Canonical Allele Identifier: CA1024502890

Gene: SMARCB1

Linked Data

• dbSNP Id: rs2030833563
• gnomAD v3: 22-23834111-G-GACTCATTGCCCTCCCC
• gnomAD v4: 22-23834111-G-GACTCATTGCCCTCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834116_23834131dup , CM000684.2:g.23834116_23834131dup	GRCh38
NC_000022.10:g.24176303_24176318dup , CM000684.1:g.24176303_24176318dup	GRCh37
NC_000022.9:g.22506303_22506318dup	NCBI36
NG_009303.1:g.52154_52169dup , LRG_520:g.52154_52169dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.981-25_981-10dup	ENSP00000263121.8:n.981-25_981-10dup
ENST00000344921.11:c.1146-25_1146-10dup	ENSP00000340883.6:n.1146-25_1146-10dup
ENST00000407422.8:c.1092-25_1092-10dup	ENSP00000383984.3:n.1092-25_1092-10dup
ENST00000644036.2:c.1119-25_1119-10dup MANE Select	ENSP00000494049.2:n.1119-25_1119-10dup
ENST00000644462.1:c.1837-25_1837-10dup	ENSP00000494283.1:n.1837-25_1837-10dup
ENST00000645799.1:n.2441-25_2441-10dup
ENST00000646723.1:n.3465-25_3465-10dup
ENST00000647057.1:c.*613-25_*613-10dup	ENSP00000494757.1:n.*613-25_*613-10dup
ENST00000263121.11:c.1119-25_1119-10dup	ENSP00000263121.7:n.1119-25_1119-10dup
ENST00000344921.10:c.1146-25_1146-10dup	ENSP00000340883.6:n.1146-25_1146-10dup
ENST00000407082.3:c.981-25_981-10dup	ENSP00000385226.3:n.981-25_981-10dup
ENST00000407422.7:c.1092-25_1092-10dup	ENSP00000383984.3:n.1092-25_1092-10dup
NM_001007468.1:c.1092-25_1092-10dup	NP_001007469.1:n.1092-25_1092-10dup
NM_003073.3:c.1119-25_1119-10dup , LRG_520t1:c.1119-25_1119-10dup	NP_003064.2:n.1119-25_1119-10dup
XM_011530345.1:c.1173-25_1173-10dup	XP_011528647.1:n.1173-25_1173-10dup
XM_011530346.1:c.1146-25_1146-10dup	XP_011528648.1:n.1146-25_1146-10dup
NM_001007468.2:c.1092-25_1092-10dup	NP_001007469.1:n.1092-25_1092-10dup
NM_001317946.1:c.1146-25_1146-10dup	NP_001304875.1:n.1146-25_1146-10dup
NM_001362877.1:c.1173-25_1173-10dup	NP_001349806.1:n.1173-25_1173-10dup
NM_003073.4:c.1119-25_1119-10dup	NP_003064.2:n.1119-25_1119-10dup
NM_001007468.3:c.1092-25_1092-10dup	NP_001007469.1:n.1092-25_1092-10dup
NM_001317946.2:c.1146-25_1146-10dup	NP_001304875.1:n.1146-25_1146-10dup
NM_001362877.2:c.1173-25_1173-10dup	NP_001349806.1:n.1173-25_1173-10dup
NM_003073.5:c.1119-25_1119-10dup MANE Select	NP_003064.2:n.1119-25_1119-10dup