Canonical Allele Identifier: CA10575547

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 30201
• ClinVar RCV Id: RCV000023121 ; RCV000377856 ; RCV002444438 ; RCV002504820
• dbSNP Id: rs875989800
• gnomAD v4: 22-23833669-GAGA-G
• COSMIC: COSM1180929 ; COSM1180930
• MyVariant Identifiers: chr22:g.24175863_24175865del (hg19) ; chr22:g.23833676_23833678del (hg38)
• PubMed: PMID:22426308 ; PMID:23556151 ; PMID:25168959 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833676_23833678del , CM000684.2:g.23833676_23833678del	GRCh38
NC_000022.10:g.24175863_24175865del , CM000684.1:g.24175863_24175865del	GRCh37
NC_000022.9:g.22505863_22505865del	NCBI36
NG_009303.1:g.51714_51716del , LRG_520:g.51714_51716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.953_955del	ENSP00000263121.8:p.Lys318del
ENST00000344921.11:c.1118_1120del	ENSP00000340883.6:p.Lys373del
ENST00000407422.8:c.1064_1066del	ENSP00000383984.3:p.Lys355del
ENST00000644036.2:c.1091_1093del MANE Select	ENSP00000494049.2:p.Lys364del
ENST00000644462.1:c.1809_1811del	ENSP00000494283.1:n.1809_1811del
ENST00000645799.1:n.2413_2415del
ENST00000646723.1:n.3437_3439del
ENST00000647057.1:c.*585_*587del	ENSP00000494757.1:n.*585_*587del
ENST00000263121.11:c.1091_1093del	ENSP00000263121.7:p.Lys364del
ENST00000344921.10:c.1118_1120del	ENSP00000340883.6:p.Lys373del
ENST00000407082.3:c.953_955del	ENSP00000385226.3:p.Lys318del
ENST00000407422.7:c.1064_1066del	ENSP00000383984.3:p.Lys355del
NM_001007468.1:c.1064_1066del	NP_001007469.1:p.Lys355del
NM_003073.3:c.1091_1093del , LRG_520t1:c.1091_1093del	NP_003064.2:p.Lys364del
XM_011530345.1:c.1145_1147del	XP_011528647.1:p.Lys382del
XM_011530346.1:c.1118_1120del	XP_011528648.1:p.Lys373del
NM_001007468.2:c.1064_1066del	NP_001007469.1:p.Lys355del
NM_001317946.1:c.1118_1120del	NP_001304875.1:p.Lys373del
NM_001362877.1:c.1145_1147del	NP_001349806.1:p.Lys382del
NM_003073.4:c.1091_1093del	NP_003064.2:p.Lys364del
NM_001007468.3:c.1064_1066del	NP_001007469.1:p.Lys355del
NM_001317946.2:c.1118_1120del	NP_001304875.1:p.Lys373del
NM_001362877.2:c.1145_1147del	NP_001349806.1:p.Lys382del
NM_003073.5:c.1091_1093del MANE Select	NP_003064.2:p.Lys364del