Canonical Allele Identifier: CA2655715631

Gene: DERL3 SMARCB1

Linked Data

• gnomAD v4: 22-23834509-TTCTTCAACAGGTCATGTTCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834510_23834529del , CM000684.2:g.23834510_23834529del	GRCh38
NC_000022.10:g.24176697_24176716del , CM000684.1:g.24176697_24176716del	GRCh37
NC_000022.9:g.22506697_22506716del	NCBI36
NG_009303.1:g.52548_52567del , LRG_520:g.52548_52567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318109.12:c.*2340_*2359del (DERL3) MANE Select	ENSP00000315303.8:n.*2340_*2359del
ENST00000407422.8:c.*330_*349del (SMARCB1)	ENSP00000383984.3:n.*330_*349del
ENST00000644036.2:c.*330_*349del (SMARCB1) MANE Select	ENSP00000494049.2:n.*330_*349del
ENST00000290730.11:n.3499_3518del (DERL3)
ENST00000404056.1:c.*2531_*2550del (DERL3)	ENSP00000384473.1:n.*2531_*2550del
ENST00000406855.7:c.*298_*317del (DERL3)	ENSP00000384744.3:n.*298_*317del
ENST00000464023.1:n.619_638del (DERL3)
NM_001002862.2:c.*2340_*2359del (DERL3)	NP_001002862.1:n.*2340_*2359del
NM_001135751.1:c.*298_*317del (DERL3)	NP_001129223.1:n.*298_*317del
NM_198440.3:c.*2531_*2550del (DERL3)	NP_940842.2:n.*2531_*2550del
XM_011530504.1:c.*298_*317del (DERL3)	XP_011528806.1:n.*298_*317del
XM_011530506.1:c.*363_*382del (DERL3)	XP_011528808.1:n.*363_*382del
XM_011530507.1:c.*298_*317del (DERL3)	XP_011528809.1:n.*298_*317del
NM_001363072.1:c.*363_*382del (DERL3)	NP_001350001.1:n.*363_*382del
XM_017029082.2:c.*298_*317del (DERL3)	XP_016884571.1:n.*298_*317del
NM_001002862.3:c.*2340_*2359del (DERL3) MANE Select	NP_001002862.1:n.*2340_*2359del
NM_001007468.3:c.*330_*349del (SMARCB1)	NP_001007469.1:n.*330_*349del
NM_001135751.2:c.*298_*317del (DERL3)	NP_001129223.1:n.*298_*317del
NM_001317946.2:c.*330_*349del (SMARCB1)	NP_001304875.1:n.*330_*349del
NM_001362877.2:c.*330_*349del (SMARCB1)	NP_001349806.1:n.*330_*349del
NM_001363072.2:c.*363_*382del (DERL3)	NP_001350001.1:n.*363_*382del
NM_003073.5:c.*330_*349del (SMARCB1) MANE Select	NP_003064.2:n.*330_*349del
NM_198440.4:c.*2531_*2550del (DERL3)	NP_940842.2:n.*2531_*2550del