Canonical Allele Identifier: CA2397980829
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23833962_23833967delinsAGCAGG , CM000684.2:g.23833962_23833967delinsAGCAGG GRCh38
NC_000022.10:g.24176149_24176154delinsAGCAGG , CM000684.1:g.24176149_24176154delinsAGCAGG GRCh37
NC_000022.9:g.22506149_22506154delinsAGCAGG NCBI36
NG_009303.1:g.52000_52005delinsAGCAGG , LRG_520:g.52000_52005delinsAGCAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.981-179_981-174delinsAGCAGG ENSP00000263121.8:n.981-179_981-174delinsAGCAGG
ENST00000344921.11:c.1146-179_1146-174delinsAGCAGG ENSP00000340883.6:n.1146-179_1146-174delinsAGCAGG
ENST00000407422.8:c.1092-179_1092-174delinsAGCAGG ENSP00000383984.3:n.1092-179_1092-174delinsAGCAGG
ENST00000644036.2:c.1119-179_1119-174delinsAGCAGG MANE Select ENSP00000494049.2:n.1119-179_1119-174delinsAGCAGG
ENST00000644462.1:c.1837-179_1837-174delinsAGCAGG ENSP00000494283.1:n.1837-179_1837-174delinsAGCAGG
ENST00000645799.1:n.2441-179_2441-174delinsAGCAGG
ENST00000646723.1:n.3465-179_3465-174delinsAGCAGG
ENST00000647057.1:c.*613-179_*613-174delinsAGCAGG ENSP00000494757.1:n.*613-179_*613-174delinsAGCAGG
ENST00000263121.11:c.1119-179_1119-174delinsAGCAGG ENSP00000263121.7:n.1119-179_1119-174delinsAGCAGG
ENST00000344921.10:c.1146-179_1146-174delinsAGCAGG ENSP00000340883.6:n.1146-179_1146-174delinsAGCAGG
ENST00000407082.3:c.981-179_981-174delinsAGCAGG ENSP00000385226.3:n.981-179_981-174delinsAGCAGG
ENST00000407422.7:c.1092-179_1092-174delinsAGCAGG ENSP00000383984.3:n.1092-179_1092-174delinsAGCAGG
NM_001007468.1:c.1092-179_1092-174delinsAGCAGG NP_001007469.1:n.1092-179_1092-174delinsAGCAGG
NM_003073.3:c.1119-179_1119-174delinsAGCAGG , LRG_520t1:c.1119-179_1119-174delinsAGCAGG NP_003064.2:n.1119-179_1119-174delinsAGCAGG
XM_011530345.1:c.1173-179_1173-174delinsAGCAGG XP_011528647.1:n.1173-179_1173-174delinsAGCAGG
XM_011530346.1:c.1146-179_1146-174delinsAGCAGG XP_011528648.1:n.1146-179_1146-174delinsAGCAGG
NM_001007468.2:c.1092-179_1092-174delinsAGCAGG NP_001007469.1:n.1092-179_1092-174delinsAGCAGG
NM_001317946.1:c.1146-179_1146-174delinsAGCAGG NP_001304875.1:n.1146-179_1146-174delinsAGCAGG
NM_001362877.1:c.1173-179_1173-174delinsAGCAGG NP_001349806.1:n.1173-179_1173-174delinsAGCAGG
NM_003073.4:c.1119-179_1119-174delinsAGCAGG NP_003064.2:n.1119-179_1119-174delinsAGCAGG
NM_001007468.3:c.1092-179_1092-174delinsAGCAGG NP_001007469.1:n.1092-179_1092-174delinsAGCAGG
NM_001317946.2:c.1146-179_1146-174delinsAGCAGG NP_001304875.1:n.1146-179_1146-174delinsAGCAGG
NM_001362877.2:c.1173-179_1173-174delinsAGCAGG NP_001349806.1:n.1173-179_1173-174delinsAGCAGG
NM_003073.5:c.1119-179_1119-174delinsAGCAGG MANE Select NP_003064.2:n.1119-179_1119-174delinsAGCAGG