Canonical Allele Identifier: CA2397981322
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23834496_23834499delinsGGTC , CM000684.2:g.23834496_23834499delinsGGTC GRCh38
NC_000022.10:g.24176683_24176686delinsGGTC , CM000684.1:g.24176683_24176686delinsGGTC GRCh37
NC_000022.9:g.22506683_22506686delinsGGTC NCBI36
NG_009303.1:g.52534_52537delinsGGTC , LRG_520:g.52534_52537delinsGGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.*316_*319delinsGGTC ENSP00000263121.8:n.*316_*319delinsGGTC
ENST00000344921.11:c.*316_*319delinsGGTC ENSP00000340883.6:n.*316_*319delinsGGTC
ENST00000407422.8:c.*316_*319delinsGGTC ENSP00000383984.3:n.*316_*319delinsGGTC
ENST00000644036.2:c.*316_*319delinsGGTC MANE Select ENSP00000494049.2:n.*316_*319delinsGGTC
ENST00000647057.1:c.*968_*971delinsGGTC ENSP00000494757.1:n.*968_*971delinsGGTC
ENST00000263121.11:c.*316_*319delinsGGTC ENSP00000263121.7:n.*316_*319delinsGGTC
ENST00000344921.10:c.*316_*319delinsGGTC ENSP00000340883.6:n.*316_*319delinsGGTC
ENST00000407422.7:c.*316_*319delinsGGTC ENSP00000383984.3:n.*316_*319delinsGGTC
NM_001007468.1:c.*316_*319delinsGGTC NP_001007469.1:n.*316_*319delinsGGTC
NM_003073.3:c.*316_*319delinsGGTC , LRG_520t1:c.*316_*319delinsGGTC NP_003064.2:n.*316_*319delinsGGTC
XM_011530345.1:c.*316_*319delinsGGTC XP_011528647.1:n.*316_*319delinsGGTC
XM_011530346.1:c.*316_*319delinsGGTC XP_011528648.1:n.*316_*319delinsGGTC
NM_001007468.2:c.*316_*319delinsGGTC NP_001007469.1:n.*316_*319delinsGGTC
NM_001317946.1:c.*316_*319delinsGGTC NP_001304875.1:n.*316_*319delinsGGTC
NM_001362877.1:c.*316_*319delinsGGTC NP_001349806.1:n.*316_*319delinsGGTC
NM_003073.4:c.*316_*319delinsGGTC NP_003064.2:n.*316_*319delinsGGTC
NM_001007468.3:c.*316_*319delinsGGTC NP_001007469.1:n.*316_*319delinsGGTC
NM_001317946.2:c.*316_*319delinsGGTC NP_001304875.1:n.*316_*319delinsGGTC
NM_001362877.2:c.*316_*319delinsGGTC NP_001349806.1:n.*316_*319delinsGGTC
NM_003073.5:c.*316_*319delinsGGTC MANE Select NP_003064.2:n.*316_*319delinsGGTC