Canonical Allele Identifier: CA119234
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23791865_23791878delinsTACC , CM000684.2:g.23791865_23791878delinsTACC GRCh38
NC_000022.10:g.24134052_24134065delinsTACC , CM000684.1:g.24134052_24134065delinsTACC GRCh37
NC_000022.9:g.22464052_22464065delinsTACC NCBI36
NG_009303.1:g.9903_9916delinsTACC , LRG_520:g.9903_9916delinsTACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.203_216delinsTACC ENSP00000263121.8:p.His68LeufsTer14
ENST00000344921.11:c.203_205+11delinsTACC
ENST00000407082.4:c.203_205+11delinsTACC
ENST00000407422.8:c.203_205+11delinsTACC
ENST00000417137.6:c.203_216delinsTACC ENSP00000388489.2:p.His68LeufsTer14
ENST00000491967.2:n.393_395+11delinsTACC
ENST00000643421.1:n.171_184delinsTACC
ENST00000644036.2:c.203_216delinsTACC MANE Select ENSP00000494049.2:p.His68LeufsTer14
ENST00000644462.1:c.65_67+11delinsTACC
ENST00000644619.1:c.203_216delinsTACC ENSP00000494695.1:p.His68LeufsTer14
ENST00000646421.1:n.395_408delinsTACC
ENST00000646723.1:n.191_204delinsTACC
ENST00000646911.1:n.115_128delinsTACC
ENST00000647057.1:c.93+4603_93+4616delinsTACC ENSP00000494757.1:n.93+4603_93+4616delinsTACC
ENST00000263121.11:c.203_216delinsTACC ENSP00000263121.7:p.His68LeufsTer14
ENST00000344921.10:c.203_205+11delinsTACC
ENST00000407082.3:c.203_216delinsTACC ENSP00000385226.3:p.His68LeufsTer14
ENST00000407422.7:c.203_205+11delinsTACC
ENST00000417137.5:c.203_216delinsTACC ENSP00000388489.1:p.His68LeufsTer14
ENST00000634926.1:c.55_68delinsTACC
ENST00000635578.1:c.55_57+11delinsTACC
NM_001007468.1:c.203_205+11delinsTACC
NM_003073.3:c.203_216delinsTACC , LRG_520t1:c.203_216delinsTACC NP_003064.2:p.His68LeufsTer14
XM_011530345.1:c.203_216delinsTACC XP_011528647.1:p.His68LeufsTer14
XM_011530346.1:c.203_205+11delinsTACC
NM_001007468.2:c.203_205+11delinsTACC
NM_001317946.1:c.203_205+11delinsTACC
NM_001362877.1:c.203_216delinsTACC NP_001349806.1:p.His68LeufsTer14
NM_003073.4:c.203_216delinsTACC NP_003064.2:p.His68LeufsTer14
NM_001007468.3:c.203_205+11delinsTACC
NM_001317946.2:c.203_205+11delinsTACC
NM_001362877.2:c.203_216delinsTACC NP_001349806.1:p.His68LeufsTer14
NM_003073.5:c.203_216delinsTACC MANE Select NP_003064.2:p.His68LeufsTer14