Canonical Allele Identifier: CA322592291

Gene: SMARCB1

Linked Data

• dbSNP Id: rs951302705
• gnomAD v2: 22-24129189-TCTG-T
• gnomAD v3: 22-23787002-TCTG-T
• gnomAD v4: 22-23787002-TCTG-T
• MyVariant Identifiers: chr22:g.24129190_24129192del (hg19) ; chr22:g.23787003_23787005del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23787004_23787006del , CM000684.2:g.23787004_23787006del	GRCh38
NC_000022.10:g.24129191_24129193del , CM000684.1:g.24129191_24129193del	GRCh37
NC_000022.9:g.22459191_22459193del	NCBI36
NG_009303.1:g.5042_5044del , LRG_520:g.5042_5044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344921.11:c.-166_-164del	ENSP00000340883.6:n.-166_-164del
ENST00000407422.8:c.-166_-164del	ENSP00000383984.3:n.-166_-164del
ENST00000491967.2:n.25_27del
ENST00000644036.2:c.-166_-164del MANE Select	ENSP00000494049.2:n.-166_-164del
ENST00000644619.1:c.-166_-164del	ENSP00000494695.1:n.-166_-164del
ENST00000646421.1:n.27_29del
ENST00000647057.1:c.-166_-164del	ENSP00000494757.1:n.-166_-164del
ENST00000263121.11:c.-166_-164del	ENSP00000263121.7:n.-166_-164del
ENST00000344921.10:c.-166_-164del	ENSP00000340883.6:n.-166_-164del
ENST00000407422.7:c.-166_-164del	ENSP00000383984.3:n.-166_-164del
ENST00000417137.5:c.-166_-164del	ENSP00000388489.1:n.-166_-164del
NM_001007468.1:c.-166_-164del	NP_001007469.1:n.-166_-164del
NM_003073.3:c.-166_-164del , LRG_520t1:c.-166_-164del	NP_003064.2:n.-166_-164del
XM_011530345.1:c.-166_-164del	XP_011528647.1:n.-166_-164del
XM_011530346.1:c.-166_-164del	XP_011528648.1:n.-166_-164del
NM_001007468.2:c.-166_-164del	NP_001007469.1:n.-166_-164del
NM_001317946.1:c.-166_-164del	NP_001304875.1:n.-166_-164del
NM_001362877.1:c.-166_-164del	NP_001349806.1:n.-166_-164del
NM_003073.4:c.-166_-164del	NP_003064.2:n.-166_-164del
NM_001007468.3:c.-166_-164del	NP_001007469.1:n.-166_-164del
NM_001317946.2:c.-166_-164del	NP_001304875.1:n.-166_-164del
NM_001362877.2:c.-166_-164del	NP_001349806.1:n.-166_-164del
NM_003073.5:c.-166_-164del MANE Select	NP_003064.2:n.-166_-164del