Canonical Allele Identifier: CA2655715633

Gene: DERL3 SMARCB1

Linked Data

• gnomAD v4: 22-23834512-TTCAACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834513_23834518del , CM000684.2:g.23834513_23834518del	GRCh38
NC_000022.10:g.24176700_24176705del , CM000684.1:g.24176700_24176705del	GRCh37
NC_000022.9:g.22506700_22506705del	NCBI36
NG_009303.1:g.52551_52556del , LRG_520:g.52551_52556del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318109.12:c.*2351_*2356del (DERL3) MANE Select	ENSP00000315303.8:n.*2351_*2356del
ENST00000407422.8:c.*333_*338del (SMARCB1)	ENSP00000383984.3:n.*333_*338del
ENST00000644036.2:c.*333_*338del (SMARCB1) MANE Select	ENSP00000494049.2:n.*333_*338del
ENST00000290730.11:n.3510_3515del (DERL3)
ENST00000404056.1:c.*2542_*2547del (DERL3)	ENSP00000384473.1:n.*2542_*2547del
ENST00000406855.7:c.*309_*314del (DERL3)	ENSP00000384744.3:n.*309_*314del
ENST00000464023.1:n.630_635del (DERL3)
NM_001002862.2:c.*2351_*2356del (DERL3)	NP_001002862.1:n.*2351_*2356del
NM_001007468.1:c.*333_*338del (SMARCB1)	NP_001007469.1:n.*333_*338del
NM_001135751.1:c.*309_*314del (DERL3)	NP_001129223.1:n.*309_*314del
NM_003073.3:c.*333_*338del , LRG_520t1:c.*333_*338del (SMARCB1)	NP_003064.2:n.*333_*338del
NM_198440.3:c.*2542_*2547del (DERL3)	NP_940842.2:n.*2542_*2547del
XM_011530504.1:c.*309_*314del (DERL3)	XP_011528806.1:n.*309_*314del
XM_011530506.1:c.*374_*379del (DERL3)	XP_011528808.1:n.*374_*379del
XM_011530507.1:c.*309_*314del (DERL3)	XP_011528809.1:n.*309_*314del
NM_001007468.2:c.*333_*338del (SMARCB1)	NP_001007469.1:n.*333_*338del
NM_001317946.1:c.*333_*338del (SMARCB1)	NP_001304875.1:n.*333_*338del
NM_001362877.1:c.*333_*338del (SMARCB1)	NP_001349806.1:n.*333_*338del
NM_001363072.1:c.*374_*379del (DERL3)	NP_001350001.1:n.*374_*379del
NM_003073.4:c.*333_*338del (SMARCB1)	NP_003064.2:n.*333_*338del
XM_017029082.2:c.*309_*314del (DERL3)	XP_016884571.1:n.*309_*314del
NM_001002862.3:c.*2351_*2356del (DERL3) MANE Select	NP_001002862.1:n.*2351_*2356del
NM_001007468.3:c.*333_*338del (SMARCB1)	NP_001007469.1:n.*333_*338del
NM_001135751.2:c.*309_*314del (DERL3)	NP_001129223.1:n.*309_*314del
NM_001317946.2:c.*333_*338del (SMARCB1)	NP_001304875.1:n.*333_*338del
NM_001362877.2:c.*333_*338del (SMARCB1)	NP_001349806.1:n.*333_*338del
NM_001363072.2:c.*374_*379del (DERL3)	NP_001350001.1:n.*374_*379del
NM_003073.5:c.*333_*338del (SMARCB1) MANE Select	NP_003064.2:n.*333_*338del
NM_198440.4:c.*2542_*2547del (DERL3)	NP_940842.2:n.*2542_*2547del