Canonical Allele Identifier: CA1024503248

Gene: SMARCB1

Linked Data

• dbSNP Id: rs2030861703
• gnomAD v3: 22-23834380-CTCCCTA-C
• gnomAD v4: 22-23834380-CTCCCTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834381_23834386del , CM000684.2:g.23834381_23834386del	GRCh38
NC_000022.10:g.24176568_24176573del , CM000684.1:g.24176568_24176573del	GRCh37
NC_000022.9:g.22506568_22506573del	NCBI36
NG_009303.1:g.52419_52424del , LRG_520:g.52419_52424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.*201_*206del	ENSP00000263121.8:n.*201_*206del
ENST00000344921.11:c.*201_*206del	ENSP00000340883.6:n.*201_*206del
ENST00000407422.8:c.*201_*206del	ENSP00000383984.3:n.*201_*206del
ENST00000644036.2:c.*201_*206del MANE Select	ENSP00000494049.2:n.*201_*206del
ENST00000647057.1:c.*853_*858del	ENSP00000494757.1:n.*853_*858del
ENST00000263121.11:c.*201_*206del	ENSP00000263121.7:n.*201_*206del
ENST00000344921.10:c.*201_*206del	ENSP00000340883.6:n.*201_*206del
ENST00000407422.7:c.*201_*206del	ENSP00000383984.3:n.*201_*206del
NM_001007468.1:c.*201_*206del	NP_001007469.1:n.*201_*206del
NM_003073.3:c.*201_*206del , LRG_520t1:c.*201_*206del	NP_003064.2:n.*201_*206del
XM_011530345.1:c.*201_*206del	XP_011528647.1:n.*201_*206del
XM_011530346.1:c.*201_*206del	XP_011528648.1:n.*201_*206del
NM_001007468.2:c.*201_*206del	NP_001007469.1:n.*201_*206del
NM_001317946.1:c.*201_*206del	NP_001304875.1:n.*201_*206del
NM_001362877.1:c.*201_*206del	NP_001349806.1:n.*201_*206del
NM_003073.4:c.*201_*206del	NP_003064.2:n.*201_*206del
NM_001007468.3:c.*201_*206del	NP_001007469.1:n.*201_*206del
NM_001317946.2:c.*201_*206del	NP_001304875.1:n.*201_*206del
NM_001362877.2:c.*201_*206del	NP_001349806.1:n.*201_*206del
NM_003073.5:c.*201_*206del MANE Select	NP_003064.2:n.*201_*206del