Canonical Allele Identifier: CA2397982492

Gene: DERL3 SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23836945G= , CM000684.2:g.23836945G=	GRCh38
NC_000022.10:g.24179132G= , CM000684.1:g.24179132G=	GRCh37
NC_000022.9:g.22509132G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001002862.3:c.632C= (DERL3) MANE Select	NP_001002862.1:p.Ala211=
NM_003073.5:c.*2765G= (SMARCB1) MANE Select	NP_003064.2:n.*2765G=
ENST00000318109.12:c.632C= (DERL3) MANE Select	ENSP00000315303.8:p.Ala211=
ENST00000644036.2:c.*2765G= (SMARCB1) MANE Select	ENSP00000494049.2:n.*2765G=
NM_001002862.2:c.632C= (DERL3)	NP_001002862.1:p.Ala211=
NM_001007468.3:c.*2765G= (SMARCB1)	NP_001007469.1:n.*2765G=
NM_001135751.1:c.614+119C= (DERL3)	NP_001129223.1:n.614+119C=
NM_001135751.2:c.614+119C= (DERL3)	NP_001129223.1:n.614+119C=
NM_001317946.2:c.*2765G= (SMARCB1)	NP_001304875.1:n.*2765G=
NM_001362877.2:c.*2765G= (SMARCB1)	NP_001349806.1:n.*2765G=
NM_001363072.1:c.614+119C= (DERL3)	NP_001350001.1:n.614+119C=
NM_001363072.2:c.614+119C= (DERL3)	NP_001350001.1:n.614+119C=
NM_198440.3:c.*115C= (DERL3)	NP_940842.2:n.*115C=
NM_198440.4:c.*115C= (DERL3)	NP_940842.2:n.*115C=
ENST00000290730.11:n.1083C= (DERL3)
ENST00000318109.11:c.632C= (DERL3)	ENSP00000315303.7:p.Ala211=
ENST00000404056.1:c.*115C= (DERL3)	ENSP00000384473.1:n.*115C=
ENST00000406855.7:c.614+119C= (DERL3)	ENSP00000384744.3:n.614+119C=
ENST00000464034.5:n.161C= (DERL3)
ENST00000464110.1:n.577C= (DERL3)
ENST00000476077.1:c.*115C= (DERL3)	ENSP00000419399.1:n.*115C=
ENST00000488272.5:n.248C= (DERL3)
ENST00000493596.5:n.117+119C= (DERL3)
XM_011530503.1:c.746C= (DERL3)	XP_011528805.1:p.Ala249=
XM_011530504.1:c.611+119C= (DERL3)	XP_011528806.1:n.611+119C=
XM_011530505.1:c.629C= (DERL3)	XP_011528807.1:p.Ala210=
XM_011530505.3:c.629C= (DERL3)	XP_011528807.1:p.Ala210=
XM_011530506.1:c.614+119C= (DERL3)	XP_011528808.1:n.614+119C=
XM_011530507.1:c.554+119C= (DERL3)	XP_011528809.1:n.554+119C=
XM_017029078.2:c.824C= (DERL3)	XP_016884567.1:p.Ala275=
XM_017029079.2:c.821C= (DERL3)	XP_016884568.1:p.Ala274=
XM_017029080.2:c.764C= (DERL3)	XP_016884569.1:p.Ala255=
XM_017029082.2:c.392+119C= (DERL3)	XP_016884571.1:n.392+119C=