Canonical Allele Identifier: CA2397961212
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23793270_23793273delinsTGTA , CM000684.2:g.23793270_23793273delinsTGTA GRCh38
NC_000022.10:g.24135457_24135460delinsTGTA , CM000684.1:g.24135457_24135460delinsTGTA GRCh37
NC_000022.9:g.22465457_22465460delinsTGTA NCBI36
NG_009303.1:g.11308_11311delinsTGTA , LRG_520:g.11308_11311delinsTGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.233-289_233-286delinsTGTA ENSP00000263121.8:n.233-289_233-286delinsTGTA
ENST00000344921.11:c.206-289_206-286delinsTGTA ENSP00000340883.6:n.206-289_206-286delinsTGTA
ENST00000407082.4:c.206-289_206-286delinsTGTA ENSP00000385226.4:n.206-289_206-286delinsTGTA
ENST00000407422.8:c.206-289_206-286delinsTGTA ENSP00000383984.3:n.206-289_206-286delinsTGTA
ENST00000417137.6:c.233-289_233-286delinsTGTA ENSP00000388489.2:n.233-289_233-286delinsTGTA
ENST00000491967.2:n.396-289_396-286delinsTGTA
ENST00000643421.1:n.201-289_201-286delinsTGTA
ENST00000644036.2:c.233-289_233-286delinsTGTA MANE Select ENSP00000494049.2:n.233-289_233-286delinsTGTA
ENST00000644462.1:c.68-289_68-286delinsTGTA ENSP00000494283.1:n.68-289_68-286delinsTGTA
ENST00000644619.1:c.233-289_233-286delinsTGTA ENSP00000494695.1:n.233-289_233-286delinsTGTA
ENST00000646421.1:n.1800_1803delinsTGTA
ENST00000646723.1:n.221-289_221-286delinsTGTA
ENST00000646911.1:n.145-289_145-286delinsTGTA
ENST00000647057.1:c.93+6008_93+6011delinsTGTA ENSP00000494757.1:n.93+6008_93+6011delinsTGTA
ENST00000263121.11:c.233-289_233-286delinsTGTA ENSP00000263121.7:n.233-289_233-286delinsTGTA
ENST00000344921.10:c.206-289_206-286delinsTGTA ENSP00000340883.6:n.206-289_206-286delinsTGTA
ENST00000407082.3:c.233-289_233-286delinsTGTA ENSP00000385226.3:n.233-289_233-286delinsTGTA
ENST00000407422.7:c.206-289_206-286delinsTGTA ENSP00000383984.3:n.206-289_206-286delinsTGTA
ENST00000417137.5:c.233-289_233-286delinsTGTA ENSP00000388489.1:n.233-289_233-286delinsTGTA
ENST00000634926.1:c.85-289_85-286delinsTGTA
ENST00000635578.1:c.58-289_58-286delinsTGTA
NM_001007468.1:c.206-289_206-286delinsTGTA NP_001007469.1:n.206-289_206-286delinsTGTA
NM_003073.3:c.233-289_233-286delinsTGTA , LRG_520t1:c.233-289_233-286delinsTGTA NP_003064.2:n.233-289_233-286delinsTGTA
XM_011530345.1:c.233-289_233-286delinsTGTA XP_011528647.1:n.233-289_233-286delinsTGTA
XM_011530346.1:c.206-289_206-286delinsTGTA XP_011528648.1:n.206-289_206-286delinsTGTA
NM_001007468.2:c.206-289_206-286delinsTGTA NP_001007469.1:n.206-289_206-286delinsTGTA
NM_001317946.1:c.206-289_206-286delinsTGTA NP_001304875.1:n.206-289_206-286delinsTGTA
NM_001362877.1:c.233-289_233-286delinsTGTA NP_001349806.1:n.233-289_233-286delinsTGTA
NM_003073.4:c.233-289_233-286delinsTGTA NP_003064.2:n.233-289_233-286delinsTGTA
NM_001007468.3:c.206-289_206-286delinsTGTA NP_001007469.1:n.206-289_206-286delinsTGTA
NM_001317946.2:c.206-289_206-286delinsTGTA NP_001304875.1:n.206-289_206-286delinsTGTA
NM_001362877.2:c.233-289_233-286delinsTGTA NP_001349806.1:n.233-289_233-286delinsTGTA
NM_003073.5:c.233-289_233-286delinsTGTA MANE Select NP_003064.2:n.233-289_233-286delinsTGTA