Canonical Allele Identifier: CA771947556

Gene: SMARCE1

Linked Data

• dbSNP Id: rs1231679406
• gnomAD v4: 17-40628381-AGAG-A
• MyVariant Identifiers: chr17:g.38784634_38784636del (hg19) ; chr17:g.40628382_40628384del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628385_40628387del , CM000679.2:g.40628385_40628387del	GRCh38
NC_000017.10:g.38784637_38784639del , CM000679.1:g.38784637_38784639del	GRCh37
NC_000017.9:g.36038163_36038165del	NCBI36
NG_032163.1:g.24468_24470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1199_*1201del	ENSP00000466608.2:n.*1199_*1201del
ENST00000348513.12:c.*401_*403del MANE Select	ENSP00000323967.6:n.*401_*403del
ENST00000377808.9:c.*624_*626del	ENSP00000367039.4:n.*624_*626del
ENST00000400122.8:c.*624_*626del	ENSP00000411607.2:n.*624_*626del
ENST00000469334.6:n.2235_2237del
ENST00000578112.6:c.*1434_*1436del	ENSP00000464501.1:n.*1434_*1436del
ENST00000580419.6:c.*616_*618del	ENSP00000462475.2:n.*616_*618del
ENST00000642576.1:n.2780_2782del
ENST00000643030.1:n.2260_2262del
ENST00000643255.1:c.*3701_*3703del	ENSP00000493957.1:n.*3701_*3703del
ENST00000643318.1:c.*401_*403del	ENSP00000494771.1:n.*401_*403del
ENST00000643378.1:n.2192_2194del
ENST00000643683.1:c.*401_*403del	ENSP00000496094.1:n.*401_*403del
ENST00000643893.1:n.1930_1932del
ENST00000644443.1:n.3525_3527del
ENST00000644523.1:n.1683_1685del
ENST00000644527.1:c.*401_*403del	ENSP00000493974.1:n.*401_*403del
ENST00000644701.1:c.*624_*626del	ENSP00000496097.1:n.*624_*626del
ENST00000644909.1:c.*906_*908del	ENSP00000493649.1:n.*906_*908del
ENST00000645152.1:n.2300_2302del
ENST00000645227.1:c.*1325_*1327del	ENSP00000495021.1:n.*1325_*1327del
ENST00000646242.1:n.7549_7551del
ENST00000646283.1:c.*401_*403del	ENSP00000494537.1:n.*401_*403del
ENST00000646401.1:n.3003_3005del
ENST00000646856.1:c.*1513_*1515del	ENSP00000494505.1:n.*1513_*1515del
ENST00000647294.1:c.*1567_*1569del	ENSP00000494815.1:n.*1567_*1569del
ENST00000647508.1:c.*401_*403del	ENSP00000496445.1:n.*401_*403del
ENST00000647515.1:c.*1168_*1170del	ENSP00000495857.1:n.*1168_*1170del
ENST00000348513.10:c.*401_*403del	ENSP00000323967.6:n.*401_*403del
ENST00000578112.5:c.*1434_*1436del	ENSP00000464501.1:n.*1434_*1436del
NM_003079.4:c.*401_*403del	NP_003070.3:n.*401_*403del
NM_003079.5:c.*401_*403del MANE Select	NP_003070.3:n.*401_*403del