Canonical Allele Identifier: CA2259640496
Gene: SMARCE1 HGNC NCBI

Linked Data

dbSNP Id: rs2037059542

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40628779del , CM000679.2:g.40628779del GRCh38
NC_000017.10:g.38785031del , CM000679.1:g.38785031del GRCh37
NC_000017.9:g.36038557del NCBI36
NG_032163.1:g.24073del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264640.9:c.*804del ENSP00000466608.2:n.*804del
ENST00000348513.12:c.*6del MANE Select ENSP00000323967.6:n.*6del
ENST00000377808.9:c.*229del ENSP00000367039.4:n.*229del
ENST00000400122.8:c.*229del ENSP00000411607.2:n.*229del
ENST00000469334.6:n.1840del
ENST00000578112.6:c.*1039del ENSP00000464501.1:n.*1039del
ENST00000580419.6:c.*221del ENSP00000462475.2:n.*221del
ENST00000642576.1:n.2385del
ENST00000643030.1:n.1865del
ENST00000643255.1:c.*3306del ENSP00000493957.1:n.*3306del
ENST00000643318.1:c.*6del ENSP00000494771.1:n.*6del
ENST00000643378.1:n.1797del
ENST00000643683.1:c.*6del ENSP00000496094.1:n.*6del
ENST00000643893.1:n.1535del
ENST00000644443.1:n.3130del
ENST00000644523.1:n.1288del
ENST00000644527.1:c.*6del ENSP00000493974.1:n.*6del
ENST00000644701.1:c.*229del ENSP00000496097.1:n.*229del
ENST00000644909.1:c.*511del ENSP00000493649.1:n.*511del
ENST00000645152.1:n.1905del
ENST00000645227.1:c.*930del ENSP00000495021.1:n.*930del
ENST00000646242.1:n.7154del
ENST00000646283.1:c.*6del ENSP00000494537.1:n.*6del
ENST00000646401.1:n.2608del
ENST00000646448.1:n.2516del
ENST00000646856.1:c.*1118del ENSP00000494505.1:n.*1118del
ENST00000647294.1:c.*1172del ENSP00000494815.1:n.*1172del
ENST00000647508.1:c.*6del ENSP00000496445.1:n.*6del
ENST00000647515.1:c.*773del ENSP00000495857.1:n.*773del
ENST00000348513.10:c.*6del ENSP00000323967.6:n.*6del
ENST00000377808.8:c.*229del ENSP00000367039.4:n.*229del
ENST00000400122.7:c.*229del ENSP00000411607.2:n.*229del
ENST00000431889.6:c.*6del ENSP00000445370.1:n.*6del
ENST00000469334.5:n.1829del
ENST00000578044.5:c.*6del ENSP00000464511.1:n.*6del
ENST00000578112.5:c.*1039del ENSP00000464501.1:n.*1039del
ENST00000580419.5:c.*6del ENSP00000462475.1:n.*6del
NM_003079.4:c.*6del NP_003070.3:n.*6del
NM_003079.5:c.*6del MANE Select NP_003070.3:n.*6del