Canonical Allele Identifier: CA645606657

Gene: SMARCB1

Linked Data

• COSMIC: COSM24614

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793612_23793613insC , CM000684.2:g.23793612_23793613insC	GRCh38
NC_000022.10:g.24135799_24135800insC , CM000684.1:g.24135799_24135800insC	GRCh37
NC_000022.9:g.22465799_22465800insC	NCBI36
NG_009303.1:g.11650_11651insC , LRG_520:g.11650_11651insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.286_287insC	ENSP00000263121.8:p.Val96AlafsTer10
ENST00000344921.11:c.259_260insC	ENSP00000340883.6:p.Val87AlafsTer10
ENST00000407082.4:c.259_260insC	ENSP00000385226.4:p.Val87AlafsTer10
ENST00000407422.8:c.259_260insC	ENSP00000383984.3:p.Val87AlafsTer10
ENST00000417137.6:c.286_287insC	ENSP00000388489.2:p.Val96AlafsTer10
ENST00000491967.2:n.449_450insC
ENST00000643421.1:n.254_255insC
ENST00000644036.2:c.286_287insC MANE Select	ENSP00000494049.2:p.Val96AlafsTer10
ENST00000644462.1:c.121_122insC	ENSP00000494283.1:p.Val41AlafsTer10
ENST00000644619.1:c.286_287insC	ENSP00000494695.1:p.Val96AlafsTer10
ENST00000646421.1:n.2142_2143insC
ENST00000646723.1:n.274_275insC
ENST00000646911.1:n.198_199insC
ENST00000647057.1:c.93+6350_93+6351insC	ENSP00000494757.1:n.93+6350_93+6351insC
ENST00000263121.11:c.286_287insC	ENSP00000263121.7:p.Val96AlafsTer10
ENST00000344921.10:c.259_260insC	ENSP00000340883.6:p.Val87AlafsTer10
ENST00000407082.3:c.286_287insC	ENSP00000385226.3:p.Val96AlafsTer10
ENST00000407422.7:c.259_260insC	ENSP00000383984.3:p.Val87AlafsTer10
ENST00000417137.5:c.286_287insC	ENSP00000388489.1:p.Val96AlafsTer10
ENST00000491967.1:n.12_13insC
ENST00000634926.1:c.138_139insC
ENST00000635578.1:c.111_112insC
NM_001007468.1:c.259_260insC	NP_001007469.1:p.Val87AlafsTer10
NM_003073.3:c.286_287insC , LRG_520t1:c.286_287insC	NP_003064.2:p.Val96AlafsTer10
XM_011530345.1:c.286_287insC	XP_011528647.1:p.Val96AlafsTer10
XM_011530346.1:c.259_260insC	XP_011528648.1:p.Val87AlafsTer10
NM_001007468.2:c.259_260insC	NP_001007469.1:p.Val87AlafsTer10
NM_001317946.1:c.259_260insC	NP_001304875.1:p.Val87AlafsTer10
NM_001362877.1:c.286_287insC	NP_001349806.1:p.Val96AlafsTer10
NM_003073.4:c.286_287insC	NP_003064.2:p.Val96AlafsTer10
NM_001007468.3:c.259_260insC	NP_001007469.1:p.Val87AlafsTer10
NM_001317946.2:c.259_260insC	NP_001304875.1:p.Val87AlafsTer10
NM_001362877.2:c.286_287insC	NP_001349806.1:p.Val96AlafsTer10
NM_003073.5:c.286_287insC MANE Select	NP_003064.2:p.Val96AlafsTer10