Canonical Allele Identifier: CA1981487446

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71436660_71436663delinsCTCA , CM000673.2:g.71436660_71436663delinsCTCA	GRCh38
NC_000011.9:g.71147706_71147709delinsCTCA , CM000673.1:g.71147706_71147709delinsCTCA	GRCh37
NC_000011.8:g.70825354_70825357delinsCTCA	NCBI36
NG_012655.2:g.16769_16772delinsTGAG , LRG_340:g.16769_16772delinsTGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.964-824_964-821delinsTGAG	ENSP00000435707.3:n.964-824_964-821delinsTGAG
ENST00000526780.6:c.964-824_964-821delinsTGAG	ENSP00000435668.2:n.964-824_964-821delinsTGAG
ENST00000527316.6:c.790-824_790-821delinsTGAG	ENSP00000435047.2:n.790-824_790-821delinsTGAG
ENST00000682708.1:c.1015-824_1015-821delinsTGAG	ENSP00000506866.1:n.1015-824_1015-821delinsTGAG
ENST00000682880.1:c.*1011_*1014delinsTGAG	ENSP00000507520.1:n.*1011_*1014delinsTGAG
ENST00000683287.1:c.1000-824_1000-821delinsTGAG	ENSP00000507607.1:n.1000-824_1000-821delinsTGAG
ENST00000683714.1:c.972-824_972-821delinsTGAG	ENSP00000508207.1:n.972-824_972-821delinsTGAG
ENST00000684396.1:n.1004-824_1004-821delinsTGAG
ENST00000685320.1:c.379-824_379-821delinsTGAG	ENSP00000509319.1:n.379-824_379-821delinsTGAG
ENST00000690257.1:c.868-824_868-821delinsTGAG	ENSP00000510750.1:n.868-824_868-821delinsTGAG
ENST00000355527.8:c.964-824_964-821delinsTGAG MANE Select	ENSP00000347717.4:n.964-824_964-821delinsTGAG
ENST00000355527.7:c.964-824_964-821delinsTGAG	ENSP00000347717.3:n.964-824_964-821delinsTGAG
ENST00000407721.6:c.964-824_964-821delinsTGAG	ENSP00000384739.2:n.964-824_964-821delinsTGAG
ENST00000525137.1:c.331-690_331-687delinsTGAG	ENSP00000435956.1:n.331-690_331-687delinsTGAG
ENST00000533800.5:c.214-824_214-821delinsTGAG	ENSP00000435011.1:n.214-824_214-821delinsTGAG
ENST00000534795.5:c.319+1149_319+1152delinsTGAG
NM_001163817.1:c.964-824_964-821delinsTGAG	NP_001157289.1:n.964-824_964-821delinsTGAG
NM_001360.2:c.964-824_964-821delinsTGAG , LRG_340t1:c.964-824_964-821delinsTGAG	NP_001351.2:n.964-824_964-821delinsTGAG
XM_011544777.1:c.964-690_964-687delinsTGAG	XP_011543079.1:n.964-690_964-687delinsTGAG
XM_011544777.2:c.964-690_964-687delinsTGAG	XP_011543079.1:n.964-690_964-687delinsTGAG
NM_001163817.2:c.964-824_964-821delinsTGAG	NP_001157289.1:n.964-824_964-821delinsTGAG
NM_001360.3:c.964-824_964-821delinsTGAG MANE Select	NP_001351.2:n.964-824_964-821delinsTGAG