Canonical Allele Identifier: CA2695230553

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833681del , CM000684.2:g.23833681del	GRCh38
NC_000022.10:g.24175868del , CM000684.1:g.24175868del	GRCh37
NC_000022.9:g.22505868del	NCBI36
NG_009303.1:g.51719del , LRG_520:g.51719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.958del	ENSP00000263121.8:p.Arg320AlafsTer10
ENST00000344921.11:c.1123del	ENSP00000340883.6:p.Arg375AlafsTer10
ENST00000407422.8:c.1069del	ENSP00000383984.3:p.Arg357AlafsTer10
ENST00000644036.2:c.1096del MANE Select	ENSP00000494049.2:p.Arg366AlafsTer10
ENST00000644462.1:c.1814del	ENSP00000494283.1:n.1814del
ENST00000645799.1:n.2418del
ENST00000646723.1:n.3442del
ENST00000647057.1:c.*590del	ENSP00000494757.1:n.*590del
ENST00000263121.11:c.1096del	ENSP00000263121.7:p.Arg366AlafsTer10
ENST00000344921.10:c.1123del	ENSP00000340883.6:p.Arg375AlafsTer10
ENST00000407082.3:c.958del	ENSP00000385226.3:p.Arg320AlafsTer10
ENST00000407422.7:c.1069del	ENSP00000383984.3:p.Arg357AlafsTer10
NM_001007468.1:c.1069del	NP_001007469.1:p.Arg357AlafsTer10
NM_003073.3:c.1096del , LRG_520t1:c.1096del	NP_003064.2:p.Arg366AlafsTer10
XM_011530345.1:c.1150del	XP_011528647.1:p.Arg384AlafsTer10
XM_011530346.1:c.1123del	XP_011528648.1:p.Arg375AlafsTer10
NM_001007468.2:c.1069del	NP_001007469.1:p.Arg357AlafsTer10
NM_001317946.1:c.1123del	NP_001304875.1:p.Arg375AlafsTer10
NM_001362877.1:c.1150del	NP_001349806.1:p.Arg384AlafsTer10
NM_003073.4:c.1096del	NP_003064.2:p.Arg366AlafsTer10
NM_001007468.3:c.1069del	NP_001007469.1:p.Arg357AlafsTer10
NM_001317946.2:c.1123del	NP_001304875.1:p.Arg375AlafsTer10
NM_001362877.2:c.1150del	NP_001349806.1:p.Arg384AlafsTer10
NM_003073.5:c.1096del MANE Select	NP_003064.2:p.Arg366AlafsTer10