Canonical Allele Identifier: CA16616296
Gene: SMARCB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 410704
ClinVar RCV Id: RCV001387723
dbSNP Id: rs1060503017

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23825398_23825405del , CM000684.2:g.23825398_23825405del GRCh38
NC_000022.10:g.24167585_24167592del , CM000684.1:g.24167585_24167592del GRCh37
NC_000022.9:g.22497585_22497592del NCBI36
NG_009303.1:g.43436_43443del , LRG_520:g.43436_43443del

Transcript Alleles

HGVS Amino-acid change
ENST00000263121.12:c.831_838del ENSP00000263121.8:p.Lys278ArgfsTer?
ENST00000344921.11:c.996_1003del ENSP00000340883.6:p.Lys333ArgfsTer?
ENST00000407422.8:c.942_949del ENSP00000383984.3:p.Lys315ArgfsTer?
ENST00000477836.2:n.2120_2127del
ENST00000644036.2:c.969_976del MANE Select ENSP00000494049.2:p.Lys324ArgfsTer?
ENST00000644462.1:c.1687_1694del ENSP00000494283.1:n.1687_1694del
ENST00000645799.1:n.2291_2298del
ENST00000646723.1:n.3315_3322del
ENST00000646911.1:n.881_888del
ENST00000647057.1:c.*463_*470del ENSP00000494757.1:n.*463_*470del
ENST00000263121.11:c.969_976del ENSP00000263121.7:p.Lys324ArgfsTer?
ENST00000344921.10:c.996_1003del ENSP00000340883.6:p.Lys333ArgfsTer?
ENST00000407082.3:c.831_838del ENSP00000385226.3:p.Lys278ArgfsTer?
ENST00000407422.7:c.942_949del ENSP00000383984.3:p.Lys315ArgfsTer?
NM_001007468.1:c.942_949del NP_001007469.1:p.Lys315ArgfsTer?
NM_003073.3:c.969_976del , LRG_520t1:c.969_976del NP_003064.2:p.Lys324ArgfsTer?
XM_011530345.1:c.1023_1030del XP_011528647.1:p.Lys342ArgfsTer?
XM_011530346.1:c.996_1003del XP_011528648.1:p.Lys333ArgfsTer?
NM_001007468.2:c.942_949del NP_001007469.1:p.Lys315ArgfsTer?
NM_001317946.1:c.996_1003del NP_001304875.1:p.Lys333ArgfsTer?
NM_001362877.1:c.1023_1030del NP_001349806.1:p.Lys342ArgfsTer?
NM_003073.4:c.969_976del NP_003064.2:p.Lys324ArgfsTer?
NM_001007468.3:c.942_949del NP_001007469.1:p.Lys315ArgfsTer?
NM_001317946.2:c.996_1003del NP_001304875.1:p.Lys333ArgfsTer?
NM_001362877.2:c.1023_1030del NP_001349806.1:p.Lys342ArgfsTer?
NM_003073.5:c.969_976del MANE Select NP_003064.2:p.Lys324ArgfsTer?