh38
NC_000017.10:g.38784663del , CM000679.1:g.38784663del	GRCh37
NC_000017.9:g.36038189del	NCBI36
NG_032163.1:g.24444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1175del	ENSP00000466608.2:n.*1175del
ENST00000348513.12:c.*377del MANE Select	ENSP00000323967.6:n.*377del
ENST00000377808.9:c.*600del	ENSP00000367039.4:n.*600del
ENST00000400122.8:c.*600del	ENSP00000411607.2:n.*600del
ENST00000469334.6:n.2211del
ENST00000578112.6:c.*1410del	ENSP00000464501.1:n.*1410del
ENST00000580419.6:c.*592del	ENSP00000462475.2:n.*592del
ENST00000642576.1:n.2756del
ENST00000643030.1:n.2236del
ENST00000643255.1:c.*3677del	ENSP00000493957.1:n.*3677del
ENST00000643318.1:c.*377del	ENSP00000494771.1:n.*377del
ENST00000643378.1:n.2168del
ENST00000643683.1:c.*377del	ENSP00000496094.1:n.*377del
ENST00000643893.1:n.1906del
ENST00000644443.1:n.3501del
ENST00000644523.1:n.1659del
ENST00000644527.1:c.*377del	ENSP00000493974.1:n.*377del
ENST00000644701.1:c.*600del	ENSP00000496097.1:n.*600del
ENST00000644909.1:c.*882del	ENSP00000493649.1:n.*882del
ENST00000645152.1:n.2276del
ENST00000645227.1:c.*1301del	ENSP00000495021.1:n.*1301del
ENST00000646242.1:n.7525del
ENST00000646283.1:c.*377del	ENSP00000494537.1:n.*377del
ENST00000646401.1:n.2979del
ENST00000646856.1:c.*1489del	ENSP00000494505.1:n.*1489del
ENST00000647294.1:c.*1543del	ENSP00000494815.1:n.*1543del
ENST00000647508.1:c.*377del	ENSP00000496445.1:n.*377del
ENST00000647515.1:c.*1144del	ENSP00000495857.1:n.*1144del
ENST00000348513.10:c.*377del	ENSP00000323967.6:n.*377del
ENST00000578112.5:c.*1410del	ENSP00000464501.1:n.*1410del
NM_003079.4:c.*377del	NP_003070.3:n.*377del
NM_003079.5:c.*377del MANE Select	NP_003070.3:n.*377del