Canonical Allele Identifier: CA513769694

Gene: SMARCB1

Linked Data

• MyVariant Identifiers: chr22:g.24135766_24135767insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793579_23793580insA , CM000684.2:g.23793579_23793580insA	GRCh38
NC_000022.10:g.24135766_24135767insA , CM000684.1:g.24135766_24135767insA	GRCh37
NC_000022.9:g.22465766_22465767insA	NCBI36
NG_009303.1:g.11617_11618insA , LRG_520:g.11617_11618insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.253_254insA	ENSP00000263121.8:p.Ala85AspfsTer21
ENST00000344921.11:c.226_227insA	ENSP00000340883.6:p.Ala76AspfsTer21
ENST00000407082.4:c.226_227insA	ENSP00000385226.4:p.Ala76AspfsTer21
ENST00000407422.8:c.226_227insA	ENSP00000383984.3:p.Ala76AspfsTer21
ENST00000417137.6:c.253_254insA	ENSP00000388489.2:p.Ala85AspfsTer21
ENST00000491967.2:n.416_417insA
ENST00000643421.1:n.221_222insA
ENST00000644036.2:c.253_254insA MANE Select	ENSP00000494049.2:p.Ala85AspfsTer21
ENST00000644462.1:c.88_89insA	ENSP00000494283.1:p.Ala30AspfsTer21
ENST00000644619.1:c.253_254insA	ENSP00000494695.1:p.Ala85AspfsTer21
ENST00000646421.1:n.2109_2110insA
ENST00000646723.1:n.241_242insA
ENST00000646911.1:n.165_166insA
ENST00000647057.1:c.93+6317_93+6318insA	ENSP00000494757.1:n.93+6317_93+6318insA
ENST00000263121.11:c.253_254insA	ENSP00000263121.7:p.Ala85AspfsTer21
ENST00000344921.10:c.226_227insA	ENSP00000340883.6:p.Ala76AspfsTer21
ENST00000407082.3:c.253_254insA	ENSP00000385226.3:p.Ala85AspfsTer21
ENST00000407422.7:c.226_227insA	ENSP00000383984.3:p.Ala76AspfsTer21
ENST00000417137.5:c.253_254insA	ENSP00000388489.1:p.Ala85AspfsTer21
ENST00000634926.1:c.105_106insA
ENST00000635578.1:c.78_79insA
NM_001007468.1:c.226_227insA	NP_001007469.1:p.Ala76AspfsTer21
NM_003073.3:c.253_254insA , LRG_520t1:c.253_254insA	NP_003064.2:p.Ala85AspfsTer21
XM_011530345.1:c.253_254insA	XP_011528647.1:p.Ala85AspfsTer21
XM_011530346.1:c.226_227insA	XP_011528648.1:p.Ala76AspfsTer21
NM_001007468.2:c.226_227insA	NP_001007469.1:p.Ala76AspfsTer21
NM_001317946.1:c.226_227insA	NP_001304875.1:p.Ala76AspfsTer21
NM_001362877.1:c.253_254insA	NP_001349806.1:p.Ala85AspfsTer21
NM_003073.4:c.253_254insA	NP_003064.2:p.Ala85AspfsTer21
NM_001007468.3:c.226_227insA	NP_001007469.1:p.Ala76AspfsTer21
NM_001317946.2:c.226_227insA	NP_001304875.1:p.Ala76AspfsTer21
NM_001362877.2:c.253_254insA	NP_001349806.1:p.Ala85AspfsTer21
NM_003073.5:c.253_254insA MANE Select	NP_003064.2:p.Ala85AspfsTer21