Canonical Allele Identifier: CA119226
Gene: SMARCB1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23825380del , CM000684.2:g.23825380del GRCh38
NC_000022.10:g.24167567del , CM000684.1:g.24167567del GRCh37
NC_000022.9:g.22497567del NCBI36
NG_009303.1:g.43418del , LRG_520:g.43418del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.813del ENSP00000263121.8:p.Gln272SerfsTer2
ENST00000344921.11:c.978del ENSP00000340883.6:p.Gln327SerfsTer2
ENST00000407422.8:c.924del ENSP00000383984.3:p.Gln309SerfsTer2
ENST00000477836.2:n.2102del
ENST00000644036.2:c.951del MANE Select ENSP00000494049.2:p.Gln318SerfsTer2
ENST00000644462.1:c.1669del ENSP00000494283.1:n.1669del
ENST00000645799.1:n.2273del
ENST00000646723.1:n.3297del
ENST00000646911.1:n.863del
ENST00000647057.1:c.*445del ENSP00000494757.1:n.*445del
ENST00000263121.11:c.951del ENSP00000263121.7:p.Gln318SerfsTer2
ENST00000344921.10:c.978del ENSP00000340883.6:p.Gln327SerfsTer2
ENST00000407082.3:c.813del ENSP00000385226.3:p.Gln272SerfsTer2
ENST00000407422.7:c.924del ENSP00000383984.3:p.Gln309SerfsTer2
NM_001007468.1:c.924del NP_001007469.1:p.Gln309SerfsTer2
NM_003073.3:c.951del , LRG_520t1:c.951del NP_003064.2:p.Gln318SerfsTer2
XM_011530345.1:c.1005del XP_011528647.1:p.Gln336SerfsTer2
XM_011530346.1:c.978del XP_011528648.1:p.Gln327SerfsTer2
NM_001007468.2:c.924del NP_001007469.1:p.Gln309SerfsTer2
NM_001317946.1:c.978del NP_001304875.1:p.Gln327SerfsTer2
NM_001362877.1:c.1005del NP_001349806.1:p.Gln336SerfsTer2
NM_003073.4:c.951del NP_003064.2:p.Gln318SerfsTer2
NM_001007468.3:c.924del NP_001007469.1:p.Gln309SerfsTer2
NM_001317946.2:c.978del NP_001304875.1:p.Gln327SerfsTer2
NM_001362877.2:c.1005del NP_001349806.1:p.Gln336SerfsTer2
NM_003073.5:c.951del MANE Select NP_003064.2:p.Gln318SerfsTer2
Search 100 bp 5'
Search 100 bp 3'