Canonical Allele Identifier: CA2499226037

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 1012324
• ClinVar RCV Id: RCV001594445
• dbSNP Id: rs2146042583

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833669_23833671del , CM000684.2:g.23833669_23833671del	GRCh38
NC_000022.10:g.24175856_24175858del , CM000684.1:g.24175856_24175858del	GRCh37
NC_000022.9:g.22505856_22505858del	NCBI36
NG_009303.1:g.51707_51709del , LRG_520:g.51707_51709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.946_948del	ENSP00000263121.8:p.Glu316del
ENST00000344921.11:c.1111_1113del	ENSP00000340883.6:p.Glu371del
ENST00000407422.8:c.1057_1059del	ENSP00000383984.3:p.Glu353del
ENST00000644036.2:c.1084_1086del MANE Select	ENSP00000494049.2:p.Glu362del
ENST00000644462.1:c.1802_1804del	ENSP00000494283.1:n.1802_1804del
ENST00000645799.1:n.2406_2408del
ENST00000646723.1:n.3430_3432del
ENST00000647057.1:c.*578_*580del	ENSP00000494757.1:n.*578_*580del
ENST00000263121.11:c.1084_1086del	ENSP00000263121.7:p.Glu362del
ENST00000344921.10:c.1111_1113del	ENSP00000340883.6:p.Glu371del
ENST00000407082.3:c.946_948del	ENSP00000385226.3:p.Glu316del
ENST00000407422.7:c.1057_1059del	ENSP00000383984.3:p.Glu353del
NM_001007468.1:c.1057_1059del	NP_001007469.1:p.Glu353del
NM_003073.3:c.1084_1086del , LRG_520t1:c.1084_1086del	NP_003064.2:p.Glu362del
XM_011530345.1:c.1138_1140del	XP_011528647.1:p.Glu380del
XM_011530346.1:c.1111_1113del	XP_011528648.1:p.Glu371del
NM_001007468.2:c.1057_1059del	NP_001007469.1:p.Glu353del
NM_001317946.1:c.1111_1113del	NP_001304875.1:p.Glu371del
NM_001362877.1:c.1138_1140del	NP_001349806.1:p.Glu380del
NM_003073.4:c.1084_1086del	NP_003064.2:p.Glu362del
NM_001007468.3:c.1057_1059del	NP_001007469.1:p.Glu353del
NM_001317946.2:c.1111_1113del	NP_001304875.1:p.Glu371del
NM_001362877.2:c.1138_1140del	NP_001349806.1:p.Glu380del
NM_003073.5:c.1084_1086del MANE Select	NP_003064.2:p.Glu362del