Canonical Allele Identifier: CA1981486869

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435529_71435531delinsCCG , CM000673.2:g.71435529_71435531delinsCCG	GRCh38
NC_000011.9:g.71146575_71146577delinsCCG , CM000673.1:g.71146575_71146577delinsCCG	GRCh37
NC_000011.8:g.70824223_70824225delinsCCG	NCBI36
NG_012655.2:g.17901_17903delinsCGG , LRG_340:g.17901_17903delinsCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1272_1274delinsCGG	ENSP00000435707.3:p.Gly424=
ENST00000526780.6:c.1272_1274delinsCGG	ENSP00000435668.2:p.Gly424=
ENST00000527316.6:c.1098_1100delinsCGG	ENSP00000435047.2:p.Gly366=
ENST00000682708.1:c.1323_1325delinsCGG	ENSP00000506866.1:p.Gly441=
ENST00000683287.1:c.1308_1310delinsCGG	ENSP00000507607.1:p.Gly436=
ENST00000683714.1:c.*35_*37delinsCGG	ENSP00000508207.1:n.*35_*37delinsCGG
ENST00000684396.1:n.1312_1314delinsCGG
ENST00000685320.1:c.687_689delinsCGG	ENSP00000509319.1:p.Gly229=
ENST00000690257.1:c.1176_1178delinsCGG	ENSP00000510750.1:p.Gly392=
ENST00000355527.8:c.1272_1274delinsCGG MANE Select	ENSP00000347717.4:p.Gly424=
ENST00000355527.7:c.1272_1274delinsCGG	ENSP00000347717.3:p.Gly424=
ENST00000407721.6:c.1272_1274delinsCGG	ENSP00000384739.2:p.Gly424=
ENST00000525137.1:c.773_775delinsCGG	ENSP00000435956.1:n.773_775delinsCGG
ENST00000533800.5:c.522_524delinsCGG	ENSP00000435011.1:p.Gly174=
ENST00000534795.5:c.319+2281_319+2283delinsCGG
NM_001163817.1:c.1272_1274delinsCGG	NP_001157289.1:p.Gly424=
NM_001360.2:c.1272_1274delinsCGG , LRG_340t1:c.1272_1274delinsCGG	NP_001351.2:p.Gly424=
XM_011544777.1:c.*35_*37delinsCGG	XP_011543079.1:n.*35_*37delinsCGG
XM_011544777.2:c.*35_*37delinsCGG	XP_011543079.1:n.*35_*37delinsCGG
NM_001163817.2:c.1272_1274delinsCGG	NP_001157289.1:p.Gly424=
NM_001360.3:c.1272_1274delinsCGG MANE Select	NP_001351.2:p.Gly424=