Canonical Allele Identifier: CA1981486830

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435458_71435461delinsGCTC , CM000673.2:g.71435458_71435461delinsGCTC	GRCh38
NC_000011.9:g.71146504_71146507delinsGCTC , CM000673.1:g.71146504_71146507delinsGCTC	GRCh37
NC_000011.8:g.70824152_70824155delinsGCTC	NCBI36
NG_012655.2:g.17971_17974delinsGAGC , LRG_340:g.17971_17974delinsGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1342_1345delinsGAGC	ENSP00000435707.3:p.Glu448=
ENST00000526780.6:c.1342_1345delinsGAGC	ENSP00000435668.2:p.Glu448=
ENST00000527316.6:c.1168_1171delinsGAGC	ENSP00000435047.2:p.Glu390=
ENST00000682708.1:c.1393_1396delinsGAGC	ENSP00000506866.1:p.Glu465=
ENST00000683287.1:c.1378_1381delinsGAGC	ENSP00000507607.1:p.Glu460=
ENST00000683714.1:c.*105_*108delinsGAGC	ENSP00000508207.1:n.*105_*108delinsGAGC
ENST00000684396.1:n.1382_1385delinsGAGC
ENST00000685320.1:c.757_760delinsGAGC	ENSP00000509319.1:p.Glu253=
ENST00000690257.1:c.1246_1249delinsGAGC	ENSP00000510750.1:p.Glu416=
ENST00000355527.8:c.1342_1345delinsGAGC MANE Select	ENSP00000347717.4:p.Glu448=
ENST00000355527.7:c.1342_1345delinsGAGC	ENSP00000347717.3:p.Glu448=
ENST00000407721.6:c.1342_1345delinsGAGC	ENSP00000384739.2:p.Glu448=
ENST00000525137.1:c.843_846delinsGAGC	ENSP00000435956.1:n.843_846delinsGAGC
ENST00000533800.5:c.592_595delinsGAGC	ENSP00000435011.1:p.Glu198=
ENST00000534795.5:c.319+2351_319+2354delinsGAGC
NM_001163817.1:c.1342_1345delinsGAGC	NP_001157289.1:p.Glu448=
NM_001360.2:c.1342_1345delinsGAGC , LRG_340t1:c.1342_1345delinsGAGC	NP_001351.2:p.Glu448=
XM_011544777.1:c.*105_*108delinsGAGC	XP_011543079.1:n.*105_*108delinsGAGC
XM_011544777.2:c.*105_*108delinsGAGC	XP_011543079.1:n.*105_*108delinsGAGC
NM_001163817.2:c.1342_1345delinsGAGC	NP_001157289.1:p.Glu448=
NM_001360.3:c.1342_1345delinsGAGC MANE Select	NP_001351.2:p.Glu448=