Canonical Allele Identifier: CA2573157755

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 1391465
• ClinVar RCV Id: RCV001881950
• dbSNP Id: rs2145952071

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23787226_23787243del , CM000684.2:g.23787226_23787243del	GRCh38
NC_000022.10:g.24129413_24129430del , CM000684.1:g.24129413_24129430del	GRCh37
NC_000022.9:g.22459413_22459430del	NCBI36
NG_009303.1:g.5264_5281del , LRG_520:g.5264_5281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.57_74del	ENSP00000263121.8:p.Glu20_Phe25del
ENST00000344921.11:c.57_74del	ENSP00000340883.6:p.Glu20_Phe25del
ENST00000407082.4:c.57_74del	ENSP00000385226.4:p.Glu20_Phe25del
ENST00000407422.8:c.57_74del	ENSP00000383984.3:p.Glu20_Phe25del
ENST00000417137.6:c.57_74del	ENSP00000388489.2:p.Glu20_Phe25del
ENST00000491967.2:n.247_264del
ENST00000643421.1:n.25_42del
ENST00000644036.2:c.57_74del MANE Select	ENSP00000494049.2:p.Glu20_Phe25del
ENST00000644619.1:c.57_74del	ENSP00000494695.1:p.Glu20_Phe25del
ENST00000646421.1:n.249_266del
ENST00000646723.1:n.45_62del
ENST00000647057.1:c.57_74del	ENSP00000494757.1:p.Glu20_Phe25del
ENST00000263121.11:c.57_74del	ENSP00000263121.7:p.Glu20_Phe25del
ENST00000344921.10:c.57_74del	ENSP00000340883.6:p.Glu20_Phe25del
ENST00000407082.3:c.57_74del	ENSP00000385226.3:p.Glu20_Phe25del
ENST00000407422.7:c.57_74del	ENSP00000383984.3:p.Glu20_Phe25del
ENST00000417137.5:c.57_74del	ENSP00000388489.1:p.Glu20_Phe25del
NM_001007468.1:c.57_74del	NP_001007469.1:p.Glu20_Phe25del
NM_003073.3:c.57_74del , LRG_520t1:c.57_74del	NP_003064.2:p.Glu20_Phe25del
XM_011530345.1:c.57_74del	XP_011528647.1:p.Glu20_Phe25del
XM_011530346.1:c.57_74del	XP_011528648.1:p.Glu20_Phe25del
NM_001007468.2:c.57_74del	NP_001007469.1:p.Glu20_Phe25del
NM_001317946.1:c.57_74del	NP_001304875.1:p.Glu20_Phe25del
NM_001362877.1:c.57_74del	NP_001349806.1:p.Glu20_Phe25del
NM_003073.4:c.57_74del	NP_003064.2:p.Glu20_Phe25del
NM_001007468.3:c.57_74del	NP_001007469.1:p.Glu20_Phe25del
NM_001317946.2:c.57_74del	NP_001304875.1:p.Glu20_Phe25del
NM_001362877.2:c.57_74del	NP_001349806.1:p.Glu20_Phe25del
NM_003073.5:c.57_74del MANE Select	NP_003064.2:p.Glu20_Phe25del