Canonical Allele Identifier: CA2529678237
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23793793_23793794insCTT , CM000684.2:g.23793793_23793794insCTT GRCh38
NC_000022.10:g.24135980_24135981insCTT , CM000684.1:g.24135980_24135981insCTT GRCh37
NC_000022.9:g.22465980_22465981insCTT NCBI36
NG_009303.1:g.11831_11832insCTT , LRG_520:g.11831_11832insCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.362+105_362+106insCTT ENSP00000263121.8:n.362+105_362+106insCTT
ENST00000344921.11:c.335+105_335+106insCTT ENSP00000340883.6:n.335+105_335+106insCTT
ENST00000407082.4:c.335+105_335+106insCTT ENSP00000385226.4:n.335+105_335+106insCTT
ENST00000407422.8:c.335+105_335+106insCTT ENSP00000383984.3:n.335+105_335+106insCTT
ENST00000417137.6:c.362+105_362+106insCTT ENSP00000388489.2:n.362+105_362+106insCTT
ENST00000491967.2:n.525+105_525+106insCTT
ENST00000643421.1:n.330+105_330+106insCTT
ENST00000644036.2:c.362+105_362+106insCTT MANE Select ENSP00000494049.2:n.362+105_362+106insCTT
ENST00000644462.1:c.197+105_197+106insCTT ENSP00000494283.1:n.197+105_197+106insCTT
ENST00000644619.1:c.362+105_362+106insCTT ENSP00000494695.1:n.362+105_362+106insCTT
ENST00000646421.1:n.2218+105_2218+106insCTT
ENST00000646723.1:n.350+105_350+106insCTT
ENST00000646911.1:n.274+105_274+106insCTT
ENST00000647057.1:c.93+6531_93+6532insCTT ENSP00000494757.1:n.93+6531_93+6532insCTT
ENST00000263121.11:c.362+105_362+106insCTT ENSP00000263121.7:n.362+105_362+106insCTT
ENST00000344921.10:c.335+105_335+106insCTT ENSP00000340883.6:n.335+105_335+106insCTT
ENST00000407082.3:c.362+105_362+106insCTT ENSP00000385226.3:n.362+105_362+106insCTT
ENST00000407422.7:c.335+105_335+106insCTT ENSP00000383984.3:n.335+105_335+106insCTT
ENST00000417137.5:c.362+105_362+106insCTT ENSP00000388489.1:n.362+105_362+106insCTT
ENST00000491967.1:n.88+105_88+106insCTT
ENST00000634926.1:c.214+105_214+106insCTT
ENST00000635578.1:c.187+105_187+106insCTT
NM_001007468.1:c.335+105_335+106insCTT NP_001007469.1:n.335+105_335+106insCTT
NM_003073.3:c.362+105_362+106insCTT , LRG_520t1:c.362+105_362+106insCTT NP_003064.2:n.362+105_362+106insCTT
XM_011530345.1:c.362+105_362+106insCTT XP_011528647.1:n.362+105_362+106insCTT
XM_011530346.1:c.335+105_335+106insCTT XP_011528648.1:n.335+105_335+106insCTT
NM_001007468.2:c.335+105_335+106insCTT NP_001007469.1:n.335+105_335+106insCTT
NM_001317946.1:c.335+105_335+106insCTT NP_001304875.1:n.335+105_335+106insCTT
NM_001362877.1:c.362+105_362+106insCTT NP_001349806.1:n.362+105_362+106insCTT
NM_003073.4:c.362+105_362+106insCTT NP_003064.2:n.362+105_362+106insCTT
NM_001007468.3:c.335+105_335+106insCTT NP_001007469.1:n.335+105_335+106insCTT
NM_001317946.2:c.335+105_335+106insCTT NP_001304875.1:n.335+105_335+106insCTT
NM_001362877.2:c.362+105_362+106insCTT NP_001349806.1:n.362+105_362+106insCTT
NM_003073.5:c.362+105_362+106insCTT MANE Select NP_003064.2:n.362+105_362+106insCTT