Canonical Allele Identifier: CA1981486826

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435454_71435455delinsCG , CM000673.2:g.71435454_71435455delinsCG	GRCh38
NC_000011.9:g.71146500_71146501delinsCG , CM000673.1:g.71146500_71146501delinsCG	GRCh37
NC_000011.8:g.70824148_70824149delinsCG	NCBI36
NG_012655.2:g.17977_17978delinsCG , LRG_340:g.17977_17978delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1348_1349delinsCG	ENSP00000435707.3:p.Arg450=
ENST00000526780.6:c.1348_1349delinsCG	ENSP00000435668.2:p.Arg450=
ENST00000527316.6:c.1174_1175delinsCG	ENSP00000435047.2:p.Arg392=
ENST00000682708.1:c.1399_1400delinsCG	ENSP00000506866.1:p.Arg467=
ENST00000683287.1:c.1384_1385delinsCG	ENSP00000507607.1:p.Arg462=
ENST00000683714.1:c.*111_*112delinsCG	ENSP00000508207.1:n.*111_*112delinsCG
ENST00000684396.1:n.1388_1389delinsCG
ENST00000685320.1:c.763_764delinsCG	ENSP00000509319.1:p.Arg255=
ENST00000690257.1:c.1252_1253delinsCG	ENSP00000510750.1:p.Arg418=
ENST00000355527.8:c.1348_1349delinsCG MANE Select	ENSP00000347717.4:p.Arg450=
ENST00000355527.7:c.1348_1349delinsCG	ENSP00000347717.3:p.Arg450=
ENST00000407721.6:c.1348_1349delinsCG	ENSP00000384739.2:p.Arg450=
ENST00000525137.1:c.849_850delinsCG	ENSP00000435956.1:n.849_850delinsCG
ENST00000533800.5:c.598_599delinsCG	ENSP00000435011.1:p.Arg200=
ENST00000534795.5:c.319+2357_319+2358delinsCG
NM_001163817.1:c.1348_1349delinsCG	NP_001157289.1:p.Arg450=
NM_001360.2:c.1348_1349delinsCG , LRG_340t1:c.1348_1349delinsCG	NP_001351.2:p.Arg450=
XM_011544777.1:c.*111_*112delinsCG	XP_011543079.1:n.*111_*112delinsCG
XM_011544777.2:c.*111_*112delinsCG	XP_011543079.1:n.*111_*112delinsCG
NM_001163817.2:c.1348_1349delinsCG	NP_001157289.1:p.Arg450=
NM_001360.3:c.1348_1349delinsCG MANE Select	NP_001351.2:p.Arg450=