Canonical Allele Identifier: CA2397981242
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23834386_23834387delinsAC , CM000684.2:g.23834386_23834387delinsAC GRCh38
NC_000022.10:g.24176573_24176574delinsAC , CM000684.1:g.24176573_24176574delinsAC GRCh37
NC_000022.9:g.22506573_22506574delinsAC NCBI36
NG_009303.1:g.52424_52425delinsAC , LRG_520:g.52424_52425delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.*206_*207delinsAC ENSP00000263121.8:n.*206_*207delinsAC
ENST00000344921.11:c.*206_*207delinsAC ENSP00000340883.6:n.*206_*207delinsAC
ENST00000407422.8:c.*206_*207delinsAC ENSP00000383984.3:n.*206_*207delinsAC
ENST00000644036.2:c.*206_*207delinsAC MANE Select ENSP00000494049.2:n.*206_*207delinsAC
ENST00000647057.1:c.*858_*859delinsAC ENSP00000494757.1:n.*858_*859delinsAC
ENST00000263121.11:c.*206_*207delinsAC ENSP00000263121.7:n.*206_*207delinsAC
ENST00000344921.10:c.*206_*207delinsAC ENSP00000340883.6:n.*206_*207delinsAC
ENST00000407422.7:c.*206_*207delinsAC ENSP00000383984.3:n.*206_*207delinsAC
NM_001007468.1:c.*206_*207delinsAC NP_001007469.1:n.*206_*207delinsAC
NM_003073.3:c.*206_*207delinsAC , LRG_520t1:c.*206_*207delinsAC NP_003064.2:n.*206_*207delinsAC
XM_011530345.1:c.*206_*207delinsAC XP_011528647.1:n.*206_*207delinsAC
XM_011530346.1:c.*206_*207delinsAC XP_011528648.1:n.*206_*207delinsAC
NM_001007468.2:c.*206_*207delinsAC NP_001007469.1:n.*206_*207delinsAC
NM_001317946.1:c.*206_*207delinsAC NP_001304875.1:n.*206_*207delinsAC
NM_001362877.1:c.*206_*207delinsAC NP_001349806.1:n.*206_*207delinsAC
NM_003073.4:c.*206_*207delinsAC NP_003064.2:n.*206_*207delinsAC
NM_001007468.3:c.*206_*207delinsAC NP_001007469.1:n.*206_*207delinsAC
NM_001317946.2:c.*206_*207delinsAC NP_001304875.1:n.*206_*207delinsAC
NM_001362877.2:c.*206_*207delinsAC NP_001349806.1:n.*206_*207delinsAC
NM_003073.5:c.*206_*207delinsAC MANE Select NP_003064.2:n.*206_*207delinsAC