Canonical Allele Identifier: CA645615152

Gene: SMARCB1

Linked Data

• COSMIC: COSM1080

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834147_23834154dup , CM000684.2:g.23834147_23834154dup	GRCh38
NC_000022.10:g.24176334_24176341dup , CM000684.1:g.24176334_24176341dup	GRCh37
NC_000022.9:g.22506334_22506341dup	NCBI36
NG_009303.1:g.52185_52192dup , LRG_520:g.52185_52192dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.987_994dup	ENSP00000263121.8:p.Leu332ArgfsTer?
ENST00000344921.11:c.1152_1159dup	ENSP00000340883.6:p.Leu387ArgfsTer?
ENST00000407422.8:c.1098_1105dup	ENSP00000383984.3:p.Leu369ArgfsTer?
ENST00000644036.2:c.1125_1132dup MANE Select	ENSP00000494049.2:p.Leu378ArgfsTer?
ENST00000644462.1:c.1843_1850dup	ENSP00000494283.1:n.1843_1850dup
ENST00000645799.1:n.2447_2454dup
ENST00000646723.1:n.3471_3478dup
ENST00000647057.1:c.*619_*626dup	ENSP00000494757.1:n.*619_*626dup
ENST00000263121.11:c.1125_1132dup	ENSP00000263121.7:p.Leu378ArgfsTer?
ENST00000344921.10:c.1152_1159dup	ENSP00000340883.6:p.Leu387ArgfsTer?
ENST00000407082.3:c.987_994dup	ENSP00000385226.3:p.Leu332ArgfsTer?
ENST00000407422.7:c.1098_1105dup	ENSP00000383984.3:p.Leu369ArgfsTer?
NM_001007468.1:c.1098_1105dup	NP_001007469.1:p.Leu369ArgfsTer?
NM_003073.3:c.1125_1132dup , LRG_520t1:c.1125_1132dup	NP_003064.2:p.Leu378ArgfsTer?
XM_011530345.1:c.1179_1186dup	XP_011528647.1:p.Leu396ArgfsTer?
XM_011530346.1:c.1152_1159dup	XP_011528648.1:p.Leu387ArgfsTer?
NM_001007468.2:c.1098_1105dup	NP_001007469.1:p.Leu369ArgfsTer?
NM_001317946.1:c.1152_1159dup	NP_001304875.1:p.Leu387ArgfsTer?
NM_001362877.1:c.1179_1186dup	NP_001349806.1:p.Leu396ArgfsTer?
NM_003073.4:c.1125_1132dup	NP_003064.2:p.Leu378ArgfsTer?
NM_001007468.3:c.1098_1105dup	NP_001007469.1:p.Leu369ArgfsTer?
NM_001317946.2:c.1152_1159dup	NP_001304875.1:p.Leu387ArgfsTer?
NM_001362877.2:c.1179_1186dup	NP_001349806.1:p.Leu396ArgfsTer?
NM_003073.5:c.1125_1132dup MANE Select	NP_003064.2:p.Leu378ArgfsTer?