Canonical Allele Identifier: CA2818530608

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834319del , CM000684.2:g.23834319del	GRCh38
NC_000022.10:g.24176506del , CM000684.1:g.24176506del	GRCh37
NC_000022.9:g.22506506del	NCBI36
NG_009303.1:g.52357del , LRG_520:g.52357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.*139del	ENSP00000263121.8:n.*139del
ENST00000344921.11:c.*139del	ENSP00000340883.6:n.*139del
ENST00000407422.8:c.*139del	ENSP00000383984.3:n.*139del
ENST00000644036.2:c.*139del MANE Select	ENSP00000494049.2:n.*139del
ENST00000644462.1:c.2015del	ENSP00000494283.1:n.2015del
ENST00000645799.1:n.2619del
ENST00000647057.1:c.*791del	ENSP00000494757.1:n.*791del
ENST00000263121.11:c.*139del	ENSP00000263121.7:n.*139del
ENST00000344921.10:c.*139del	ENSP00000340883.6:n.*139del
ENST00000407422.7:c.*139del	ENSP00000383984.3:n.*139del
NM_001007468.1:c.*139del	NP_001007469.1:n.*139del
NM_003073.3:c.*139del , LRG_520t1:c.*139del	NP_003064.2:n.*139del
XM_011530345.1:c.*139del	XP_011528647.1:n.*139del
XM_011530346.1:c.*139del	XP_011528648.1:n.*139del
NM_001007468.2:c.*139del	NP_001007469.1:n.*139del
NM_001317946.1:c.*139del	NP_001304875.1:n.*139del
NM_001362877.1:c.*139del	NP_001349806.1:n.*139del
NM_003073.4:c.*139del	NP_003064.2:n.*139del
NM_001007468.3:c.*139del	NP_001007469.1:n.*139del
NM_001317946.2:c.*139del	NP_001304875.1:n.*139del
NM_001362877.2:c.*139del	NP_001349806.1:n.*139del
NM_003073.5:c.*139del MANE Select	NP_003064.2:n.*139del