Canonical Allele Identifier: CA638690319

Gene: SMARCB1 DERL3

Linked Data

• dbSNP Id: rs1272825068
• gnomAD v2: 22-24176685-TCATGTTCAATTTCTTC-T
• gnomAD v3: 22-23834498-TCATGTTCAATTTCTTC-T
• gnomAD v4: 22-23834498-TCATGTTCAATTTCTTC-T
• MyVariant Identifiers: chr22:g.24176686_24176701del (hg19) ; chr22:g.23834499_23834514del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834499_23834514del , CM000684.2:g.23834499_23834514del	GRCh38
NC_000022.10:g.24176686_24176701del , CM000684.1:g.24176686_24176701del	GRCh37
NC_000022.9:g.22506686_22506701del	NCBI36
NG_009303.1:g.52537_52552del , LRG_520:g.52537_52552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407422.8:c.*319_*334del (SMARCB1)	ENSP00000383984.3:n.*319_*334del
ENST00000644036.2:c.*319_*334del (SMARCB1) MANE Select	ENSP00000494049.2:n.*319_*334del
ENST00000263121.11:c.*319_*334del (SMARCB1)	ENSP00000263121.7:n.*319_*334del
ENST00000344921.10:c.*319_*334del (SMARCB1)	ENSP00000340883.6:n.*319_*334del
ENST00000407422.7:c.*319_*334del (SMARCB1)	ENSP00000383984.3:n.*319_*334del
NM_001007468.1:c.*319_*334del (SMARCB1)	NP_001007469.1:n.*319_*334del
NM_003073.3:c.*319_*334del , LRG_520t1:c.*319_*334del (SMARCB1)	NP_003064.2:n.*319_*334del
XM_011530345.1:c.*319_*334del (SMARCB1)	XP_011528647.1:n.*319_*334del
XM_011530346.1:c.*319_*334del (SMARCB1)	XP_011528648.1:n.*319_*334del
NM_001007468.2:c.*319_*334del (SMARCB1)	NP_001007469.1:n.*319_*334del
NM_001317946.1:c.*319_*334del (SMARCB1)	NP_001304875.1:n.*319_*334del
NM_001362877.1:c.*319_*334del (SMARCB1)	NP_001349806.1:n.*319_*334del
NM_003073.4:c.*319_*334del (SMARCB1)	NP_003064.2:n.*319_*334del
XM_017029082.2:c.*313_*328del (DERL3)	XP_016884571.1:n.*313_*328del
NM_001007468.3:c.*319_*334del (SMARCB1)	NP_001007469.1:n.*319_*334del
NM_001317946.2:c.*319_*334del (SMARCB1)	NP_001304875.1:n.*319_*334del
NM_001362877.2:c.*319_*334del (SMARCB1)	NP_001349806.1:n.*319_*334del
NM_003073.5:c.*319_*334del (SMARCB1) MANE Select	NP_003064.2:n.*319_*334del