Canonical Allele Identifier: CA513770043

Gene: SMARCB1

Linked Data

• MyVariant Identifiers: chr22:g.24135800_24135801insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793613_23793614insC , CM000684.2:g.23793613_23793614insC	GRCh38
NC_000022.10:g.24135800_24135801insC , CM000684.1:g.24135800_24135801insC	GRCh37
NC_000022.9:g.22465800_22465801insC	NCBI36
NG_009303.1:g.11651_11652insC , LRG_520:g.11651_11652insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.287_288insC	ENSP00000263121.8:p.Glu97GlyfsTer9
ENST00000344921.11:c.260_261insC	ENSP00000340883.6:p.Glu88GlyfsTer9
ENST00000407082.4:c.260_261insC	ENSP00000385226.4:p.Glu88GlyfsTer9
ENST00000407422.8:c.260_261insC	ENSP00000383984.3:p.Glu88GlyfsTer9
ENST00000417137.6:c.287_288insC	ENSP00000388489.2:p.Glu97GlyfsTer9
ENST00000491967.2:n.450_451insC
ENST00000643421.1:n.255_256insC
ENST00000644036.2:c.287_288insC MANE Select	ENSP00000494049.2:p.Glu97GlyfsTer9
ENST00000644462.1:c.122_123insC	ENSP00000494283.1:p.Glu42GlyfsTer9
ENST00000644619.1:c.287_288insC	ENSP00000494695.1:p.Glu97GlyfsTer9
ENST00000646421.1:n.2143_2144insC
ENST00000646723.1:n.275_276insC
ENST00000646911.1:n.199_200insC
ENST00000647057.1:c.93+6351_93+6352insC	ENSP00000494757.1:n.93+6351_93+6352insC
ENST00000263121.11:c.287_288insC	ENSP00000263121.7:p.Glu97GlyfsTer9
ENST00000344921.10:c.260_261insC	ENSP00000340883.6:p.Glu88GlyfsTer9
ENST00000407082.3:c.287_288insC	ENSP00000385226.3:p.Glu97GlyfsTer9
ENST00000407422.7:c.260_261insC	ENSP00000383984.3:p.Glu88GlyfsTer9
ENST00000417137.5:c.287_288insC	ENSP00000388489.1:p.Glu97GlyfsTer9
ENST00000491967.1:n.13_14insC
ENST00000634926.1:c.139_140insC
ENST00000635578.1:c.112_113insC
NM_001007468.1:c.260_261insC	NP_001007469.1:p.Glu88GlyfsTer9
NM_003073.3:c.287_288insC , LRG_520t1:c.287_288insC	NP_003064.2:p.Glu97GlyfsTer9
XM_011530345.1:c.287_288insC	XP_011528647.1:p.Glu97GlyfsTer9
XM_011530346.1:c.260_261insC	XP_011528648.1:p.Glu88GlyfsTer9
NM_001007468.2:c.260_261insC	NP_001007469.1:p.Glu88GlyfsTer9
NM_001317946.1:c.260_261insC	NP_001304875.1:p.Glu88GlyfsTer9
NM_001362877.1:c.287_288insC	NP_001349806.1:p.Glu97GlyfsTer9
NM_003073.4:c.287_288insC	NP_003064.2:p.Glu97GlyfsTer9
NM_001007468.3:c.260_261insC	NP_001007469.1:p.Glu88GlyfsTer9
NM_001317946.2:c.260_261insC	NP_001304875.1:p.Glu88GlyfsTer9
NM_001362877.2:c.287_288insC	NP_001349806.1:p.Glu97GlyfsTer9
NM_003073.5:c.287_288insC MANE Select	NP_003064.2:p.Glu97GlyfsTer9