Canonical Allele Identifier: CA1024503131

Gene: SMARCB1

Linked Data

• gnomAD v3: 22-23834365-G-GCCCC
• gnomAD v4: 22-23834365-G-GCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834368_23834371dup , CM000684.2:g.23834368_23834371dup	GRCh38
NC_000022.10:g.24176555_24176558dup , CM000684.1:g.24176555_24176558dup	GRCh37
NC_000022.9:g.22506555_22506558dup	NCBI36
NG_009303.1:g.52406_52409dup , LRG_520:g.52406_52409dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.*188_*191dup	ENSP00000263121.8:n.*188_*191dup
ENST00000344921.11:c.*188_*191dup	ENSP00000340883.6:n.*188_*191dup
ENST00000407422.8:c.*188_*191dup	ENSP00000383984.3:n.*188_*191dup
ENST00000644036.2:c.*188_*191dup MANE Select	ENSP00000494049.2:n.*188_*191dup
ENST00000647057.1:c.*840_*843dup	ENSP00000494757.1:n.*840_*843dup
ENST00000263121.11:c.*188_*191dup	ENSP00000263121.7:n.*188_*191dup
ENST00000344921.10:c.*188_*191dup	ENSP00000340883.6:n.*188_*191dup
ENST00000407422.7:c.*188_*191dup	ENSP00000383984.3:n.*188_*191dup
NM_001007468.1:c.*188_*191dup	NP_001007469.1:n.*188_*191dup
NM_003073.3:c.*188_*191dup , LRG_520t1:c.*188_*191dup	NP_003064.2:n.*188_*191dup
XM_011530345.1:c.*188_*191dup	XP_011528647.1:n.*188_*191dup
XM_011530346.1:c.*188_*191dup	XP_011528648.1:n.*188_*191dup
NM_001007468.2:c.*188_*191dup	NP_001007469.1:n.*188_*191dup
NM_001317946.1:c.*188_*191dup	NP_001304875.1:n.*188_*191dup
NM_001362877.1:c.*188_*191dup	NP_001349806.1:n.*188_*191dup
NM_003073.4:c.*188_*191dup	NP_003064.2:n.*188_*191dup
NM_001007468.3:c.*188_*191dup	NP_001007469.1:n.*188_*191dup
NM_001317946.2:c.*188_*191dup	NP_001304875.1:n.*188_*191dup
NM_001362877.2:c.*188_*191dup	NP_001349806.1:n.*188_*191dup
NM_003073.5:c.*188_*191dup MANE Select	NP_003064.2:n.*188_*191dup