Canonical Allele Identifier: CA645615148

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 532963
• ClinVar RCV Id: RCV000639915 ; RCV002279725
• dbSNP Id: rs1555881563
• COSMIC: COSM5967280
• MyVariant Identifiers: chr22:g.24175838_24175839del (hg19) ; chr22:g.23833651_23833652del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833651_23833652del , CM000684.2:g.23833651_23833652del	GRCh38
NC_000022.10:g.24175838_24175839del , CM000684.1:g.24175838_24175839del	GRCh37
NC_000022.9:g.22505838_22505839del	NCBI36
NG_009303.1:g.51689_51690del , LRG_520:g.51689_51690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.928_929del	ENSP00000263121.8:p.Leu310AspfsTer4
ENST00000344921.11:c.1093_1094del	ENSP00000340883.6:p.Leu365AspfsTer4
ENST00000407422.8:c.1039_1040del	ENSP00000383984.3:p.Leu347AspfsTer4
ENST00000644036.2:c.1066_1067del MANE Select	ENSP00000494049.2:p.Leu356AspfsTer4
ENST00000644462.1:c.1784_1785del	ENSP00000494283.1:n.1784_1785del
ENST00000645799.1:n.2388_2389del
ENST00000646723.1:n.3412_3413del
ENST00000647057.1:c.*560_*561del	ENSP00000494757.1:n.*560_*561del
ENST00000263121.11:c.1066_1067del	ENSP00000263121.7:p.Leu356AspfsTer4
ENST00000344921.10:c.1093_1094del	ENSP00000340883.6:p.Leu365AspfsTer4
ENST00000407082.3:c.928_929del	ENSP00000385226.3:p.Leu310AspfsTer4
ENST00000407422.7:c.1039_1040del	ENSP00000383984.3:p.Leu347AspfsTer4
NM_001007468.1:c.1039_1040del	NP_001007469.1:p.Leu347AspfsTer4
NM_003073.3:c.1066_1067del , LRG_520t1:c.1066_1067del	NP_003064.2:p.Leu356AspfsTer4
XM_011530345.1:c.1120_1121del	XP_011528647.1:p.Leu374AspfsTer4
XM_011530346.1:c.1093_1094del	XP_011528648.1:p.Leu365AspfsTer4
NM_001007468.2:c.1039_1040del	NP_001007469.1:p.Leu347AspfsTer4
NM_001317946.1:c.1093_1094del	NP_001304875.1:p.Leu365AspfsTer4
NM_001362877.1:c.1120_1121del	NP_001349806.1:p.Leu374AspfsTer4
NM_003073.4:c.1066_1067del	NP_003064.2:p.Leu356AspfsTer4
NM_001007468.3:c.1039_1040del	NP_001007469.1:p.Leu347AspfsTer4
NM_001317946.2:c.1093_1094del	NP_001304875.1:p.Leu365AspfsTer4
NM_001362877.2:c.1120_1121del	NP_001349806.1:p.Leu374AspfsTer4
NM_003073.5:c.1066_1067del MANE Select	NP_003064.2:p.Leu356AspfsTer4