Canonical Allele Identifier: CA645615102

Gene: SMARCB1

Linked Data

• COSMIC: COSM29384

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793683_23793687del , CM000684.2:g.23793683_23793687del	GRCh38
NC_000022.10:g.24135870_24135874del , CM000684.1:g.24135870_24135874del	GRCh37
NC_000022.9:g.22465870_22465874del	NCBI36
NG_009303.1:g.11721_11725del , LRG_520:g.11721_11725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.357_361del	ENSP00000263121.8:p.Tyr119Ter
ENST00000344921.11:c.330_334del	ENSP00000340883.6:p.Tyr110Ter
ENST00000407082.4:c.330_334del	ENSP00000385226.4:p.Tyr110Ter
ENST00000407422.8:c.330_334del	ENSP00000383984.3:p.Tyr110Ter
ENST00000417137.6:c.357_361del	ENSP00000388489.2:p.Tyr119Ter
ENST00000491967.2:n.520_524del
ENST00000643421.1:n.325_329del
ENST00000644036.2:c.357_361del MANE Select	ENSP00000494049.2:p.Tyr119Ter
ENST00000644462.1:c.192_196del	ENSP00000494283.1:p.Tyr64Ter
ENST00000644619.1:c.357_361del	ENSP00000494695.1:p.Tyr119Ter
ENST00000646421.1:n.2213_2217del
ENST00000646723.1:n.345_349del
ENST00000646911.1:n.269_273del
ENST00000647057.1:c.93+6421_93+6425del	ENSP00000494757.1:n.93+6421_93+6425del
ENST00000263121.11:c.357_361del	ENSP00000263121.7:p.Tyr119Ter
ENST00000344921.10:c.330_334del	ENSP00000340883.6:p.Tyr110Ter
ENST00000407082.3:c.357_361del	ENSP00000385226.3:p.Tyr119Ter
ENST00000407422.7:c.330_334del	ENSP00000383984.3:p.Tyr110Ter
ENST00000417137.5:c.357_361del	ENSP00000388489.1:p.Tyr119Ter
ENST00000491967.1:n.83_87del
ENST00000634926.1:c.209_213del
ENST00000635578.1:c.182_186del
NM_001007468.1:c.330_334del	NP_001007469.1:p.Tyr110Ter
NM_003073.3:c.357_361del , LRG_520t1:c.357_361del	NP_003064.2:p.Tyr119Ter
XM_011530345.1:c.357_361del	XP_011528647.1:p.Tyr119Ter
XM_011530346.1:c.330_334del	XP_011528648.1:p.Tyr110Ter
NM_001007468.2:c.330_334del	NP_001007469.1:p.Tyr110Ter
NM_001317946.1:c.330_334del	NP_001304875.1:p.Tyr110Ter
NM_001362877.1:c.357_361del	NP_001349806.1:p.Tyr119Ter
NM_003073.4:c.357_361del	NP_003064.2:p.Tyr119Ter
NM_001007468.3:c.330_334del	NP_001007469.1:p.Tyr110Ter
NM_001317946.2:c.330_334del	NP_001304875.1:p.Tyr110Ter
NM_001362877.2:c.357_361del	NP_001349806.1:p.Tyr119Ter
NM_003073.5:c.357_361del MANE Select	NP_003064.2:p.Tyr119Ter