Canonical Allele Identifier: CA2577663363
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23834093_23834094del , CM000684.2:g.23834093_23834094del GRCh38
NC_000022.10:g.24176280_24176281del , CM000684.1:g.24176280_24176281del GRCh37
NC_000022.9:g.22506280_22506281del NCBI36
NG_009303.1:g.52131_52132del , LRG_520:g.52131_52132del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.981-48_981-47del ENSP00000263121.8:n.981-48_981-47del
ENST00000344921.11:c.1146-48_1146-47del ENSP00000340883.6:n.1146-48_1146-47del
ENST00000407422.8:c.1092-48_1092-47del ENSP00000383984.3:n.1092-48_1092-47del
ENST00000644036.2:c.1119-48_1119-47del MANE Select ENSP00000494049.2:n.1119-48_1119-47del
ENST00000644462.1:c.1837-48_1837-47del ENSP00000494283.1:n.1837-48_1837-47del
ENST00000645799.1:n.2441-48_2441-47del
ENST00000646723.1:n.3465-48_3465-47del
ENST00000647057.1:c.*613-48_*613-47del ENSP00000494757.1:n.*613-48_*613-47del
ENST00000263121.11:c.1119-48_1119-47del ENSP00000263121.7:n.1119-48_1119-47del
ENST00000344921.10:c.1146-48_1146-47del ENSP00000340883.6:n.1146-48_1146-47del
ENST00000407082.3:c.981-48_981-47del ENSP00000385226.3:n.981-48_981-47del
ENST00000407422.7:c.1092-48_1092-47del ENSP00000383984.3:n.1092-48_1092-47del
NM_001007468.1:c.1092-48_1092-47del NP_001007469.1:n.1092-48_1092-47del
NM_003073.3:c.1119-48_1119-47del , LRG_520t1:c.1119-48_1119-47del NP_003064.2:n.1119-48_1119-47del
XM_011530345.1:c.1173-48_1173-47del XP_011528647.1:n.1173-48_1173-47del
XM_011530346.1:c.1146-48_1146-47del XP_011528648.1:n.1146-48_1146-47del
NM_001007468.2:c.1092-48_1092-47del NP_001007469.1:n.1092-48_1092-47del
NM_001317946.1:c.1146-48_1146-47del NP_001304875.1:n.1146-48_1146-47del
NM_001362877.1:c.1173-48_1173-47del NP_001349806.1:n.1173-48_1173-47del
NM_003073.4:c.1119-48_1119-47del NP_003064.2:n.1119-48_1119-47del
NM_001007468.3:c.1092-48_1092-47del NP_001007469.1:n.1092-48_1092-47del
NM_001317946.2:c.1146-48_1146-47del NP_001304875.1:n.1146-48_1146-47del
NM_001362877.2:c.1173-48_1173-47del NP_001349806.1:n.1173-48_1173-47del
NM_003073.5:c.1119-48_1119-47del MANE Select NP_003064.2:n.1119-48_1119-47del