Canonical Allele Identifier: CA322578128

Gene: SMARCB1

Linked Data

• dbSNP Id: rs549745412
• gnomAD v2: 22-24171020-CAT-C
• gnomAD v3: 22-23828833-CAT-C
• gnomAD v4: 22-23828833-CAT-C
• MyVariant Identifiers: chr22:g.24171021_24171022del (hg19) ; chr22:g.23828834_23828835del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23828834_23828835del , CM000684.2:g.23828834_23828835del	GRCh38
NC_000022.10:g.24171021_24171022del , CM000684.1:g.24171021_24171022del	GRCh37
NC_000022.9:g.22501021_22501022del	NCBI36
NG_009303.1:g.46872_46873del , LRG_520:g.46872_46873del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.848+3419_848+3420del	ENSP00000263121.8:n.848+3419_848+3420del
ENST00000344921.11:c.1013+3419_1013+3420del	ENSP00000340883.6:n.1013+3419_1013+3420del
ENST00000407422.8:c.959+3419_959+3420del	ENSP00000383984.3:n.959+3419_959+3420del
ENST00000477836.2:n.2137+3419_2137+3420del
ENST00000644036.2:c.986+3419_986+3420del MANE Select	ENSP00000494049.2:n.986+3419_986+3420del
ENST00000644462.1:c.1704+3419_1704+3420del	ENSP00000494283.1:n.1704+3419_1704+3420del
ENST00000645799.1:n.2308+3419_2308+3420del
ENST00000646723.1:n.3332+3419_3332+3420del
ENST00000647057.1:c.*480+3419_*480+3420del	ENSP00000494757.1:n.*480+3419_*480+3420del
ENST00000263121.11:c.986+3419_986+3420del	ENSP00000263121.7:n.986+3419_986+3420del
ENST00000344921.10:c.1013+3419_1013+3420del	ENSP00000340883.6:n.1013+3419_1013+3420del
ENST00000407082.3:c.848+3419_848+3420del	ENSP00000385226.3:n.848+3419_848+3420del
ENST00000407422.7:c.959+3419_959+3420del	ENSP00000383984.3:n.959+3419_959+3420del
NM_001007468.1:c.959+3419_959+3420del	NP_001007469.1:n.959+3419_959+3420del
NM_003073.3:c.986+3419_986+3420del , LRG_520t1:c.986+3419_986+3420del	NP_003064.2:n.986+3419_986+3420del
XM_011530345.1:c.1040+3419_1040+3420del	XP_011528647.1:n.1040+3419_1040+3420del
XM_011530346.1:c.1013+3419_1013+3420del	XP_011528648.1:n.1013+3419_1013+3420del
NM_001007468.2:c.959+3419_959+3420del	NP_001007469.1:n.959+3419_959+3420del
NM_001317946.1:c.1013+3419_1013+3420del	NP_001304875.1:n.1013+3419_1013+3420del
NM_001362877.1:c.1040+3419_1040+3420del	NP_001349806.1:n.1040+3419_1040+3420del
NM_003073.4:c.986+3419_986+3420del	NP_003064.2:n.986+3419_986+3420del
NM_001007468.3:c.959+3419_959+3420del	NP_001007469.1:n.959+3419_959+3420del
NM_001317946.2:c.1013+3419_1013+3420del	NP_001304875.1:n.1013+3419_1013+3420del
NM_001362877.2:c.1040+3419_1040+3420del	NP_001349806.1:n.1040+3419_1040+3420del
NM_003073.5:c.986+3419_986+3420del MANE Select	NP_003064.2:n.986+3419_986+3420del