Canonical Allele Identifier: CA2655713801

Gene: SMARCB1

Linked Data

• gnomAD v4: 22-23834175-T-TGGTAACCAGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834176_23834187dup , CM000684.2:g.23834176_23834187dup	GRCh38
NC_000022.10:g.24176363_24176374dup , CM000684.1:g.24176363_24176374dup	GRCh37
NC_000022.9:g.22506363_22506374dup	NCBI36
NG_009303.1:g.52214_52225dup , LRG_520:g.52214_52225dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.1016_*7dup	ENSP00000263121.8:n.1016_*7dup
ENST00000344921.11:c.1181_*7dup	ENSP00000340883.6:n.1181_*7dup
ENST00000407422.8:c.1127_*7dup	ENSP00000383984.3:n.1127_*7dup
ENST00000644036.2:c.1154_*7dup MANE Select	ENSP00000494049.2:n.1154_*7dup
ENST00000644462.1:c.1872_1883dup	ENSP00000494283.1:n.1872_1883dup
ENST00000645799.1:n.2476_2487dup
ENST00000646723.1:n.3500_3511dup
ENST00000647057.1:c.*648_*659dup	ENSP00000494757.1:n.*648_*659dup
ENST00000263121.11:c.1154_*7dup	ENSP00000263121.7:n.1154_*7dup
ENST00000344921.10:c.1181_*7dup	ENSP00000340883.6:n.1181_*7dup
ENST00000407422.7:c.1127_*7dup	ENSP00000383984.3:n.1127_*7dup
NM_001007468.1:c.1127_*7dup	NP_001007469.1:n.1127_*7dup
NM_003073.3:c.1154_*7dup , LRG_520t1:c.1154_*7dup	NP_003064.2:n.1154_*7dup
XM_011530345.1:c.1208_*7dup	XP_011528647.1:n.1208_*7dup
XM_011530346.1:c.1181_*7dup	XP_011528648.1:n.1181_*7dup
NM_001007468.2:c.1127_*7dup	NP_001007469.1:n.1127_*7dup
NM_001317946.1:c.1181_*7dup	NP_001304875.1:n.1181_*7dup
NM_001362877.1:c.1208_*7dup	NP_001349806.1:n.1208_*7dup
NM_003073.4:c.1154_*7dup	NP_003064.2:n.1154_*7dup
NM_001007468.3:c.1127_*7dup	NP_001007469.1:n.1127_*7dup
NM_001317946.2:c.1181_*7dup	NP_001304875.1:n.1181_*7dup
NM_001362877.2:c.1208_*7dup	NP_001349806.1:n.1208_*7dup
NM_003073.5:c.1154_*7dup MANE Select	NP_003064.2:n.1154_*7dup