Canonical Allele Identifier: CA1024503431

Gene: SMARCB1

Linked Data

• gnomAD v3: 22-23834394-C-CCCCCCCCCCCT
• gnomAD v4: 22-23834394-C-CCCCCCCCCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834395_23834396insCCCCCCCCCTC , CM000684.2:g.23834395_23834396insCCCCCCCCCTC	GRCh38
NC_000022.10:g.24176582_24176583insCCCCCCCCCTC , CM000684.1:g.24176582_24176583insCCCCCCCCCTC	GRCh37
NC_000022.9:g.22506582_22506583insCCCCCCCCCTC	NCBI36
NG_009303.1:g.52433_52434insCCCCCCCCCTC , LRG_520:g.52433_52434insCCCCCCCCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.*215_*216insCCCCCCCCCTC	ENSP00000263121.8:n.*215_*216insCCCCCCCCCTC
ENST00000344921.11:c.*215_*216insCCCCCCCCCTC	ENSP00000340883.6:n.*215_*216insCCCCCCCCCTC
ENST00000407422.8:c.*215_*216insCCCCCCCCCTC	ENSP00000383984.3:n.*215_*216insCCCCCCCCCTC
ENST00000644036.2:c.*215_*216insCCCCCCCCCTC MANE Select	ENSP00000494049.2:n.*215_*216insCCCCCCCCCTC
ENST00000647057.1:c.*867_*868insCCCCCCCCCTC	ENSP00000494757.1:n.*867_*868insCCCCCCCCCTC
ENST00000263121.11:c.*215_*216insCCCCCCCCCTC	ENSP00000263121.7:n.*215_*216insCCCCCCCCCTC
ENST00000344921.10:c.*215_*216insCCCCCCCCCTC	ENSP00000340883.6:n.*215_*216insCCCCCCCCCTC
ENST00000407422.7:c.*215_*216insCCCCCCCCCTC	ENSP00000383984.3:n.*215_*216insCCCCCCCCCTC
NM_001007468.1:c.*215_*216insCCCCCCCCCTC	NP_001007469.1:n.*215_*216insCCCCCCCCCTC
NM_003073.3:c.*215_*216insCCCCCCCCCTC , LRG_520t1:c.*215_*216insCCCCCCCCCTC	NP_003064.2:n.*215_*216insCCCCCCCCCTC
XM_011530345.1:c.*215_*216insCCCCCCCCCTC	XP_011528647.1:n.*215_*216insCCCCCCCCCTC
XM_011530346.1:c.*215_*216insCCCCCCCCCTC	XP_011528648.1:n.*215_*216insCCCCCCCCCTC
NM_001007468.2:c.*215_*216insCCCCCCCCCTC	NP_001007469.1:n.*215_*216insCCCCCCCCCTC
NM_001317946.1:c.*215_*216insCCCCCCCCCTC	NP_001304875.1:n.*215_*216insCCCCCCCCCTC
NM_001362877.1:c.*215_*216insCCCCCCCCCTC	NP_001349806.1:n.*215_*216insCCCCCCCCCTC
NM_003073.4:c.*215_*216insCCCCCCCCCTC	NP_003064.2:n.*215_*216insCCCCCCCCCTC
NM_001007468.3:c.*215_*216insCCCCCCCCCTC	NP_001007469.1:n.*215_*216insCCCCCCCCCTC
NM_001317946.2:c.*215_*216insCCCCCCCCCTC	NP_001304875.1:n.*215_*216insCCCCCCCCCTC
NM_001362877.2:c.*215_*216insCCCCCCCCCTC	NP_001349806.1:n.*215_*216insCCCCCCCCCTC
NM_003073.5:c.*215_*216insCCCCCCCCCTC MANE Select	NP_003064.2:n.*215_*216insCCCCCCCCCTC