Canonical Allele Identifier: CA10575498

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 8030
• ClinVar RCV Id: RCV000008495 ; RCV000008494
• PubMed: PMID:19124645

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23816409_23819039dup , CM000684.2:g.23816409_23819039dup	GRCh38
NC_000022.10:g.24158596_24161226dup , CM000684.1:g.24158596_24161226dup	GRCh37
NC_000022.9:g.22488596_22491226dup	NCBI36
NG_009303.1:g.34447_37077dup , LRG_520:g.34447_37077dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.491-361_657+2103dup
ENST00000344921.11:c.656-361_822+2103dup
ENST00000407422.8:c.602-361_768+2103dup
ENST00000477836.2:n.1419_1946+2103dup
ENST00000644036.2:c.629-361_795+2103dup
ENST00000644462.1:c.1347-361_1513+2103dup
ENST00000646723.1:n.2830-216_3141+2103dup
ENST00000646911.1:n.541-361_707+2103dup
ENST00000647057.1:c.*123-361_*289+2103dup
ENST00000263121.11:c.629-361_795+2103dup
ENST00000344921.10:c.656-361_822+2103dup
ENST00000407082.3:c.491-361_657+2103dup
ENST00000407422.7:c.602-361_768+2103dup
ENST00000477836.1:n.41_568+2103dup
NM_001007468.1:c.602-361_768+2103dup
NM_003073.3:c.629-361_795+2103dup , LRG_520t1:c.629-361_795+2103dup
XM_011530345.1:c.683-361_849+2103dup
XM_011530346.1:c.656-361_822+2103dup
NM_001007468.2:c.602-361_768+2103dup
NM_001317946.1:c.656-361_822+2103dup
NM_001362877.1:c.683-361_849+2103dup
NM_003073.4:c.629-361_795+2103dup
NM_001007468.3:c.602-361_768+2103dup
NM_001317946.2:c.656-361_822+2103dup
NM_001362877.2:c.683-361_849+2103dup
NM_003073.5:c.629-361_795+2103dup