Canonical Allele Identifier: CA2655715571

Gene: SMARCB1

Linked Data

• gnomAD v4: 22-23834491-C-CAACAGGTCATGTTCAATTTCTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834513_23834514insTAACAGGTCATGTTCAATTTCTT , CM000684.2:g.23834513_23834514insTAACAGGTCATGTTCAATTTCTT	GRCh38
NC_000022.10:g.24176700_24176701insTAACAGGTCATGTTCAATTTCTT , CM000684.1:g.24176700_24176701insTAACAGGTCATGTTCAATTTCTT	GRCh37
NC_000022.9:g.22506700_22506701insTAACAGGTCATGTTCAATTTCTT	NCBI36
NG_009303.1:g.52551_52552insTAACAGGTCATGTTCAATTTCTT , LRG_520:g.52551_52552insTAACAGGTCATGTTCAATTTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407422.8:c.*333_*334insTAACAGGTCATGTTCAATTTCTT	ENSP00000383984.3:n.*333_*334insTAACAGGTCATGTTCAATTTCTT
ENST00000644036.2:c.*333_*334insTAACAGGTCATGTTCAATTTCTT MANE Select	ENSP00000494049.2:n.*333_*334insTAACAGGTCATGTTCAATTTCTT
ENST00000263121.11:c.*333_*334insTAACAGGTCATGTTCAATTTCTT	ENSP00000263121.7:n.*333_*334insTAACAGGTCATGTTCAATTTCTT
ENST00000344921.10:c.*333_*334insTAACAGGTCATGTTCAATTTCTT	ENSP00000340883.6:n.*333_*334insTAACAGGTCATGTTCAATTTCTT
ENST00000407422.7:c.*333_*334insTAACAGGTCATGTTCAATTTCTT	ENSP00000383984.3:n.*333_*334insTAACAGGTCATGTTCAATTTCTT
NM_001007468.1:c.*333_*334insTAACAGGTCATGTTCAATTTCTT	NP_001007469.1:n.*333_*334insTAACAGGTCATGTTCAATTTCTT
NM_003073.3:c.*333_*334insTAACAGGTCATGTTCAATTTCTT , LRG_520t1:c.*333_*334insTAACAGGTCATGTTCAATTTCTT	NP_003064.2:n.*333_*334insTAACAGGTCATGTTCAATTTCTT
XM_011530345.1:c.*333_*334insTAACAGGTCATGTTCAATTTCTT	XP_011528647.1:n.*333_*334insTAACAGGTCATGTTCAATTTCTT
XM_011530346.1:c.*333_*334insTAACAGGTCATGTTCAATTTCTT	XP_011528648.1:n.*333_*334insTAACAGGTCATGTTCAATTTCTT
NM_001007468.2:c.*333_*334insTAACAGGTCATGTTCAATTTCTT	NP_001007469.1:n.*333_*334insTAACAGGTCATGTTCAATTTCTT
NM_001317946.1:c.*333_*334insTAACAGGTCATGTTCAATTTCTT	NP_001304875.1:n.*333_*334insTAACAGGTCATGTTCAATTTCTT
NM_001362877.1:c.*333_*334insTAACAGGTCATGTTCAATTTCTT	NP_001349806.1:n.*333_*334insTAACAGGTCATGTTCAATTTCTT
NM_003073.4:c.*333_*334insTAACAGGTCATGTTCAATTTCTT	NP_003064.2:n.*333_*334insTAACAGGTCATGTTCAATTTCTT
NM_001007468.3:c.*333_*334insTAACAGGTCATGTTCAATTTCTT	NP_001007469.1:n.*333_*334insTAACAGGTCATGTTCAATTTCTT
NM_001317946.2:c.*333_*334insTAACAGGTCATGTTCAATTTCTT	NP_001304875.1:n.*333_*334insTAACAGGTCATGTTCAATTTCTT
NM_001362877.2:c.*333_*334insTAACAGGTCATGTTCAATTTCTT	NP_001349806.1:n.*333_*334insTAACAGGTCATGTTCAATTTCTT
NM_003073.5:c.*333_*334insTAACAGGTCATGTTCAATTTCTT MANE Select	NP_003064.2:n.*333_*334insTAACAGGTCATGTTCAATTTCTT