Canonical Allele Identifier: CA1024493362

Gene: SMARCB1

Linked Data

• dbSNP Id: rs1488632729
• gnomAD v3: 22-23786994-G-GGTC
• gnomAD v4: 22-23786994-G-GGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23787001_23787003dup , CM000684.2:g.23787001_23787003dup	GRCh38
NC_000022.10:g.24129188_24129190dup , CM000684.1:g.24129188_24129190dup	GRCh37
NC_000022.9:g.22459188_22459190dup	NCBI36
NG_009303.1:g.5039_5041dup , LRG_520:g.5039_5041dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344921.11:c.-169_-167dup	ENSP00000340883.6:n.-169_-167dup
ENST00000407422.8:c.-169_-167dup	ENSP00000383984.3:n.-169_-167dup
ENST00000491967.2:n.22_24dup
ENST00000644036.2:c.-169_-167dup MANE Select	ENSP00000494049.2:n.-169_-167dup
ENST00000646421.1:n.24_26dup
ENST00000647057.1:c.-169_-167dup	ENSP00000494757.1:n.-169_-167dup
ENST00000263121.11:c.-169_-167dup	ENSP00000263121.7:n.-169_-167dup
ENST00000344921.10:c.-169_-167dup	ENSP00000340883.6:n.-169_-167dup
ENST00000407422.7:c.-169_-167dup	ENSP00000383984.3:n.-169_-167dup
ENST00000417137.5:c.-169_-167dup	ENSP00000388489.1:n.-169_-167dup
NM_001007468.1:c.-169_-167dup	NP_001007469.1:n.-169_-167dup
NM_003073.3:c.-169_-167dup , LRG_520t1:c.-169_-167dup	NP_003064.2:n.-169_-167dup
XM_011530345.1:c.-169_-167dup	XP_011528647.1:n.-169_-167dup
XM_011530346.1:c.-169_-167dup	XP_011528648.1:n.-169_-167dup
NM_001007468.2:c.-169_-167dup	NP_001007469.1:n.-169_-167dup
NM_001317946.1:c.-169_-167dup	NP_001304875.1:n.-169_-167dup
NM_001362877.1:c.-169_-167dup	NP_001349806.1:n.-169_-167dup
NM_003073.4:c.-169_-167dup	NP_003064.2:n.-169_-167dup
NM_001007468.3:c.-169_-167dup	NP_001007469.1:n.-169_-167dup
NM_001317946.2:c.-169_-167dup	NP_001304875.1:n.-169_-167dup
NM_001362877.2:c.-169_-167dup	NP_001349806.1:n.-169_-167dup
NM_003073.5:c.-169_-167dup MANE Select	NP_003064.2:n.-169_-167dup