Canonical Allele Identifier: CA1024496033

Gene: SMARCB1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793791_23793798dup , CM000684.2:g.23793791_23793798dup	GRCh38
NC_000022.10:g.24135978_24135985dup , CM000684.1:g.24135978_24135985dup	GRCh37
NC_000022.9:g.22465978_22465985dup	NCBI36
NG_009303.1:g.11829_11836dup , LRG_520:g.11829_11836dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.362+103_362+110dup	ENSP00000263121.8:n.362+103_362+110dup
ENST00000344921.11:c.335+103_335+110dup	ENSP00000340883.6:n.335+103_335+110dup
ENST00000407082.4:c.335+103_335+110dup	ENSP00000385226.4:n.335+103_335+110dup
ENST00000407422.8:c.335+103_335+110dup	ENSP00000383984.3:n.335+103_335+110dup
ENST00000417137.6:c.362+103_362+110dup	ENSP00000388489.2:n.362+103_362+110dup
ENST00000491967.2:n.525+103_525+110dup
ENST00000643421.1:n.330+103_330+110dup
ENST00000644036.2:c.362+103_362+110dup MANE Select	ENSP00000494049.2:n.362+103_362+110dup
ENST00000644462.1:c.197+103_197+110dup	ENSP00000494283.1:n.197+103_197+110dup
ENST00000644619.1:c.362+103_362+110dup	ENSP00000494695.1:n.362+103_362+110dup
ENST00000646421.1:n.2218+103_2218+110dup
ENST00000646723.1:n.350+103_350+110dup
ENST00000646911.1:n.274+103_274+110dup
ENST00000647057.1:c.93+6529_93+6536dup	ENSP00000494757.1:n.93+6529_93+6536dup
ENST00000263121.11:c.362+103_362+110dup	ENSP00000263121.7:n.362+103_362+110dup
ENST00000344921.10:c.335+103_335+110dup	ENSP00000340883.6:n.335+103_335+110dup
ENST00000407082.3:c.362+103_362+110dup	ENSP00000385226.3:n.362+103_362+110dup
ENST00000407422.7:c.335+103_335+110dup	ENSP00000383984.3:n.335+103_335+110dup
ENST00000417137.5:c.362+103_362+110dup	ENSP00000388489.1:n.362+103_362+110dup
ENST00000491967.1:n.88+103_88+110dup
ENST00000634926.1:c.214+103_214+110dup
ENST00000635578.1:c.187+103_187+110dup
NM_001007468.1:c.335+103_335+110dup	NP_001007469.1:n.335+103_335+110dup
NM_003073.3:c.362+103_362+110dup , LRG_520t1:c.362+103_362+110dup	NP_003064.2:n.362+103_362+110dup
XM_011530345.1:c.362+103_362+110dup	XP_011528647.1:n.362+103_362+110dup
XM_011530346.1:c.335+103_335+110dup	XP_011528648.1:n.335+103_335+110dup
NM_001007468.2:c.335+103_335+110dup	NP_001007469.1:n.335+103_335+110dup
NM_001317946.1:c.335+103_335+110dup	NP_001304875.1:n.335+103_335+110dup
NM_001362877.1:c.362+103_362+110dup	NP_001349806.1:n.362+103_362+110dup
NM_003073.4:c.362+103_362+110dup	NP_003064.2:n.362+103_362+110dup
NM_001007468.3:c.335+103_335+110dup	NP_001007469.1:n.335+103_335+110dup
NM_001317946.2:c.335+103_335+110dup	NP_001304875.1:n.335+103_335+110dup
NM_001362877.2:c.362+103_362+110dup	NP_001349806.1:n.362+103_362+110dup
NM_003073.5:c.362+103_362+110dup MANE Select	NP_003064.2:n.362+103_362+110dup