Canonical Allele Identifier: CA2655715720

Gene: DERL3 SMARCB1

Linked Data

• gnomAD v4: 22-23834540-A-AGGTCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834541_23834542insGTCATG , CM000684.2:g.23834541_23834542insGTCATG	GRCh38
NC_000022.10:g.24176728_24176729insGTCATG , CM000684.1:g.24176728_24176729insGTCATG	GRCh37
NC_000022.9:g.22506728_22506729insGTCATG	NCBI36
NG_009303.1:g.52579_52580insGTCATG , LRG_520:g.52579_52580insGTCATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318109.12:c.*2328_*2329insATGACC (DERL3) MANE Select	ENSP00000315303.8:n.*2328_*2329insATGACC
ENST00000644036.2:c.*361_*362insGTCATG (SMARCB1) MANE Select	ENSP00000494049.2:n.*361_*362insGTCATG
ENST00000290730.11:n.3487_3488insATGACC (DERL3)
ENST00000404056.1:c.*2519_*2520insATGACC (DERL3)	ENSP00000384473.1:n.*2519_*2520insATGACC
ENST00000406855.7:c.*286_*287insATGACC (DERL3)	ENSP00000384744.3:n.*286_*287insATGACC
ENST00000464023.1:n.607_608insATGACC (DERL3)
NM_001002862.2:c.*2328_*2329insATGACC (DERL3)	NP_001002862.1:n.*2328_*2329insATGACC
NM_001135751.1:c.*286_*287insATGACC (DERL3)	NP_001129223.1:n.*286_*287insATGACC
NM_198440.3:c.*2519_*2520insATGACC (DERL3)	NP_940842.2:n.*2519_*2520insATGACC
XM_011530504.1:c.*286_*287insATGACC (DERL3)	XP_011528806.1:n.*286_*287insATGACC
XM_011530506.1:c.*351_*352insATGACC (DERL3)	XP_011528808.1:n.*351_*352insATGACC
XM_011530507.1:c.*286_*287insATGACC (DERL3)	XP_011528809.1:n.*286_*287insATGACC
NM_001363072.1:c.*351_*352insATGACC (DERL3)	NP_001350001.1:n.*351_*352insATGACC
XM_017029082.2:c.*286_*287insATGACC (DERL3)	XP_016884571.1:n.*286_*287insATGACC
NM_001002862.3:c.*2328_*2329insATGACC (DERL3) MANE Select	NP_001002862.1:n.*2328_*2329insATGACC
NM_001007468.3:c.*361_*362insGTCATG (SMARCB1)	NP_001007469.1:n.*361_*362insGTCATG
NM_001135751.2:c.*286_*287insATGACC (DERL3)	NP_001129223.1:n.*286_*287insATGACC
NM_001317946.2:c.*361_*362insGTCATG (SMARCB1)	NP_001304875.1:n.*361_*362insGTCATG
NM_001362877.2:c.*361_*362insGTCATG (SMARCB1)	NP_001349806.1:n.*361_*362insGTCATG
NM_001363072.2:c.*351_*352insATGACC (DERL3)	NP_001350001.1:n.*351_*352insATGACC
NM_003073.5:c.*361_*362insGTCATG (SMARCB1) MANE Select	NP_003064.2:n.*361_*362insGTCATG
NM_198440.4:c.*2519_*2520insATGACC (DERL3)	NP_940842.2:n.*2519_*2520insATGACC