Canonical Allele Identifier: CA2655715471
Gene: SMARCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23834456_23834457del , CM000684.2:g.23834456_23834457del GRCh38
NC_000022.10:g.24176643_24176644del , CM000684.1:g.24176643_24176644del GRCh37
NC_000022.9:g.22506643_22506644del NCBI36
NG_009303.1:g.52494_52495del , LRG_520:g.52494_52495del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.*276_*277del ENSP00000263121.8:n.*276_*277del
ENST00000344921.11:c.*276_*277del ENSP00000340883.6:n.*276_*277del
ENST00000407422.8:c.*276_*277del ENSP00000383984.3:n.*276_*277del
ENST00000644036.2:c.*276_*277del MANE Select ENSP00000494049.2:n.*276_*277del
ENST00000647057.1:c.*928_*929del ENSP00000494757.1:n.*928_*929del
ENST00000263121.11:c.*276_*277del ENSP00000263121.7:n.*276_*277del
ENST00000344921.10:c.*276_*277del ENSP00000340883.6:n.*276_*277del
ENST00000407422.7:c.*276_*277del ENSP00000383984.3:n.*276_*277del
NM_001007468.1:c.*276_*277del NP_001007469.1:n.*276_*277del
NM_003073.3:c.*276_*277del , LRG_520t1:c.*276_*277del NP_003064.2:n.*276_*277del
XM_011530345.1:c.*276_*277del XP_011528647.1:n.*276_*277del
XM_011530346.1:c.*276_*277del XP_011528648.1:n.*276_*277del
NM_001007468.2:c.*276_*277del NP_001007469.1:n.*276_*277del
NM_001317946.1:c.*276_*277del NP_001304875.1:n.*276_*277del
NM_001362877.1:c.*276_*277del NP_001349806.1:n.*276_*277del
NM_003073.4:c.*276_*277del NP_003064.2:n.*276_*277del
NM_001007468.3:c.*276_*277del NP_001007469.1:n.*276_*277del
NM_001317946.2:c.*276_*277del NP_001304875.1:n.*276_*277del
NM_001362877.2:c.*276_*277del NP_001349806.1:n.*276_*277del
NM_003073.5:c.*276_*277del MANE Select NP_003064.2:n.*276_*277del