Canonical Allele Identifier: CA1981486913

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435609_71435610delinsGC , CM000673.2:g.71435609_71435610delinsGC	GRCh38
NC_000011.9:g.71146655_71146656delinsGC , CM000673.1:g.71146655_71146656delinsGC	GRCh37
NC_000011.8:g.70824303_70824304delinsGC	NCBI36
NG_012655.2:g.17822_17823delinsGC , LRG_340:g.17822_17823delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1193_1194delinsGC	ENSP00000435707.3:p.Gly398=
ENST00000526780.6:c.1193_1194delinsGC	ENSP00000435668.2:p.Gly398=
ENST00000527316.6:c.1019_1020delinsGC	ENSP00000435047.2:p.Gly340=
ENST00000682708.1:c.1244_1245delinsGC	ENSP00000506866.1:p.Gly415=
ENST00000683287.1:c.1229_1230delinsGC	ENSP00000507607.1:p.Gly410=
ENST00000683714.1:c.1201_1202delinsGC	ENSP00000508207.1:p.Ala401=
ENST00000684396.1:n.1233_1234delinsGC
ENST00000685320.1:c.608_609delinsGC	ENSP00000509319.1:p.Gly203=
ENST00000690257.1:c.1097_1098delinsGC	ENSP00000510750.1:p.Gly366=
ENST00000355527.8:c.1193_1194delinsGC MANE Select	ENSP00000347717.4:p.Gly398=
ENST00000355527.7:c.1193_1194delinsGC	ENSP00000347717.3:p.Gly398=
ENST00000407721.6:c.1193_1194delinsGC	ENSP00000384739.2:p.Gly398=
ENST00000525137.1:c.694_695delinsGC	ENSP00000435956.1:p.Ala232=
ENST00000533800.5:c.443_444delinsGC	ENSP00000435011.1:p.Gly148=
ENST00000534795.5:c.319+2202_319+2203delinsGC
NM_001163817.1:c.1193_1194delinsGC	NP_001157289.1:p.Gly398=
NM_001360.2:c.1193_1194delinsGC , LRG_340t1:c.1193_1194delinsGC	NP_001351.2:p.Gly398=
XM_011544777.1:c.1327_1328delinsGC	XP_011543079.1:p.Ala443=
XM_011544777.2:c.1327_1328delinsGC	XP_011543079.1:p.Ala443=
NM_001163817.2:c.1193_1194delinsGC	NP_001157289.1:p.Gly398=
NM_001360.3:c.1193_1194delinsGC MANE Select	NP_001351.2:p.Gly398=