Canonical Allele Identifier: CA2397958143

Gene: SMARCB1

Linked Data

• dbSNP Id: rs1928029582
• gnomAD v4: 22-23787086-CCCTCGGCCCAGCACGCCCCGGCCCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23787089_23787114del , CM000684.2:g.23787089_23787114del	GRCh38
NC_000022.10:g.24129276_24129301del , CM000684.1:g.24129276_24129301del	GRCh37
NC_000022.9:g.22459276_22459301del	NCBI36
NG_009303.1:g.5127_5152del , LRG_520:g.5127_5152del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.-81_-56del	ENSP00000263121.8:n.-81_-56del
ENST00000344921.11:c.-81_-56del	ENSP00000340883.6:n.-81_-56del
ENST00000407082.4:c.-81_-56del	ENSP00000385226.4:n.-81_-56del
ENST00000407422.8:c.-81_-56del	ENSP00000383984.3:n.-81_-56del
ENST00000417137.6:c.-81_-56del	ENSP00000388489.2:n.-81_-56del
ENST00000491967.2:n.110_135del
ENST00000644036.2:c.-81_-56del MANE Select	ENSP00000494049.2:n.-81_-56del
ENST00000644619.1:c.-81_-56del	ENSP00000494695.1:n.-81_-56del
ENST00000646421.1:n.112_137del
ENST00000647057.1:c.-81_-56del	ENSP00000494757.1:n.-81_-56del
ENST00000263121.11:c.-81_-56del	ENSP00000263121.7:n.-81_-56del
ENST00000344921.10:c.-81_-56del	ENSP00000340883.6:n.-81_-56del
ENST00000407082.3:c.-81_-56del	ENSP00000385226.3:n.-81_-56del
ENST00000407422.7:c.-81_-56del	ENSP00000383984.3:n.-81_-56del
ENST00000417137.5:c.-81_-56del	ENSP00000388489.1:n.-81_-56del
NM_001007468.1:c.-81_-56del	NP_001007469.1:n.-81_-56del
NM_003073.3:c.-81_-56del , LRG_520t1:c.-81_-56del	NP_003064.2:n.-81_-56del
XM_011530345.1:c.-81_-56del	XP_011528647.1:n.-81_-56del
XM_011530346.1:c.-81_-56del	XP_011528648.1:n.-81_-56del
NM_001007468.2:c.-81_-56del	NP_001007469.1:n.-81_-56del
NM_001317946.1:c.-81_-56del	NP_001304875.1:n.-81_-56del
NM_001362877.1:c.-81_-56del	NP_001349806.1:n.-81_-56del
NM_003073.4:c.-81_-56del	NP_003064.2:n.-81_-56del
NM_001007468.3:c.-81_-56del	NP_001007469.1:n.-81_-56del
NM_001317946.2:c.-81_-56del	NP_001304875.1:n.-81_-56del
NM_001362877.2:c.-81_-56del	NP_001349806.1:n.-81_-56del
NM_003073.5:c.-81_-56del MANE Select	NP_003064.2:n.-81_-56del