Canonical Allele Identifier: CA2655714967

Gene: SMARCB1

Linked Data

• gnomAD v4: 22-23834372-A-ACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834374_23834376dup , CM000684.2:g.23834374_23834376dup	GRCh38
NC_000022.10:g.24176561_24176563dup , CM000684.1:g.24176561_24176563dup	GRCh37
NC_000022.9:g.22506561_22506563dup	NCBI36
NG_009303.1:g.52412_52414dup , LRG_520:g.52412_52414dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.*194_*196dup	ENSP00000263121.8:n.*194_*196dup
ENST00000344921.11:c.*194_*196dup	ENSP00000340883.6:n.*194_*196dup
ENST00000407422.8:c.*194_*196dup	ENSP00000383984.3:n.*194_*196dup
ENST00000644036.2:c.*194_*196dup MANE Select	ENSP00000494049.2:n.*194_*196dup
ENST00000647057.1:c.*846_*848dup	ENSP00000494757.1:n.*846_*848dup
ENST00000263121.11:c.*194_*196dup	ENSP00000263121.7:n.*194_*196dup
ENST00000344921.10:c.*194_*196dup	ENSP00000340883.6:n.*194_*196dup
ENST00000407422.7:c.*194_*196dup	ENSP00000383984.3:n.*194_*196dup
NM_001007468.1:c.*194_*196dup	NP_001007469.1:n.*194_*196dup
NM_003073.3:c.*194_*196dup , LRG_520t1:c.*194_*196dup	NP_003064.2:n.*194_*196dup
XM_011530345.1:c.*194_*196dup	XP_011528647.1:n.*194_*196dup
XM_011530346.1:c.*194_*196dup	XP_011528648.1:n.*194_*196dup
NM_001007468.2:c.*194_*196dup	NP_001007469.1:n.*194_*196dup
NM_001317946.1:c.*194_*196dup	NP_001304875.1:n.*194_*196dup
NM_001362877.1:c.*194_*196dup	NP_001349806.1:n.*194_*196dup
NM_003073.4:c.*194_*196dup	NP_003064.2:n.*194_*196dup
NM_001007468.3:c.*194_*196dup	NP_001007469.1:n.*194_*196dup
NM_001317946.2:c.*194_*196dup	NP_001304875.1:n.*194_*196dup
NM_001362877.2:c.*194_*196dup	NP_001349806.1:n.*194_*196dup
NM_003073.5:c.*194_*196dup MANE Select	NP_003064.2:n.*194_*196dup