Canonical Allele Identifier: CA2525741781
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23828833_23828834insG , CM000684.2:g.23828833_23828834insG GRCh38
NC_000022.10:g.24171020_24171021insG , CM000684.1:g.24171020_24171021insG GRCh37
NC_000022.9:g.22501020_22501021insG NCBI36
NG_009303.1:g.46871_46872insG , LRG_520:g.46871_46872insG

Transcript Alleles

HGVS Amino-acid change
ENST00000263121.12:c.848+3418_848+3419insG ENSP00000263121.8:n.848+3418_848+3419insG
ENST00000344921.11:c.1013+3418_1013+3419insG ENSP00000340883.6:n.1013+3418_1013+3419insG
ENST00000407422.8:c.959+3418_959+3419insG ENSP00000383984.3:n.959+3418_959+3419insG
ENST00000477836.2:n.2137+3418_2137+3419insG
ENST00000644036.2:c.986+3418_986+3419insG MANE Select ENSP00000494049.2:n.986+3418_986+3419insG
ENST00000644462.1:c.1704+3418_1704+3419insG ENSP00000494283.1:n.1704+3418_1704+3419insG
ENST00000645799.1:n.2308+3418_2308+3419insG
ENST00000646723.1:n.3332+3418_3332+3419insG
ENST00000647057.1:c.*480+3418_*480+3419insG ENSP00000494757.1:n.*480+3418_*480+3419insG
ENST00000263121.11:c.986+3418_986+3419insG ENSP00000263121.7:n.986+3418_986+3419insG
ENST00000344921.10:c.1013+3418_1013+3419insG ENSP00000340883.6:n.1013+3418_1013+3419insG
ENST00000407082.3:c.848+3418_848+3419insG ENSP00000385226.3:n.848+3418_848+3419insG
ENST00000407422.7:c.959+3418_959+3419insG ENSP00000383984.3:n.959+3418_959+3419insG
NM_001007468.1:c.959+3418_959+3419insG NP_001007469.1:n.959+3418_959+3419insG
NM_003073.3:c.986+3418_986+3419insG , LRG_520t1:c.986+3418_986+3419insG NP_003064.2:n.986+3418_986+3419insG
XM_011530345.1:c.1040+3418_1040+3419insG XP_011528647.1:n.1040+3418_1040+3419insG
XM_011530346.1:c.1013+3418_1013+3419insG XP_011528648.1:n.1013+3418_1013+3419insG
NM_001007468.2:c.959+3418_959+3419insG NP_001007469.1:n.959+3418_959+3419insG
NM_001317946.1:c.1013+3418_1013+3419insG NP_001304875.1:n.1013+3418_1013+3419insG
NM_001362877.1:c.1040+3418_1040+3419insG NP_001349806.1:n.1040+3418_1040+3419insG
NM_003073.4:c.986+3418_986+3419insG NP_003064.2:n.986+3418_986+3419insG
NM_001007468.3:c.959+3418_959+3419insG NP_001007469.1:n.959+3418_959+3419insG
NM_001317946.2:c.1013+3418_1013+3419insG NP_001304875.1:n.1013+3418_1013+3419insG
NM_001362877.2:c.1040+3418_1040+3419insG NP_001349806.1:n.1040+3418_1040+3419insG
NM_003073.5:c.986+3418_986+3419insG MANE Select NP_003064.2:n.986+3418_986+3419insG