Canonical Allele Identifier: CA2397981299
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23834462_23834463delinsAG , CM000684.2:g.23834462_23834463delinsAG GRCh38
NC_000022.10:g.24176649_24176650delinsAG , CM000684.1:g.24176649_24176650delinsAG GRCh37
NC_000022.9:g.22506649_22506650delinsAG NCBI36
NG_009303.1:g.52500_52501delinsAG , LRG_520:g.52500_52501delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.*282_*283delinsAG ENSP00000263121.8:n.*282_*283delinsAG
ENST00000344921.11:c.*282_*283delinsAG ENSP00000340883.6:n.*282_*283delinsAG
ENST00000407422.8:c.*282_*283delinsAG ENSP00000383984.3:n.*282_*283delinsAG
ENST00000644036.2:c.*282_*283delinsAG MANE Select ENSP00000494049.2:n.*282_*283delinsAG
ENST00000647057.1:c.*934_*935delinsAG ENSP00000494757.1:n.*934_*935delinsAG
ENST00000263121.11:c.*282_*283delinsAG ENSP00000263121.7:n.*282_*283delinsAG
ENST00000344921.10:c.*282_*283delinsAG ENSP00000340883.6:n.*282_*283delinsAG
ENST00000407422.7:c.*282_*283delinsAG ENSP00000383984.3:n.*282_*283delinsAG
NM_001007468.1:c.*282_*283delinsAG NP_001007469.1:n.*282_*283delinsAG
NM_003073.3:c.*282_*283delinsAG , LRG_520t1:c.*282_*283delinsAG NP_003064.2:n.*282_*283delinsAG
XM_011530345.1:c.*282_*283delinsAG XP_011528647.1:n.*282_*283delinsAG
XM_011530346.1:c.*282_*283delinsAG XP_011528648.1:n.*282_*283delinsAG
NM_001007468.2:c.*282_*283delinsAG NP_001007469.1:n.*282_*283delinsAG
NM_001317946.1:c.*282_*283delinsAG NP_001304875.1:n.*282_*283delinsAG
NM_001362877.1:c.*282_*283delinsAG NP_001349806.1:n.*282_*283delinsAG
NM_003073.4:c.*282_*283delinsAG NP_003064.2:n.*282_*283delinsAG
NM_001007468.3:c.*282_*283delinsAG NP_001007469.1:n.*282_*283delinsAG
NM_001317946.2:c.*282_*283delinsAG NP_001304875.1:n.*282_*283delinsAG
NM_001362877.2:c.*282_*283delinsAG NP_001349806.1:n.*282_*283delinsAG
NM_003073.5:c.*282_*283delinsAG MANE Select NP_003064.2:n.*282_*283delinsAG