Canonical Allele Identifier: CA1981486529

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71434903_71434907delinsAGCAG , CM000673.2:g.71434903_71434907delinsAGCAG	GRCh38
NC_000011.9:g.71145949_71145953delinsAGCAG , CM000673.1:g.71145949_71145953delinsAGCAG	GRCh37
NC_000011.8:g.70823597_70823601delinsAGCAG	NCBI36
NG_012655.2:g.18525_18529delinsCTGCT , LRG_340:g.18525_18529delinsCTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.*468_*472delinsCTGCT	ENSP00000435707.3:n.*468_*472delinsCTGCT
ENST00000526780.6:c.*468_*472delinsCTGCT	ENSP00000435668.2:n.*468_*472delinsCTGCT
ENST00000682708.1:c.*468_*472delinsCTGCT	ENSP00000506866.1:n.*468_*472delinsCTGCT
ENST00000683287.1:c.*468_*472delinsCTGCT	ENSP00000507607.1:n.*468_*472delinsCTGCT
ENST00000683714.1:c.*659_*663delinsCTGCT	ENSP00000508207.1:n.*659_*663delinsCTGCT
ENST00000684396.1:n.1936_1940delinsCTGCT
ENST00000685320.1:c.*468_*472delinsCTGCT	ENSP00000509319.1:n.*468_*472delinsCTGCT
ENST00000690257.1:c.*468_*472delinsCTGCT	ENSP00000510750.1:n.*468_*472delinsCTGCT
ENST00000355527.8:c.*468_*472delinsCTGCT MANE Select	ENSP00000347717.4:n.*468_*472delinsCTGCT
ENST00000355527.7:c.*468_*472delinsCTGCT	ENSP00000347717.3:n.*468_*472delinsCTGCT
ENST00000407721.6:c.*468_*472delinsCTGCT	ENSP00000384739.2:n.*468_*472delinsCTGCT
ENST00000534795.5:c.319+2905_319+2909delinsCTGCT
NM_001163817.1:c.*468_*472delinsCTGCT	NP_001157289.1:n.*468_*472delinsCTGCT
NM_001360.2:c.*468_*472delinsCTGCT , LRG_340t1:c.*468_*472delinsCTGCT	NP_001351.2:n.*468_*472delinsCTGCT
XM_011544777.1:c.*659_*663delinsCTGCT	XP_011543079.1:n.*659_*663delinsCTGCT
XM_011544777.2:c.*659_*663delinsCTGCT	XP_011543079.1:n.*659_*663delinsCTGCT
NM_001163817.2:c.*468_*472delinsCTGCT	NP_001157289.1:n.*468_*472delinsCTGCT
NM_001360.3:c.*468_*472delinsCTGCT MANE Select	NP_001351.2:n.*468_*472delinsCTGCT