Canonical Allele Identifier: CA119227
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23803385del , CM000684.2:g.23803385del GRCh38
NC_000022.10:g.24145572del , CM000684.1:g.24145572del GRCh37
NC_000022.9:g.22475572del NCBI36
NG_009303.1:g.21423del , LRG_520:g.21423del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.453del ENSP00000263121.8:p.Gln152ArgfsTer11
ENST00000344921.11:c.618del ENSP00000340883.6:p.Gln207ArgfsTer11
ENST00000407082.4:c.426del ENSP00000385226.4:p.Gln143ArgfsTer?
ENST00000407422.8:c.564del ENSP00000383984.3:p.Gln189ArgfsTer11
ENST00000417137.6:c.645del ENSP00000388489.2:p.Gln216ArgfsTer11
ENST00000642275.1:n.839del
ENST00000642727.1:c.757del ENSP00000495144.1:n.757del
ENST00000643421.1:n.559del
ENST00000644036.2:c.591del MANE Select ENSP00000494049.2:p.Gln198ArgfsTer11
ENST00000644462.1:c.1309del ENSP00000494283.1:n.1309del
ENST00000644467.1:n.1385del
ENST00000644619.1:c.*658del ENSP00000494695.1:n.*658del
ENST00000646723.1:n.2792del
ENST00000646911.1:n.503del
ENST00000647057.1:c.*85del ENSP00000494757.1:n.*85del
ENST00000263121.11:c.591del ENSP00000263121.7:p.Gln198ArgfsTer11
ENST00000344921.10:c.618del ENSP00000340883.6:p.Gln207ArgfsTer11
ENST00000407082.3:c.453del ENSP00000385226.3:p.Gln152ArgfsTer11
ENST00000407422.7:c.564del ENSP00000383984.3:p.Gln189ArgfsTer11
ENST00000417137.5:c.645del ENSP00000388489.1:p.Gln216ArgfsTer11
NM_001007468.1:c.564del NP_001007469.1:p.Gln189ArgfsTer11
NM_003073.3:c.591del , LRG_520t1:c.591del NP_003064.2:p.Gln198ArgfsTer11
XM_011530345.1:c.645del XP_011528647.1:p.Gln216ArgfsTer11
XM_011530346.1:c.618del XP_011528648.1:p.Gln207ArgfsTer11
NM_001007468.2:c.564del NP_001007469.1:p.Gln189ArgfsTer11
NM_001317946.1:c.618del NP_001304875.1:p.Gln207ArgfsTer11
NM_001362877.1:c.645del NP_001349806.1:p.Gln216ArgfsTer11
NM_003073.4:c.591del NP_003064.2:p.Gln198ArgfsTer11
NM_001007468.3:c.564del NP_001007469.1:p.Gln189ArgfsTer11
NM_001317946.2:c.618del NP_001304875.1:p.Gln207ArgfsTer11
NM_001362877.2:c.645del NP_001349806.1:p.Gln216ArgfsTer11
NM_003073.5:c.591del MANE Select NP_003064.2:p.Gln198ArgfsTer11