Canonical Allele Identifier: CA2577663164
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23793750_23793751del , CM000684.2:g.23793750_23793751del GRCh38
NC_000022.10:g.24135937_24135938del , CM000684.1:g.24135937_24135938del GRCh37
NC_000022.9:g.22465937_22465938del NCBI36
NG_009303.1:g.11788_11789del , LRG_520:g.11788_11789del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.362+62_362+63del ENSP00000263121.8:n.362+62_362+63del
ENST00000344921.11:c.335+62_335+63del ENSP00000340883.6:n.335+62_335+63del
ENST00000407082.4:c.335+62_335+63del ENSP00000385226.4:n.335+62_335+63del
ENST00000407422.8:c.335+62_335+63del ENSP00000383984.3:n.335+62_335+63del
ENST00000417137.6:c.362+62_362+63del ENSP00000388489.2:n.362+62_362+63del
ENST00000491967.2:n.525+62_525+63del
ENST00000643421.1:n.330+62_330+63del
ENST00000644036.2:c.362+62_362+63del MANE Select ENSP00000494049.2:n.362+62_362+63del
ENST00000644462.1:c.197+62_197+63del ENSP00000494283.1:n.197+62_197+63del
ENST00000644619.1:c.362+62_362+63del ENSP00000494695.1:n.362+62_362+63del
ENST00000646421.1:n.2218+62_2218+63del
ENST00000646723.1:n.350+62_350+63del
ENST00000646911.1:n.274+62_274+63del
ENST00000647057.1:c.93+6488_93+6489del ENSP00000494757.1:n.93+6488_93+6489del
ENST00000263121.11:c.362+62_362+63del ENSP00000263121.7:n.362+62_362+63del
ENST00000344921.10:c.335+62_335+63del ENSP00000340883.6:n.335+62_335+63del
ENST00000407082.3:c.362+62_362+63del ENSP00000385226.3:n.362+62_362+63del
ENST00000407422.7:c.335+62_335+63del ENSP00000383984.3:n.335+62_335+63del
ENST00000417137.5:c.362+62_362+63del ENSP00000388489.1:n.362+62_362+63del
ENST00000491967.1:n.88+62_88+63del
ENST00000634926.1:c.214+62_214+63del
ENST00000635578.1:c.187+62_187+63del
NM_001007468.1:c.335+62_335+63del NP_001007469.1:n.335+62_335+63del
NM_003073.3:c.362+62_362+63del , LRG_520t1:c.362+62_362+63del NP_003064.2:n.362+62_362+63del
XM_011530345.1:c.362+62_362+63del XP_011528647.1:n.362+62_362+63del
XM_011530346.1:c.335+62_335+63del XP_011528648.1:n.335+62_335+63del
NM_001007468.2:c.335+62_335+63del NP_001007469.1:n.335+62_335+63del
NM_001317946.1:c.335+62_335+63del NP_001304875.1:n.335+62_335+63del
NM_001362877.1:c.362+62_362+63del NP_001349806.1:n.362+62_362+63del
NM_003073.4:c.362+62_362+63del NP_003064.2:n.362+62_362+63del
NM_001007468.3:c.335+62_335+63del NP_001007469.1:n.335+62_335+63del
NM_001317946.2:c.335+62_335+63del NP_001304875.1:n.335+62_335+63del
NM_001362877.2:c.362+62_362+63del NP_001349806.1:n.362+62_362+63del
NM_003073.5:c.362+62_362+63del MANE Select NP_003064.2:n.362+62_362+63del