Canonical Allele Identifier: CA513739834

Gene: SMARCB1

Linked Data

• COSMIC: COSM27977
• MyVariant Identifiers: chr22:g.24176339del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834152del , CM000684.2:g.23834152del	GRCh38
NC_000022.10:g.24176339del , CM000684.1:g.24176339del	GRCh37
NC_000022.9:g.22506339del	NCBI36
NG_009303.1:g.52190del , LRG_520:g.52190del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.992del	ENSP00000263121.8:p.Arg331LeufsTer?
ENST00000344921.11:c.1157del	ENSP00000340883.6:p.Arg386LeufsTer?
ENST00000407422.8:c.1103del	ENSP00000383984.3:p.Arg368LeufsTer?
ENST00000644036.2:c.1130del MANE Select	ENSP00000494049.2:p.Arg377LeufsTer?
ENST00000644462.1:c.1848del	ENSP00000494283.1:n.1848del
ENST00000645799.1:n.2452del
ENST00000646723.1:n.3476del
ENST00000647057.1:c.*624del	ENSP00000494757.1:n.*624del
ENST00000263121.11:c.1130del	ENSP00000263121.7:p.Arg377LeufsTer?
ENST00000344921.10:c.1157del	ENSP00000340883.6:p.Arg386LeufsTer?
ENST00000407082.3:c.992del	ENSP00000385226.3:p.Arg331LeufsTer?
ENST00000407422.7:c.1103del	ENSP00000383984.3:p.Arg368LeufsTer?
NM_001007468.1:c.1103del	NP_001007469.1:p.Arg368LeufsTer?
NM_003073.3:c.1130del , LRG_520t1:c.1130del	NP_003064.2:p.Arg377LeufsTer?
XM_011530345.1:c.1184del	XP_011528647.1:p.Arg395LeufsTer?
XM_011530346.1:c.1157del	XP_011528648.1:p.Arg386LeufsTer?
NM_001007468.2:c.1103del	NP_001007469.1:p.Arg368LeufsTer?
NM_001317946.1:c.1157del	NP_001304875.1:p.Arg386LeufsTer?
NM_001362877.1:c.1184del	NP_001349806.1:p.Arg395LeufsTer?
NM_003073.4:c.1130del	NP_003064.2:p.Arg377LeufsTer?
NM_001007468.3:c.1103del	NP_001007469.1:p.Arg368LeufsTer?
NM_001317946.2:c.1157del	NP_001304875.1:p.Arg386LeufsTer?
NM_001362877.2:c.1184del	NP_001349806.1:p.Arg395LeufsTer?
NM_003073.5:c.1130del MANE Select	NP_003064.2:p.Arg377LeufsTer?