Canonical Allele Identifier: CA513770653

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 692027
• ClinVar RCV Id: RCV000853299
• dbSNP Id: rs1555876140
• COSMIC: COSM1064 ; COSM53301
• MyVariant Identifiers: chr22:g.24135864del (hg19) ; chr22:g.24135859del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793677del , CM000684.2:g.23793677del	GRCh38
NC_000022.10:g.24135864del , CM000684.1:g.24135864del	GRCh37
NC_000022.9:g.22465864del	NCBI36
NG_009303.1:g.11715del , LRG_520:g.11715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.351del	ENSP00000263121.8:p.Thr118ProfsTer12
ENST00000344921.11:c.324del	ENSP00000340883.6:p.Thr109ProfsTer25
ENST00000407082.4:c.324del	ENSP00000385226.4:p.Thr109ProfsTer12
ENST00000407422.8:c.324del	ENSP00000383984.3:p.Thr109ProfsTer25
ENST00000417137.6:c.351del	ENSP00000388489.2:p.Thr118ProfsTer25
ENST00000491967.2:n.514del
ENST00000643421.1:n.319del
ENST00000644036.2:c.351del MANE Select	ENSP00000494049.2:p.Thr118ProfsTer25
ENST00000644462.1:c.186del	ENSP00000494283.1:p.Thr63ProfsTer25
ENST00000644619.1:c.351del	ENSP00000494695.1:p.Thr118ProfsTer25
ENST00000646421.1:n.2207del
ENST00000646723.1:n.339del
ENST00000646911.1:n.263del
ENST00000647057.1:c.93+6415del	ENSP00000494757.1:n.93+6415del
ENST00000263121.11:c.351del	ENSP00000263121.7:p.Thr118ProfsTer25
ENST00000344921.10:c.324del	ENSP00000340883.6:p.Thr109ProfsTer25
ENST00000407082.3:c.351del	ENSP00000385226.3:p.Thr118ProfsTer12
ENST00000407422.7:c.324del	ENSP00000383984.3:p.Thr109ProfsTer25
ENST00000417137.5:c.351del	ENSP00000388489.1:p.Thr118ProfsTer25
ENST00000491967.1:n.77del
ENST00000634926.1:c.203del
ENST00000635578.1:c.176del
NM_001007468.1:c.324del	NP_001007469.1:p.Thr109ProfsTer25
NM_003073.3:c.351del , LRG_520t1:c.351del	NP_003064.2:p.Thr118ProfsTer25
XM_011530345.1:c.351del	XP_011528647.1:p.Thr118ProfsTer25
XM_011530346.1:c.324del	XP_011528648.1:p.Thr109ProfsTer25
NM_001007468.2:c.324del	NP_001007469.1:p.Thr109ProfsTer25
NM_001317946.1:c.324del	NP_001304875.1:p.Thr109ProfsTer25
NM_001362877.1:c.351del	NP_001349806.1:p.Thr118ProfsTer25
NM_003073.4:c.351del	NP_003064.2:p.Thr118ProfsTer25
NM_001007468.3:c.324del	NP_001007469.1:p.Thr109ProfsTer25
NM_001317946.2:c.324del	NP_001304875.1:p.Thr109ProfsTer25
NM_001362877.2:c.351del	NP_001349806.1:p.Thr118ProfsTer25
NM_003073.5:c.351del MANE Select	NP_003064.2:p.Thr118ProfsTer25