Canonical Allele Identifier: CA2655706404

Gene: SMARCB1

Linked Data

• gnomAD v4: 22-23793780-A-ATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793780_23793781insTTT , CM000684.2:g.23793780_23793781insTTT	GRCh38
NC_000022.10:g.24135967_24135968insTTT , CM000684.1:g.24135967_24135968insTTT	GRCh37
NC_000022.9:g.22465967_22465968insTTT	NCBI36
NG_009303.1:g.11818_11819insTTT , LRG_520:g.11818_11819insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.362+92_362+93insTTT	ENSP00000263121.8:n.362+92_362+93insTTT
ENST00000344921.11:c.335+92_335+93insTTT	ENSP00000340883.6:n.335+92_335+93insTTT
ENST00000407082.4:c.335+92_335+93insTTT	ENSP00000385226.4:n.335+92_335+93insTTT
ENST00000407422.8:c.335+92_335+93insTTT	ENSP00000383984.3:n.335+92_335+93insTTT
ENST00000417137.6:c.362+92_362+93insTTT	ENSP00000388489.2:n.362+92_362+93insTTT
ENST00000491967.2:n.525+92_525+93insTTT
ENST00000643421.1:n.330+92_330+93insTTT
ENST00000644036.2:c.362+92_362+93insTTT MANE Select	ENSP00000494049.2:n.362+92_362+93insTTT
ENST00000644462.1:c.197+92_197+93insTTT	ENSP00000494283.1:n.197+92_197+93insTTT
ENST00000644619.1:c.362+92_362+93insTTT	ENSP00000494695.1:n.362+92_362+93insTTT
ENST00000646421.1:n.2218+92_2218+93insTTT
ENST00000646723.1:n.350+92_350+93insTTT
ENST00000646911.1:n.274+92_274+93insTTT
ENST00000647057.1:c.93+6518_93+6519insTTT	ENSP00000494757.1:n.93+6518_93+6519insTTT
ENST00000263121.11:c.362+92_362+93insTTT	ENSP00000263121.7:n.362+92_362+93insTTT
ENST00000344921.10:c.335+92_335+93insTTT	ENSP00000340883.6:n.335+92_335+93insTTT
ENST00000407082.3:c.362+92_362+93insTTT	ENSP00000385226.3:n.362+92_362+93insTTT
ENST00000407422.7:c.335+92_335+93insTTT	ENSP00000383984.3:n.335+92_335+93insTTT
ENST00000417137.5:c.362+92_362+93insTTT	ENSP00000388489.1:n.362+92_362+93insTTT
ENST00000491967.1:n.88+92_88+93insTTT
ENST00000634926.1:c.214+92_214+93insTTT
ENST00000635578.1:c.187+92_187+93insTTT
NM_001007468.1:c.335+92_335+93insTTT	NP_001007469.1:n.335+92_335+93insTTT
NM_003073.3:c.362+92_362+93insTTT , LRG_520t1:c.362+92_362+93insTTT	NP_003064.2:n.362+92_362+93insTTT
XM_011530345.1:c.362+92_362+93insTTT	XP_011528647.1:n.362+92_362+93insTTT
XM_011530346.1:c.335+92_335+93insTTT	XP_011528648.1:n.335+92_335+93insTTT
NM_001007468.2:c.335+92_335+93insTTT	NP_001007469.1:n.335+92_335+93insTTT
NM_001317946.1:c.335+92_335+93insTTT	NP_001304875.1:n.335+92_335+93insTTT
NM_001362877.1:c.362+92_362+93insTTT	NP_001349806.1:n.362+92_362+93insTTT
NM_003073.4:c.362+92_362+93insTTT	NP_003064.2:n.362+92_362+93insTTT
NM_001007468.3:c.335+92_335+93insTTT	NP_001007469.1:n.335+92_335+93insTTT
NM_001317946.2:c.335+92_335+93insTTT	NP_001304875.1:n.335+92_335+93insTTT
NM_001362877.2:c.362+92_362+93insTTT	NP_001349806.1:n.362+92_362+93insTTT
NM_003073.5:c.362+92_362+93insTTT MANE Select	NP_003064.2:n.362+92_362+93insTTT