Canonical Allele Identifier: CA2637750213

Gene: SMARCE1

Linked Data

• dbSNP Id: rs2037058900
• gnomAD v4: 17-40628729-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628735del , CM000679.2:g.40628735del	GRCh38
NC_000017.10:g.38784987del , CM000679.1:g.38784987del	GRCh37
NC_000017.9:g.36038513del	NCBI36
NG_032163.1:g.24122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*853del	ENSP00000466608.2:n.*853del
ENST00000348513.12:c.*55del MANE Select	ENSP00000323967.6:n.*55del
ENST00000377808.9:c.*278del	ENSP00000367039.4:n.*278del
ENST00000400122.8:c.*278del	ENSP00000411607.2:n.*278del
ENST00000469334.6:n.1889del
ENST00000578112.6:c.*1088del	ENSP00000464501.1:n.*1088del
ENST00000580419.6:c.*270del	ENSP00000462475.2:n.*270del
ENST00000642576.1:n.2434del
ENST00000643030.1:n.1914del
ENST00000643255.1:c.*3355del	ENSP00000493957.1:n.*3355del
ENST00000643318.1:c.*55del	ENSP00000494771.1:n.*55del
ENST00000643378.1:n.1846del
ENST00000643683.1:c.*55del	ENSP00000496094.1:n.*55del
ENST00000643893.1:n.1584del
ENST00000644443.1:n.3179del
ENST00000644523.1:n.1337del
ENST00000644527.1:c.*55del	ENSP00000493974.1:n.*55del
ENST00000644701.1:c.*278del	ENSP00000496097.1:n.*278del
ENST00000644909.1:c.*560del	ENSP00000493649.1:n.*560del
ENST00000645152.1:n.1954del
ENST00000645227.1:c.*979del	ENSP00000495021.1:n.*979del
ENST00000646242.1:n.7203del
ENST00000646283.1:c.*55del	ENSP00000494537.1:n.*55del
ENST00000646401.1:n.2657del
ENST00000646856.1:c.*1167del	ENSP00000494505.1:n.*1167del
ENST00000647294.1:c.*1221del	ENSP00000494815.1:n.*1221del
ENST00000647508.1:c.*55del	ENSP00000496445.1:n.*55del
ENST00000647515.1:c.*822del	ENSP00000495857.1:n.*822del
ENST00000348513.10:c.*55del	ENSP00000323967.6:n.*55del
ENST00000431889.6:c.*55del	ENSP00000445370.1:n.*55del
ENST00000469334.5:n.1878del
ENST00000578112.5:c.*1088del	ENSP00000464501.1:n.*1088del
NM_003079.4:c.*55del	NP_003070.3:n.*55del
NM_003079.5:c.*55del MANE Select	NP_003070.3:n.*55del