Canonical Allele Identifier: CA322582318

Gene: SMARCB1

Linked Data

• dbSNP Id: rs535535629
• gnomAD v2: 22-24175991-C-CA
• gnomAD v3: 22-23833804-C-CA
• gnomAD v4: 22-23833804-C-CA
• MyVariant Identifiers: chr22:g.24175991_24175992insA (hg19) ; chr22:g.23833804_23833805insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833805dup , CM000684.2:g.23833805dup	GRCh38
NC_000022.10:g.24175992dup , CM000684.1:g.24175992dup	GRCh37
NC_000022.9:g.22505992dup	NCBI36
NG_009303.1:g.51843dup , LRG_520:g.51843dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.980+102dup	ENSP00000263121.8:n.980+102dup
ENST00000344921.11:c.1145+102dup	ENSP00000340883.6:n.1145+102dup
ENST00000407422.8:c.1091+102dup	ENSP00000383984.3:n.1091+102dup
ENST00000644036.2:c.1118+102dup MANE Select	ENSP00000494049.2:n.1118+102dup
ENST00000644462.1:c.1836+102dup	ENSP00000494283.1:n.1836+102dup
ENST00000645799.1:n.2440+102dup
ENST00000646723.1:n.3464+102dup
ENST00000647057.1:c.*612+102dup	ENSP00000494757.1:n.*612+102dup
ENST00000263121.11:c.1118+102dup	ENSP00000263121.7:n.1118+102dup
ENST00000344921.10:c.1145+102dup	ENSP00000340883.6:n.1145+102dup
ENST00000407082.3:c.980+102dup	ENSP00000385226.3:n.980+102dup
ENST00000407422.7:c.1091+102dup	ENSP00000383984.3:n.1091+102dup
NM_001007468.1:c.1091+102dup	NP_001007469.1:n.1091+102dup
NM_003073.3:c.1118+102dup , LRG_520t1:c.1118+102dup	NP_003064.2:n.1118+102dup
XM_011530345.1:c.1172+102dup	XP_011528647.1:n.1172+102dup
XM_011530346.1:c.1145+102dup	XP_011528648.1:n.1145+102dup
NM_001007468.2:c.1091+102dup	NP_001007469.1:n.1091+102dup
NM_001317946.1:c.1145+102dup	NP_001304875.1:n.1145+102dup
NM_001362877.1:c.1172+102dup	NP_001349806.1:n.1172+102dup
NM_003073.4:c.1118+102dup	NP_003064.2:n.1118+102dup
NM_001007468.3:c.1091+102dup	NP_001007469.1:n.1091+102dup
NM_001317946.2:c.1145+102dup	NP_001304875.1:n.1145+102dup
NM_001362877.2:c.1172+102dup	NP_001349806.1:n.1172+102dup
NM_003073.5:c.1118+102dup MANE Select	NP_003064.2:n.1118+102dup