Canonical Allele Identifier: CA1024496029

Gene: SMARCB1

Linked Data

• gnomAD v3: 22-23793781-C-CTTTTTTT
• gnomAD v4: 22-23793781-C-CTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793792_23793798dup , CM000684.2:g.23793792_23793798dup	GRCh38
NC_000022.10:g.24135979_24135985dup , CM000684.1:g.24135979_24135985dup	GRCh37
NC_000022.9:g.22465979_22465985dup	NCBI36
NG_009303.1:g.11830_11836dup , LRG_520:g.11830_11836dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.362+104_362+110dup	ENSP00000263121.8:n.362+104_362+110dup
ENST00000344921.11:c.335+104_335+110dup	ENSP00000340883.6:n.335+104_335+110dup
ENST00000407082.4:c.335+104_335+110dup	ENSP00000385226.4:n.335+104_335+110dup
ENST00000407422.8:c.335+104_335+110dup	ENSP00000383984.3:n.335+104_335+110dup
ENST00000417137.6:c.362+104_362+110dup	ENSP00000388489.2:n.362+104_362+110dup
ENST00000491967.2:n.525+104_525+110dup
ENST00000643421.1:n.330+104_330+110dup
ENST00000644036.2:c.362+104_362+110dup MANE Select	ENSP00000494049.2:n.362+104_362+110dup
ENST00000644462.1:c.197+104_197+110dup	ENSP00000494283.1:n.197+104_197+110dup
ENST00000644619.1:c.362+104_362+110dup	ENSP00000494695.1:n.362+104_362+110dup
ENST00000646421.1:n.2218+104_2218+110dup
ENST00000646723.1:n.350+104_350+110dup
ENST00000646911.1:n.274+104_274+110dup
ENST00000647057.1:c.93+6530_93+6536dup	ENSP00000494757.1:n.93+6530_93+6536dup
ENST00000263121.11:c.362+104_362+110dup	ENSP00000263121.7:n.362+104_362+110dup
ENST00000344921.10:c.335+104_335+110dup	ENSP00000340883.6:n.335+104_335+110dup
ENST00000407082.3:c.362+104_362+110dup	ENSP00000385226.3:n.362+104_362+110dup
ENST00000407422.7:c.335+104_335+110dup	ENSP00000383984.3:n.335+104_335+110dup
ENST00000417137.5:c.362+104_362+110dup	ENSP00000388489.1:n.362+104_362+110dup
ENST00000491967.1:n.88+104_88+110dup
ENST00000634926.1:c.214+104_214+110dup
ENST00000635578.1:c.187+104_187+110dup
NM_001007468.1:c.335+104_335+110dup	NP_001007469.1:n.335+104_335+110dup
NM_003073.3:c.362+104_362+110dup , LRG_520t1:c.362+104_362+110dup	NP_003064.2:n.362+104_362+110dup
XM_011530345.1:c.362+104_362+110dup	XP_011528647.1:n.362+104_362+110dup
XM_011530346.1:c.335+104_335+110dup	XP_011528648.1:n.335+104_335+110dup
NM_001007468.2:c.335+104_335+110dup	NP_001007469.1:n.335+104_335+110dup
NM_001317946.1:c.335+104_335+110dup	NP_001304875.1:n.335+104_335+110dup
NM_001362877.1:c.362+104_362+110dup	NP_001349806.1:n.362+104_362+110dup
NM_003073.4:c.362+104_362+110dup	NP_003064.2:n.362+104_362+110dup
NM_001007468.3:c.335+104_335+110dup	NP_001007469.1:n.335+104_335+110dup
NM_001317946.2:c.335+104_335+110dup	NP_001304875.1:n.335+104_335+110dup
NM_001362877.2:c.362+104_362+110dup	NP_001349806.1:n.362+104_362+110dup
NM_003073.5:c.362+104_362+110dup MANE Select	NP_003064.2:n.362+104_362+110dup