Canonical Allele Identifier: CA2655713715

Gene: SMARCB1

Linked Data

• gnomAD v4: 22-23834159-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834161del , CM000684.2:g.23834161del	GRCh38
NC_000022.10:g.24176348del , CM000684.1:g.24176348del	GRCh37
NC_000022.9:g.22506348del	NCBI36
NG_009303.1:g.52199del , LRG_520:g.52199del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.1001del	ENSP00000263121.8:p.Asn334ThrfsTer?
ENST00000344921.11:c.1166del	ENSP00000340883.6:p.Asn389ThrfsTer?
ENST00000407422.8:c.1112del	ENSP00000383984.3:p.Asn371ThrfsTer?
ENST00000644036.2:c.1139del MANE Select	ENSP00000494049.2:p.Asn380ThrfsTer?
ENST00000644462.1:c.1857del	ENSP00000494283.1:n.1857del
ENST00000645799.1:n.2461del
ENST00000646723.1:n.3485del
ENST00000647057.1:c.*633del	ENSP00000494757.1:n.*633del
ENST00000263121.11:c.1139del	ENSP00000263121.7:p.Asn380ThrfsTer?
ENST00000344921.10:c.1166del	ENSP00000340883.6:p.Asn389ThrfsTer?
ENST00000407082.3:c.1001del	ENSP00000385226.3:p.Asn334ThrfsTer?
ENST00000407422.7:c.1112del	ENSP00000383984.3:p.Asn371ThrfsTer?
NM_001007468.1:c.1112del	NP_001007469.1:p.Asn371ThrfsTer?
NM_003073.3:c.1139del , LRG_520t1:c.1139del	NP_003064.2:p.Asn380ThrfsTer?
XM_011530345.1:c.1193del	XP_011528647.1:p.Asn398ThrfsTer?
XM_011530346.1:c.1166del	XP_011528648.1:p.Asn389ThrfsTer?
NM_001007468.2:c.1112del	NP_001007469.1:p.Asn371ThrfsTer?
NM_001317946.1:c.1166del	NP_001304875.1:p.Asn389ThrfsTer?
NM_001362877.1:c.1193del	NP_001349806.1:p.Asn398ThrfsTer?
NM_003073.4:c.1139del	NP_003064.2:p.Asn380ThrfsTer?
NM_001007468.3:c.1112del	NP_001007469.1:p.Asn371ThrfsTer?
NM_001317946.2:c.1166del	NP_001304875.1:p.Asn389ThrfsTer?
NM_001362877.2:c.1193del	NP_001349806.1:p.Asn398ThrfsTer?
NM_003073.5:c.1139del MANE Select	NP_003064.2:p.Asn380ThrfsTer?