Canonical Allele Identifier: CA2397981314

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834490_23834513delinsGCAACAGGTCATGTTCAATTTCTT , CM000684.2:g.23834490_23834513delinsGCAACAGGTCATGTTCAATTTCTT	GRCh38
NC_000022.10:g.24176677_24176700delinsGCAACAGGTCATGTTCAATTTCTT , CM000684.1:g.24176677_24176700delinsGCAACAGGTCATGTTCAATTTCTT	GRCh37
NC_000022.9:g.22506677_22506700delinsGCAACAGGTCATGTTCAATTTCTT	NCBI36
NG_009303.1:g.52528_52551delinsGCAACAGGTCATGTTCAATTTCTT , LRG_520:g.52528_52551delinsGCAACAGGTCATGTTCAATTTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407422.8:c.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT	ENSP00000383984.3:n.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT
ENST00000644036.2:c.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT MANE Select	ENSP00000494049.2:n.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT
ENST00000263121.11:c.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT	ENSP00000263121.7:n.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT
ENST00000344921.10:c.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT	ENSP00000340883.6:n.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT
ENST00000407422.7:c.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT	ENSP00000383984.3:n.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT
NM_001007468.1:c.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT	NP_001007469.1:n.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT
NM_003073.3:c.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT , LRG_520t1:c.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT	NP_003064.2:n.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT
XM_011530345.1:c.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT	XP_011528647.1:n.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT
XM_011530346.1:c.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT	XP_011528648.1:n.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT
NM_001007468.2:c.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT	NP_001007469.1:n.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT
NM_001317946.1:c.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT	NP_001304875.1:n.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT
NM_001362877.1:c.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT	NP_001349806.1:n.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT
NM_003073.4:c.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT	NP_003064.2:n.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT
NM_001007468.3:c.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT	NP_001007469.1:n.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT
NM_001317946.2:c.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT	NP_001304875.1:n.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT
NM_001362877.2:c.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT	NP_001349806.1:n.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT
NM_003073.5:c.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT MANE Select	NP_003064.2:n.*310_*333delinsGCAACAGGTCATGTTCAATTTCTT