Canonical Allele Identifier: CA2580099595

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 1727523
• ClinVar RCV Id: RCV002325863

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834151_23834156del , CM000684.2:g.23834151_23834156del	GRCh38
NC_000022.10:g.24176338_24176343del , CM000684.1:g.24176338_24176343del	GRCh37
NC_000022.9:g.22506338_22506343del	NCBI36
NG_009303.1:g.52189_52194del , LRG_520:g.52189_52194del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.991_996del	ENSP00000263121.8:p.Arg331_Leu332del
ENST00000344921.11:c.1156_1161del	ENSP00000340883.6:p.Arg386_Leu387del
ENST00000407422.8:c.1102_1107del	ENSP00000383984.3:p.Arg368_Leu369del
ENST00000644036.2:c.1129_1134del MANE Select	ENSP00000494049.2:p.Arg377_Leu378del
ENST00000644462.1:c.1847_1852del	ENSP00000494283.1:n.1847_1852del
ENST00000645799.1:n.2451_2456del
ENST00000646723.1:n.3475_3480del
ENST00000647057.1:c.*623_*628del	ENSP00000494757.1:n.*623_*628del
ENST00000263121.11:c.1129_1134del	ENSP00000263121.7:p.Arg377_Leu378del
ENST00000344921.10:c.1156_1161del	ENSP00000340883.6:p.Arg386_Leu387del
ENST00000407082.3:c.991_996del	ENSP00000385226.3:p.Arg331_Leu332del
ENST00000407422.7:c.1102_1107del	ENSP00000383984.3:p.Arg368_Leu369del
NM_001007468.1:c.1102_1107del	NP_001007469.1:p.Arg368_Leu369del
NM_003073.3:c.1129_1134del , LRG_520t1:c.1129_1134del	NP_003064.2:p.Arg377_Leu378del
XM_011530345.1:c.1183_1188del	XP_011528647.1:p.Arg395_Leu396del
XM_011530346.1:c.1156_1161del	XP_011528648.1:p.Arg386_Leu387del
NM_001007468.2:c.1102_1107del	NP_001007469.1:p.Arg368_Leu369del
NM_001317946.1:c.1156_1161del	NP_001304875.1:p.Arg386_Leu387del
NM_001362877.1:c.1183_1188del	NP_001349806.1:p.Arg395_Leu396del
NM_003073.4:c.1129_1134del	NP_003064.2:p.Arg377_Leu378del
NM_001007468.3:c.1102_1107del	NP_001007469.1:p.Arg368_Leu369del
NM_001317946.2:c.1156_1161del	NP_001304875.1:p.Arg386_Leu387del
NM_001362877.2:c.1183_1188del	NP_001349806.1:p.Arg395_Leu396del
NM_003073.5:c.1129_1134del MANE Select	NP_003064.2:p.Arg377_Leu378del