Canonical Allele Identifier: CA2397980967

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833648_23833650delinsACT , CM000684.2:g.23833648_23833650delinsACT	GRCh38
NC_000022.10:g.24175835_24175837delinsACT , CM000684.1:g.24175835_24175837delinsACT	GRCh37
NC_000022.9:g.22505835_22505837delinsACT	NCBI36
NG_009303.1:g.51686_51688delinsACT , LRG_520:g.51686_51688delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.925_927delinsACT	ENSP00000263121.8:p.Thr309=
ENST00000344921.11:c.1090_1092delinsACT	ENSP00000340883.6:p.Thr364=
ENST00000407422.8:c.1036_1038delinsACT	ENSP00000383984.3:p.Thr346=
ENST00000644036.2:c.1063_1065delinsACT MANE Select	ENSP00000494049.2:p.Thr355=
ENST00000644462.1:c.1781_1783delinsACT	ENSP00000494283.1:n.1781_1783delinsACT
ENST00000645799.1:n.2385_2387delinsACT
ENST00000646723.1:n.3409_3411delinsACT
ENST00000647057.1:c.*557_*559delinsACT	ENSP00000494757.1:n.*557_*559delinsACT
ENST00000263121.11:c.1063_1065delinsACT	ENSP00000263121.7:p.Thr355=
ENST00000344921.10:c.1090_1092delinsACT	ENSP00000340883.6:p.Thr364=
ENST00000407082.3:c.925_927delinsACT	ENSP00000385226.3:p.Thr309=
ENST00000407422.7:c.1036_1038delinsACT	ENSP00000383984.3:p.Thr346=
NM_001007468.1:c.1036_1038delinsACT	NP_001007469.1:p.Thr346=
NM_003073.3:c.1063_1065delinsACT , LRG_520t1:c.1063_1065delinsACT	NP_003064.2:p.Thr355=
XM_011530345.1:c.1117_1119delinsACT	XP_011528647.1:p.Thr373=
XM_011530346.1:c.1090_1092delinsACT	XP_011528648.1:p.Thr364=
NM_001007468.2:c.1036_1038delinsACT	NP_001007469.1:p.Thr346=
NM_001317946.1:c.1090_1092delinsACT	NP_001304875.1:p.Thr364=
NM_001362877.1:c.1117_1119delinsACT	NP_001349806.1:p.Thr373=
NM_003073.4:c.1063_1065delinsACT	NP_003064.2:p.Thr355=
NM_001007468.3:c.1036_1038delinsACT	NP_001007469.1:p.Thr346=
NM_001317946.2:c.1090_1092delinsACT	NP_001304875.1:p.Thr364=
NM_001362877.2:c.1117_1119delinsACT	NP_001349806.1:p.Thr373=
NM_003073.5:c.1063_1065delinsACT MANE Select	NP_003064.2:p.Thr355=