Canonical Allele Identifier: CA2397981150

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834251_23834263delinsAAGGACAGAGGCG , CM000684.2:g.23834251_23834263delinsAAGGACAGAGGCG	GRCh38
NC_000022.10:g.24176438_24176450delinsAAGGACAGAGGCG , CM000684.1:g.24176438_24176450delinsAAGGACAGAGGCG	GRCh37
NC_000022.9:g.22506438_22506450delinsAAGGACAGAGGCG	NCBI36
NG_009303.1:g.52289_52301delinsAAGGACAGAGGCG , LRG_520:g.52289_52301delinsAAGGACAGAGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.*71_*83delinsAAGGACAGAGGCG	ENSP00000263121.8:n.*71_*83delinsAAGGACAGAGGCG
ENST00000344921.11:c.*71_*83delinsAAGGACAGAGGCG	ENSP00000340883.6:n.*71_*83delinsAAGGACAGAGGCG
ENST00000407422.8:c.*71_*83delinsAAGGACAGAGGCG	ENSP00000383984.3:n.*71_*83delinsAAGGACAGAGGCG
ENST00000644036.2:c.*71_*83delinsAAGGACAGAGGCG MANE Select	ENSP00000494049.2:n.*71_*83delinsAAGGACAGAGGCG
ENST00000644462.1:c.1947_1959delinsAAGGACAGAGGCG	ENSP00000494283.1:n.1947_1959delinsAAGGACAGAGGCG
ENST00000645799.1:n.2551_2563delinsAAGGACAGAGGCG
ENST00000646723.1:n.3575_3587delinsAAGGACAGAGGCG
ENST00000647057.1:c.*723_*735delinsAAGGACAGAGGCG	ENSP00000494757.1:n.*723_*735delinsAAGGACAGAGGCG
ENST00000263121.11:c.*71_*83delinsAAGGACAGAGGCG	ENSP00000263121.7:n.*71_*83delinsAAGGACAGAGGCG
ENST00000344921.10:c.*71_*83delinsAAGGACAGAGGCG	ENSP00000340883.6:n.*71_*83delinsAAGGACAGAGGCG
ENST00000407422.7:c.*71_*83delinsAAGGACAGAGGCG	ENSP00000383984.3:n.*71_*83delinsAAGGACAGAGGCG
NM_001007468.1:c.*71_*83delinsAAGGACAGAGGCG	NP_001007469.1:n.*71_*83delinsAAGGACAGAGGCG
NM_003073.3:c.*71_*83delinsAAGGACAGAGGCG , LRG_520t1:c.*71_*83delinsAAGGACAGAGGCG	NP_003064.2:n.*71_*83delinsAAGGACAGAGGCG
XM_011530345.1:c.*71_*83delinsAAGGACAGAGGCG	XP_011528647.1:n.*71_*83delinsAAGGACAGAGGCG
XM_011530346.1:c.*71_*83delinsAAGGACAGAGGCG	XP_011528648.1:n.*71_*83delinsAAGGACAGAGGCG
NM_001007468.2:c.*71_*83delinsAAGGACAGAGGCG	NP_001007469.1:n.*71_*83delinsAAGGACAGAGGCG
NM_001317946.1:c.*71_*83delinsAAGGACAGAGGCG	NP_001304875.1:n.*71_*83delinsAAGGACAGAGGCG
NM_001362877.1:c.*71_*83delinsAAGGACAGAGGCG	NP_001349806.1:n.*71_*83delinsAAGGACAGAGGCG
NM_003073.4:c.*71_*83delinsAAGGACAGAGGCG	NP_003064.2:n.*71_*83delinsAAGGACAGAGGCG
NM_001007468.3:c.*71_*83delinsAAGGACAGAGGCG	NP_001007469.1:n.*71_*83delinsAAGGACAGAGGCG
NM_001317946.2:c.*71_*83delinsAAGGACAGAGGCG	NP_001304875.1:n.*71_*83delinsAAGGACAGAGGCG
NM_001362877.2:c.*71_*83delinsAAGGACAGAGGCG	NP_001349806.1:n.*71_*83delinsAAGGACAGAGGCG
NM_003073.5:c.*71_*83delinsAAGGACAGAGGCG MANE Select	NP_003064.2:n.*71_*83delinsAAGGACAGAGGCG