Canonical Allele Identifier: CA513739894

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 1416806
• ClinVar RCV Id: RCV001947983
• dbSNP Id: rs2146045204
• gnomAD v4: 22-23834166-GC-G
• COSMIC: COSM1057 ; COSM29495 ; COSM144160
• MyVariant Identifiers: chr22:g.24176357del (hg19) ; chr22:g.24176356del (hg19) ; chr22:g.24176354del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834170del , CM000684.2:g.23834170del	GRCh38
NC_000022.10:g.24176357del , CM000684.1:g.24176357del	GRCh37
NC_000022.9:g.22506357del	NCBI36
NG_009303.1:g.52208del , LRG_520:g.52208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.1010del	ENSP00000263121.8:p.Pro337ArgfsTer?
ENST00000344921.11:c.1175del	ENSP00000340883.6:p.Pro392ArgfsTer?
ENST00000407422.8:c.1121del	ENSP00000383984.3:p.Pro374ArgfsTer?
ENST00000644036.2:c.1148del MANE Select	ENSP00000494049.2:p.Pro383ArgfsTer?
ENST00000644462.1:c.1866del	ENSP00000494283.1:n.1866del
ENST00000645799.1:n.2470del
ENST00000646723.1:n.3494del
ENST00000647057.1:c.*642del	ENSP00000494757.1:n.*642del
ENST00000263121.11:c.1148del	ENSP00000263121.7:p.Pro383ArgfsTer?
ENST00000344921.10:c.1175del	ENSP00000340883.6:p.Pro392ArgfsTer?
ENST00000407082.3:c.1010del	ENSP00000385226.3:p.Pro337ArgfsTer?
ENST00000407422.7:c.1121del	ENSP00000383984.3:p.Pro374ArgfsTer?
NM_001007468.1:c.1121del	NP_001007469.1:p.Pro374ArgfsTer?
NM_003073.3:c.1148del , LRG_520t1:c.1148del	NP_003064.2:p.Pro383ArgfsTer?
XM_011530345.1:c.1202del	XP_011528647.1:p.Pro401ArgfsTer?
XM_011530346.1:c.1175del	XP_011528648.1:p.Pro392ArgfsTer?
NM_001007468.2:c.1121del	NP_001007469.1:p.Pro374ArgfsTer?
NM_001317946.1:c.1175del	NP_001304875.1:p.Pro392ArgfsTer?
NM_001362877.1:c.1202del	NP_001349806.1:p.Pro401ArgfsTer?
NM_003073.4:c.1148del	NP_003064.2:p.Pro383ArgfsTer?
NM_001007468.3:c.1121del	NP_001007469.1:p.Pro374ArgfsTer?
NM_001317946.2:c.1175del	NP_001304875.1:p.Pro392ArgfsTer?
NM_001362877.2:c.1202del	NP_001349806.1:p.Pro401ArgfsTer?
NM_003073.5:c.1148del MANE Select	NP_003064.2:p.Pro383ArgfsTer?