Canonical Allele Identifier: CA645615099

Gene: SMARCB1

Linked Data

• COSMIC: COSM6006426

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793656_23793657dup , CM000684.2:g.23793656_23793657dup	GRCh38
NC_000022.10:g.24135843_24135844dup , CM000684.1:g.24135843_24135844dup	GRCh37
NC_000022.9:g.22465843_22465844dup	NCBI36
NG_009303.1:g.11694_11695dup , LRG_520:g.11694_11695dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.330_331dup	ENSP00000263121.8:p.Ser111CysfsTer20
ENST00000344921.11:c.303_304dup	ENSP00000340883.6:p.Ser102CysfsTer?
ENST00000407082.4:c.303_304dup	ENSP00000385226.4:p.Ser102CysfsTer20
ENST00000407422.8:c.303_304dup	ENSP00000383984.3:p.Ser102CysfsTer?
ENST00000417137.6:c.330_331dup	ENSP00000388489.2:p.Ser111CysfsTer?
ENST00000491967.2:n.493_494dup
ENST00000643421.1:n.298_299dup
ENST00000644036.2:c.330_331dup MANE Select	ENSP00000494049.2:p.Ser111CysfsTer?
ENST00000644462.1:c.165_166dup	ENSP00000494283.1:p.Ser56CysfsTer?
ENST00000644619.1:c.330_331dup	ENSP00000494695.1:p.Ser111CysfsTer?
ENST00000646421.1:n.2186_2187dup
ENST00000646723.1:n.318_319dup
ENST00000646911.1:n.242_243dup
ENST00000647057.1:c.93+6394_93+6395dup	ENSP00000494757.1:n.93+6394_93+6395dup
ENST00000263121.11:c.330_331dup	ENSP00000263121.7:p.Ser111CysfsTer?
ENST00000344921.10:c.303_304dup	ENSP00000340883.6:p.Ser102CysfsTer?
ENST00000407082.3:c.330_331dup	ENSP00000385226.3:p.Ser111CysfsTer20
ENST00000407422.7:c.303_304dup	ENSP00000383984.3:p.Ser102CysfsTer?
ENST00000417137.5:c.330_331dup	ENSP00000388489.1:p.Ser111CysfsTer?
ENST00000491967.1:n.56_57dup
ENST00000634926.1:c.182_183dup
ENST00000635578.1:c.155_156dup
NM_001007468.1:c.303_304dup	NP_001007469.1:p.Ser102CysfsTer?
NM_003073.3:c.330_331dup , LRG_520t1:c.330_331dup	NP_003064.2:p.Ser111CysfsTer?
XM_011530345.1:c.330_331dup	XP_011528647.1:p.Ser111CysfsTer?
XM_011530346.1:c.303_304dup	XP_011528648.1:p.Ser102CysfsTer?
NM_001007468.2:c.303_304dup	NP_001007469.1:p.Ser102CysfsTer?
NM_001317946.1:c.303_304dup	NP_001304875.1:p.Ser102CysfsTer?
NM_001362877.1:c.330_331dup	NP_001349806.1:p.Ser111CysfsTer?
NM_003073.4:c.330_331dup	NP_003064.2:p.Ser111CysfsTer?
NM_001007468.3:c.303_304dup	NP_001007469.1:p.Ser102CysfsTer?
NM_001317946.2:c.303_304dup	NP_001304875.1:p.Ser102CysfsTer?
NM_001362877.2:c.330_331dup	NP_001349806.1:p.Ser111CysfsTer?
NM_003073.5:c.330_331dup MANE Select	NP_003064.2:p.Ser111CysfsTer?