Canonical Allele Identifier: CA2397980995

Gene: SMARCB1

Linked Data

• dbSNP Id: rs2030819800

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833994_23834012del , CM000684.2:g.23833994_23834012del	GRCh38
NC_000022.10:g.24176181_24176199del , CM000684.1:g.24176181_24176199del	GRCh37
NC_000022.9:g.22506181_22506199del	NCBI36
NG_009303.1:g.52032_52050del , LRG_520:g.52032_52050del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.981-147_981-129del	ENSP00000263121.8:n.981-147_981-129del
ENST00000344921.11:c.1146-147_1146-129del	ENSP00000340883.6:n.1146-147_1146-129del
ENST00000407422.8:c.1092-147_1092-129del	ENSP00000383984.3:n.1092-147_1092-129del
ENST00000644036.2:c.1119-147_1119-129del MANE Select	ENSP00000494049.2:n.1119-147_1119-129del
ENST00000644462.1:c.1837-147_1837-129del	ENSP00000494283.1:n.1837-147_1837-129del
ENST00000645799.1:n.2441-147_2441-129del
ENST00000646723.1:n.3465-147_3465-129del
ENST00000647057.1:c.*613-147_*613-129del	ENSP00000494757.1:n.*613-147_*613-129del
ENST00000263121.11:c.1119-147_1119-129del	ENSP00000263121.7:n.1119-147_1119-129del
ENST00000344921.10:c.1146-147_1146-129del	ENSP00000340883.6:n.1146-147_1146-129del
ENST00000407082.3:c.981-147_981-129del	ENSP00000385226.3:n.981-147_981-129del
ENST00000407422.7:c.1092-147_1092-129del	ENSP00000383984.3:n.1092-147_1092-129del
NM_001007468.1:c.1092-147_1092-129del	NP_001007469.1:n.1092-147_1092-129del
NM_003073.3:c.1119-147_1119-129del , LRG_520t1:c.1119-147_1119-129del	NP_003064.2:n.1119-147_1119-129del
XM_011530345.1:c.1173-147_1173-129del	XP_011528647.1:n.1173-147_1173-129del
XM_011530346.1:c.1146-147_1146-129del	XP_011528648.1:n.1146-147_1146-129del
NM_001007468.2:c.1092-147_1092-129del	NP_001007469.1:n.1092-147_1092-129del
NM_001317946.1:c.1146-147_1146-129del	NP_001304875.1:n.1146-147_1146-129del
NM_001362877.1:c.1173-147_1173-129del	NP_001349806.1:n.1173-147_1173-129del
NM_003073.4:c.1119-147_1119-129del	NP_003064.2:n.1119-147_1119-129del
NM_001007468.3:c.1092-147_1092-129del	NP_001007469.1:n.1092-147_1092-129del
NM_001317946.2:c.1146-147_1146-129del	NP_001304875.1:n.1146-147_1146-129del
NM_001362877.2:c.1173-147_1173-129del	NP_001349806.1:n.1173-147_1173-129del
NM_003073.5:c.1119-147_1119-129del MANE Select	NP_003064.2:n.1119-147_1119-129del