Canonical Allele Identifier: CA2655715761

Gene: DERL3 SMARCB1

Linked Data

• gnomAD v4: 22-23834558-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834558A>C , CM000684.2:g.23834558A>C	GRCh38
NC_000022.10:g.24176745A>C , CM000684.1:g.24176745A>C	GRCh37
NC_000022.9:g.22506745A>C	NCBI36
NG_009303.1:g.52596A>C , LRG_520:g.52596A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318109.12:c.*2311T>G (DERL3) MANE Select	ENSP00000315303.8:n.*2311T>G
ENST00000644036.2:c.*378A>C (SMARCB1) MANE Select	ENSP00000494049.2:n.*378A>C
ENST00000290730.11:n.3470T>G (DERL3)
ENST00000404056.1:c.*2502T>G (DERL3)	ENSP00000384473.1:n.*2502T>G
ENST00000406855.7:c.*269T>G (DERL3)	ENSP00000384744.3:n.*269T>G
ENST00000464023.1:n.590T>G (DERL3)
NM_001002862.2:c.*2311T>G (DERL3)	NP_001002862.1:n.*2311T>G
NM_001135751.1:c.*269T>G (DERL3)	NP_001129223.1:n.*269T>G
NM_198440.3:c.*2502T>G (DERL3)	NP_940842.2:n.*2502T>G
XM_011530504.1:c.*269T>G (DERL3)	XP_011528806.1:n.*269T>G
XM_011530506.1:c.*334T>G (DERL3)	XP_011528808.1:n.*334T>G
XM_011530507.1:c.*269T>G (DERL3)	XP_011528809.1:n.*269T>G
NM_001363072.1:c.*334T>G (DERL3)	NP_001350001.1:n.*334T>G
XM_017029082.2:c.*269T>G (DERL3)	XP_016884571.1:n.*269T>G
NM_001002862.3:c.*2311T>G (DERL3) MANE Select	NP_001002862.1:n.*2311T>G
NM_001007468.3:c.*378A>C (SMARCB1)	NP_001007469.1:n.*378A>C
NM_001135751.2:c.*269T>G (DERL3)	NP_001129223.1:n.*269T>G
NM_001317946.2:c.*378A>C (SMARCB1)	NP_001304875.1:n.*378A>C
NM_001362877.2:c.*378A>C (SMARCB1)	NP_001349806.1:n.*378A>C
NM_001363072.2:c.*334T>G (DERL3)	NP_001350001.1:n.*334T>G
NM_003073.5:c.*378A>C (SMARCB1) MANE Select	NP_003064.2:n.*378A>C
NM_198440.4:c.*2502T>G (DERL3)	NP_940842.2:n.*2502T>G