Canonical Allele Identifier: CA2655713811

Gene: SMARCB1

Linked Data

• gnomAD v4: 22-23834178-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834180del , CM000684.2:g.23834180del	GRCh38
NC_000022.10:g.24176367del , CM000684.1:g.24176367del	GRCh37
NC_000022.9:g.22506367del	NCBI36
NG_009303.1:g.52218del , LRG_520:g.52218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.1020del	ENSP00000263121.8:p.Ter340TyrextTer?
ENST00000344921.11:c.1185del	ENSP00000340883.6:p.Ter395TyrextTer?
ENST00000407422.8:c.1131del	ENSP00000383984.3:p.Ter377TyrextTer?
ENST00000644036.2:c.1158del MANE Select	ENSP00000494049.2:p.Ter386TyrextTer?
ENST00000644462.1:c.1876del	ENSP00000494283.1:n.1876del
ENST00000645799.1:n.2480del
ENST00000646723.1:n.3504del
ENST00000647057.1:c.*652del	ENSP00000494757.1:n.*652del
ENST00000263121.11:c.1158del	ENSP00000263121.7:p.Ter386TyrextTer?
ENST00000344921.10:c.1185del	ENSP00000340883.6:p.Ter395TyrextTer?
ENST00000407082.3:c.1020del	ENSP00000385226.3:p.Ter340TyrextTer?
ENST00000407422.7:c.1131del	ENSP00000383984.3:p.Ter377TyrextTer?
NM_001007468.1:c.1131del	NP_001007469.1:p.Ter377TyrextTer?
NM_003073.3:c.1158del , LRG_520t1:c.1158del	NP_003064.2:p.Ter386TyrextTer?
XM_011530345.1:c.1212del	XP_011528647.1:p.Ter404TyrextTer?
XM_011530346.1:c.1185del	XP_011528648.1:p.Ter395TyrextTer?
NM_001007468.2:c.1131del	NP_001007469.1:p.Ter377TyrextTer?
NM_001317946.1:c.1185del	NP_001304875.1:p.Ter395TyrextTer?
NM_001362877.1:c.1212del	NP_001349806.1:p.Ter404TyrextTer?
NM_003073.4:c.1158del	NP_003064.2:p.Ter386TyrextTer?
NM_001007468.3:c.1131del	NP_001007469.1:p.Ter377TyrextTer?
NM_001317946.2:c.1185del	NP_001304875.1:p.Ter395TyrextTer?
NM_001362877.2:c.1212del	NP_001349806.1:p.Ter404TyrextTer?
NM_003073.5:c.1158del MANE Select	NP_003064.2:p.Ter386TyrextTer?