Canonical Allele Identifier: CA645615097

Gene: SMARCB1

Linked Data

• COSMIC: COSM33986

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793624_23793625del , CM000684.2:g.23793624_23793625del	GRCh38
NC_000022.10:g.24135811_24135812del , CM000684.1:g.24135811_24135812del	GRCh37
NC_000022.9:g.22465811_22465812del	NCBI36
NG_009303.1:g.11662_11663del , LRG_520:g.11662_11663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.298_299del	ENSP00000263121.8:p.Leu100GlyfsTer5
ENST00000344921.11:c.271_272del	ENSP00000340883.6:p.Leu91GlyfsTer5
ENST00000407082.4:c.271_272del	ENSP00000385226.4:p.Leu91GlyfsTer5
ENST00000407422.8:c.271_272del	ENSP00000383984.3:p.Leu91GlyfsTer5
ENST00000417137.6:c.298_299del	ENSP00000388489.2:p.Leu100GlyfsTer5
ENST00000491967.2:n.461_462del
ENST00000643421.1:n.266_267del
ENST00000644036.2:c.298_299del MANE Select	ENSP00000494049.2:p.Leu100GlyfsTer5
ENST00000644462.1:c.133_134del	ENSP00000494283.1:p.Leu45GlyfsTer5
ENST00000644619.1:c.298_299del	ENSP00000494695.1:p.Leu100GlyfsTer5
ENST00000646421.1:n.2154_2155del
ENST00000646723.1:n.286_287del
ENST00000646911.1:n.210_211del
ENST00000647057.1:c.93+6362_93+6363del	ENSP00000494757.1:n.93+6362_93+6363del
ENST00000263121.11:c.298_299del	ENSP00000263121.7:p.Leu100GlyfsTer5
ENST00000344921.10:c.271_272del	ENSP00000340883.6:p.Leu91GlyfsTer5
ENST00000407082.3:c.298_299del	ENSP00000385226.3:p.Leu100GlyfsTer5
ENST00000407422.7:c.271_272del	ENSP00000383984.3:p.Leu91GlyfsTer5
ENST00000417137.5:c.298_299del	ENSP00000388489.1:p.Leu100GlyfsTer5
ENST00000491967.1:n.24_25del
ENST00000634926.1:c.150_151del
ENST00000635578.1:c.123_124del
NM_001007468.1:c.271_272del	NP_001007469.1:p.Leu91GlyfsTer5
NM_003073.3:c.298_299del , LRG_520t1:c.298_299del	NP_003064.2:p.Leu100GlyfsTer5
XM_011530345.1:c.298_299del	XP_011528647.1:p.Leu100GlyfsTer5
XM_011530346.1:c.271_272del	XP_011528648.1:p.Leu91GlyfsTer5
NM_001007468.2:c.271_272del	NP_001007469.1:p.Leu91GlyfsTer5
NM_001317946.1:c.271_272del	NP_001304875.1:p.Leu91GlyfsTer5
NM_001362877.1:c.298_299del	NP_001349806.1:p.Leu100GlyfsTer5
NM_003073.4:c.298_299del	NP_003064.2:p.Leu100GlyfsTer5
NM_001007468.3:c.271_272del	NP_001007469.1:p.Leu91GlyfsTer5
NM_001317946.2:c.271_272del	NP_001304875.1:p.Leu91GlyfsTer5
NM_001362877.2:c.298_299del	NP_001349806.1:p.Leu100GlyfsTer5
NM_003073.5:c.298_299del MANE Select	NP_003064.2:p.Leu100GlyfsTer5