Canonical Allele Identifier: CA322592312

Gene: SMARCB1

Linked Data

• dbSNP Id: rs1035335143
• gnomAD v3: 22-23787016-G-GGCGGCTGAGGAGC
• gnomAD v4: 22-23787016-G-GGCGGCTGAGGAGC
• MyVariant Identifiers: chr22:g.24129203_24129204insGCGGCTGAGGAGC (hg19) ; chr22:g.23787016_23787017insGCGGCTGAGGAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23787017_23787029dup , CM000684.2:g.23787017_23787029dup	GRCh38
NC_000022.10:g.24129204_24129216dup , CM000684.1:g.24129204_24129216dup	GRCh37
NC_000022.9:g.22459204_22459216dup	NCBI36
NG_009303.1:g.5055_5067dup , LRG_520:g.5055_5067dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.-153_-141dup	ENSP00000263121.8:n.-153_-141dup
ENST00000344921.11:c.-153_-141dup	ENSP00000340883.6:n.-153_-141dup
ENST00000407082.4:c.-153_-141dup	ENSP00000385226.4:n.-153_-141dup
ENST00000407422.8:c.-153_-141dup	ENSP00000383984.3:n.-153_-141dup
ENST00000491967.2:n.38_50dup
ENST00000644036.2:c.-153_-141dup MANE Select	ENSP00000494049.2:n.-153_-141dup
ENST00000644619.1:c.-153_-141dup	ENSP00000494695.1:n.-153_-141dup
ENST00000646421.1:n.40_52dup
ENST00000647057.1:c.-153_-141dup	ENSP00000494757.1:n.-153_-141dup
ENST00000263121.11:c.-153_-141dup	ENSP00000263121.7:n.-153_-141dup
ENST00000344921.10:c.-153_-141dup	ENSP00000340883.6:n.-153_-141dup
ENST00000407082.3:c.-153_-141dup	ENSP00000385226.3:n.-153_-141dup
ENST00000407422.7:c.-153_-141dup	ENSP00000383984.3:n.-153_-141dup
ENST00000417137.5:c.-153_-141dup	ENSP00000388489.1:n.-153_-141dup
NM_001007468.1:c.-153_-141dup	NP_001007469.1:n.-153_-141dup
NM_003073.3:c.-153_-141dup , LRG_520t1:c.-153_-141dup	NP_003064.2:n.-153_-141dup
XM_011530345.1:c.-153_-141dup	XP_011528647.1:n.-153_-141dup
XM_011530346.1:c.-153_-141dup	XP_011528648.1:n.-153_-141dup
NM_001007468.2:c.-153_-141dup	NP_001007469.1:n.-153_-141dup
NM_001317946.1:c.-153_-141dup	NP_001304875.1:n.-153_-141dup
NM_001362877.1:c.-153_-141dup	NP_001349806.1:n.-153_-141dup
NM_003073.4:c.-153_-141dup	NP_003064.2:n.-153_-141dup
NM_001007468.3:c.-153_-141dup	NP_001007469.1:n.-153_-141dup
NM_001317946.2:c.-153_-141dup	NP_001304875.1:n.-153_-141dup
NM_001362877.2:c.-153_-141dup	NP_001349806.1:n.-153_-141dup
NM_003073.5:c.-153_-141dup MANE Select	NP_003064.2:n.-153_-141dup