Canonical Allele Identifier: CA2397980966

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 1032872
• ClinVar RCV Id: RCV001335091
• dbSNP Id: rs2030790572

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833647_23833648del , CM000684.2:g.23833647_23833648del	GRCh38
NC_000022.10:g.24175834_24175835del , CM000684.1:g.24175834_24175835del	GRCh37
NC_000022.9:g.22505834_22505835del	NCBI36
NG_009303.1:g.51685_51686del , LRG_520:g.51685_51686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.924_925del	ENSP00000263121.8:p.Glu308AspfsTer6
ENST00000344921.11:c.1089_1090del	ENSP00000340883.6:p.Glu363AspfsTer6
ENST00000407422.8:c.1035_1036del	ENSP00000383984.3:p.Glu345AspfsTer6
ENST00000644036.2:c.1062_1063del MANE Select	ENSP00000494049.2:p.Glu354AspfsTer6
ENST00000644462.1:c.1780_1781del	ENSP00000494283.1:n.1780_1781del
ENST00000645799.1:n.2384_2385del
ENST00000646723.1:n.3408_3409del
ENST00000647057.1:c.*556_*557del	ENSP00000494757.1:n.*556_*557del
ENST00000263121.11:c.1062_1063del	ENSP00000263121.7:p.Glu354AspfsTer6
ENST00000344921.10:c.1089_1090del	ENSP00000340883.6:p.Glu363AspfsTer6
ENST00000407082.3:c.924_925del	ENSP00000385226.3:p.Glu308AspfsTer6
ENST00000407422.7:c.1035_1036del	ENSP00000383984.3:p.Glu345AspfsTer6
NM_001007468.1:c.1035_1036del	NP_001007469.1:p.Glu345AspfsTer6
NM_003073.3:c.1062_1063del , LRG_520t1:c.1062_1063del	NP_003064.2:p.Glu354AspfsTer6
XM_011530345.1:c.1116_1117del	XP_011528647.1:p.Glu372AspfsTer6
XM_011530346.1:c.1089_1090del	XP_011528648.1:p.Glu363AspfsTer6
NM_001007468.2:c.1035_1036del	NP_001007469.1:p.Glu345AspfsTer6
NM_001317946.1:c.1089_1090del	NP_001304875.1:p.Glu363AspfsTer6
NM_001362877.1:c.1116_1117del	NP_001349806.1:p.Glu372AspfsTer6
NM_003073.4:c.1062_1063del	NP_003064.2:p.Glu354AspfsTer6
NM_001007468.3:c.1035_1036del	NP_001007469.1:p.Glu345AspfsTer6
NM_001317946.2:c.1089_1090del	NP_001304875.1:p.Glu363AspfsTer6
NM_001362877.2:c.1116_1117del	NP_001349806.1:p.Glu372AspfsTer6
NM_003073.5:c.1062_1063del MANE Select	NP_003064.2:p.Glu354AspfsTer6