Canonical Allele Identifier: CA513770418

Gene: SMARCB1

Linked Data

• COSMIC: COSM53294
• MyVariant Identifiers: chr22:g.24135836del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793649del , CM000684.2:g.23793649del	GRCh38
NC_000022.10:g.24135836del , CM000684.1:g.24135836del	GRCh37
NC_000022.9:g.22465836del	NCBI36
NG_009303.1:g.11687del , LRG_520:g.11687del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.323del	ENSP00000263121.8:p.Lys108ArgfsTer22
ENST00000344921.11:c.296del	ENSP00000340883.6:p.Lys99ArgfsTer?
ENST00000407082.4:c.296del	ENSP00000385226.4:p.Lys99ArgfsTer22
ENST00000407422.8:c.296del	ENSP00000383984.3:p.Lys99ArgfsTer?
ENST00000417137.6:c.323del	ENSP00000388489.2:p.Lys108ArgfsTer?
ENST00000491967.2:n.486del
ENST00000643421.1:n.291del
ENST00000644036.2:c.323del MANE Select	ENSP00000494049.2:p.Lys108ArgfsTer?
ENST00000644462.1:c.158del	ENSP00000494283.1:p.Lys53ArgfsTer?
ENST00000644619.1:c.323del	ENSP00000494695.1:p.Lys108ArgfsTer?
ENST00000646421.1:n.2179del
ENST00000646723.1:n.311del
ENST00000646911.1:n.235del
ENST00000647057.1:c.93+6387del	ENSP00000494757.1:n.93+6387del
ENST00000263121.11:c.323del	ENSP00000263121.7:p.Lys108ArgfsTer?
ENST00000344921.10:c.296del	ENSP00000340883.6:p.Lys99ArgfsTer?
ENST00000407082.3:c.323del	ENSP00000385226.3:p.Lys108ArgfsTer22
ENST00000407422.7:c.296del	ENSP00000383984.3:p.Lys99ArgfsTer?
ENST00000417137.5:c.323del	ENSP00000388489.1:p.Lys108ArgfsTer?
ENST00000491967.1:n.49del
ENST00000634926.1:c.175del
ENST00000635578.1:c.148del
NM_001007468.1:c.296del	NP_001007469.1:p.Lys99ArgfsTer?
NM_003073.3:c.323del , LRG_520t1:c.323del	NP_003064.2:p.Lys108ArgfsTer?
XM_011530345.1:c.323del	XP_011528647.1:p.Lys108ArgfsTer?
XM_011530346.1:c.296del	XP_011528648.1:p.Lys99ArgfsTer?
NM_001007468.2:c.296del	NP_001007469.1:p.Lys99ArgfsTer?
NM_001317946.1:c.296del	NP_001304875.1:p.Lys99ArgfsTer?
NM_001362877.1:c.323del	NP_001349806.1:p.Lys108ArgfsTer?
NM_003073.4:c.323del	NP_003064.2:p.Lys108ArgfsTer?
NM_001007468.3:c.296del	NP_001007469.1:p.Lys99ArgfsTer?
NM_001317946.2:c.296del	NP_001304875.1:p.Lys99ArgfsTer?
NM_001362877.2:c.323del	NP_001349806.1:p.Lys108ArgfsTer?
NM_003073.5:c.323del MANE Select	NP_003064.2:p.Lys108ArgfsTer?