Canonical Allele Identifier: CA2580099271

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 2126576
• ClinVar RCV Id: RCV003051728

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23803380_23803381delinsAT , CM000684.2:g.23803380_23803381delinsAT	GRCh38
NC_000022.10:g.24145567_24145568delinsAT , CM000684.1:g.24145567_24145568delinsAT	GRCh37
NC_000022.9:g.22475567_22475568delinsAT	NCBI36
NG_009303.1:g.21418_21419delinsAT , LRG_520:g.21418_21419delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.448_449delinsAT	ENSP00000263121.8:p.Asp150Ile
ENST00000344921.11:c.613_614delinsAT	ENSP00000340883.6:p.Asp205Ile
ENST00000407082.4:c.421_422delinsAT	ENSP00000385226.4:p.Asp141Ile
ENST00000407422.8:c.559_560delinsAT	ENSP00000383984.3:p.Asp187Ile
ENST00000417137.6:c.640_641delinsAT	ENSP00000388489.2:p.Asp214Ile
ENST00000642275.1:n.834_835delinsAT
ENST00000642727.1:c.752_753delinsAT	ENSP00000495144.1:n.752_753delinsAT
ENST00000643421.1:n.554_555delinsAT
ENST00000644036.2:c.586_587delinsAT MANE Select	ENSP00000494049.2:p.Asp196Ile
ENST00000644462.1:c.1304_1305delinsAT	ENSP00000494283.1:n.1304_1305delinsAT
ENST00000644467.1:n.1380_1381delinsAT
ENST00000644619.1:c.*653_*654delinsAT	ENSP00000494695.1:n.*653_*654delinsAT
ENST00000646723.1:n.2787_2788delinsAT
ENST00000646911.1:n.498_499delinsAT
ENST00000647057.1:c.*80_*81delinsAT	ENSP00000494757.1:n.*80_*81delinsAT
ENST00000263121.11:c.586_587delinsAT	ENSP00000263121.7:p.Asp196Ile
ENST00000344921.10:c.613_614delinsAT	ENSP00000340883.6:p.Asp205Ile
ENST00000407082.3:c.448_449delinsAT	ENSP00000385226.3:p.Asp150Ile
ENST00000407422.7:c.559_560delinsAT	ENSP00000383984.3:p.Asp187Ile
ENST00000417137.5:c.640_641delinsAT	ENSP00000388489.1:p.Asp214Ile
NM_001007468.1:c.559_560delinsAT	NP_001007469.1:p.Asp187Ile
NM_003073.3:c.586_587delinsAT , LRG_520t1:c.586_587delinsAT	NP_003064.2:p.Asp196Ile
XM_011530345.1:c.640_641delinsAT	XP_011528647.1:p.Asp214Ile
XM_011530346.1:c.613_614delinsAT	XP_011528648.1:p.Asp205Ile
NM_001007468.2:c.559_560delinsAT	NP_001007469.1:p.Asp187Ile
NM_001317946.1:c.613_614delinsAT	NP_001304875.1:p.Asp205Ile
NM_001362877.1:c.640_641delinsAT	NP_001349806.1:p.Asp214Ile
NM_003073.4:c.586_587delinsAT	NP_003064.2:p.Asp196Ile
NM_001007468.3:c.559_560delinsAT	NP_001007469.1:p.Asp187Ile
NM_001317946.2:c.613_614delinsAT	NP_001304875.1:p.Asp205Ile
NM_001362877.2:c.640_641delinsAT	NP_001349806.1:p.Asp214Ile
NM_003073.5:c.586_587delinsAT MANE Select	NP_003064.2:p.Asp196Ile