Canonical Allele Identifier: CA2397961357

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793671_23793672delinsGC , CM000684.2:g.23793671_23793672delinsGC	GRCh38
NC_000022.10:g.24135858_24135859delinsGC , CM000684.1:g.24135858_24135859delinsGC	GRCh37
NC_000022.9:g.22465858_22465859delinsGC	NCBI36
NG_009303.1:g.11709_11710delinsGC , LRG_520:g.11709_11710delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.345_346delinsGC	ENSP00000263121.8:p.Glu115=
ENST00000344921.11:c.318_319delinsGC	ENSP00000340883.6:p.Glu106=
ENST00000407082.4:c.318_319delinsGC	ENSP00000385226.4:p.Glu106=
ENST00000407422.8:c.318_319delinsGC	ENSP00000383984.3:p.Glu106=
ENST00000417137.6:c.345_346delinsGC	ENSP00000388489.2:p.Glu115=
ENST00000491967.2:n.508_509delinsGC
ENST00000643421.1:n.313_314delinsGC
ENST00000644036.2:c.345_346delinsGC MANE Select	ENSP00000494049.2:p.Glu115=
ENST00000644462.1:c.180_181delinsGC	ENSP00000494283.1:p.Glu60=
ENST00000644619.1:c.345_346delinsGC	ENSP00000494695.1:p.Glu115=
ENST00000646421.1:n.2201_2202delinsGC
ENST00000646723.1:n.333_334delinsGC
ENST00000646911.1:n.257_258delinsGC
ENST00000647057.1:c.93+6409_93+6410delinsGC	ENSP00000494757.1:n.93+6409_93+6410delinsGC
ENST00000263121.11:c.345_346delinsGC	ENSP00000263121.7:p.Glu115=
ENST00000344921.10:c.318_319delinsGC	ENSP00000340883.6:p.Glu106=
ENST00000407082.3:c.345_346delinsGC	ENSP00000385226.3:p.Glu115=
ENST00000407422.7:c.318_319delinsGC	ENSP00000383984.3:p.Glu106=
ENST00000417137.5:c.345_346delinsGC	ENSP00000388489.1:p.Glu115=
ENST00000491967.1:n.71_72delinsGC
ENST00000634926.1:c.197_198delinsGC
ENST00000635578.1:c.170_171delinsGC
NM_001007468.1:c.318_319delinsGC	NP_001007469.1:p.Glu106=
NM_003073.3:c.345_346delinsGC , LRG_520t1:c.345_346delinsGC	NP_003064.2:p.Glu115=
XM_011530345.1:c.345_346delinsGC	XP_011528647.1:p.Glu115=
XM_011530346.1:c.318_319delinsGC	XP_011528648.1:p.Glu106=
NM_001007468.2:c.318_319delinsGC	NP_001007469.1:p.Glu106=
NM_001317946.1:c.318_319delinsGC	NP_001304875.1:p.Glu106=
NM_001362877.1:c.345_346delinsGC	NP_001349806.1:p.Glu115=
NM_003073.4:c.345_346delinsGC	NP_003064.2:p.Glu115=
NM_001007468.3:c.318_319delinsGC	NP_001007469.1:p.Glu106=
NM_001317946.2:c.318_319delinsGC	NP_001304875.1:p.Glu106=
NM_001362877.2:c.345_346delinsGC	NP_001349806.1:p.Glu115=
NM_003073.5:c.345_346delinsGC MANE Select	NP_003064.2:p.Glu115=