Canonical Allele Identifier: CA915948242

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 813422
• ClinVar RCV Id: RCV001004373
• dbSNP Id: rs1591107062

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435459_71435461delinsG , CM000673.2:g.71435459_71435461delinsG	GRCh38
NC_000011.9:g.71146505_71146507delinsG , CM000673.1:g.71146505_71146507delinsG	GRCh37
NC_000011.8:g.70824153_70824155delinsG	NCBI36
NG_012655.2:g.17971_17973delinsC , LRG_340:g.17971_17973delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1342_1344delinsC	ENSP00000435707.3:p.Glu448ProfsTer?
ENST00000526780.6:c.1342_1344delinsC	ENSP00000435668.2:p.Glu448ProfsTer?
ENST00000527316.6:c.1168_1170delinsC	ENSP00000435047.2:p.Glu390ProfsTer?
ENST00000682708.1:c.1393_1395delinsC	ENSP00000506866.1:p.Glu465ProfsTer?
ENST00000683287.1:c.1378_1380delinsC	ENSP00000507607.1:p.Glu460ProfsTer?
ENST00000683714.1:c.*105_*107delinsC	ENSP00000508207.1:n.*105_*107delinsC
ENST00000684396.1:n.1382_1384delinsC
ENST00000685320.1:c.757_759delinsC	ENSP00000509319.1:p.Glu253ProfsTer?
ENST00000690257.1:c.1246_1248delinsC	ENSP00000510750.1:p.Glu416ProfsTer?
ENST00000355527.8:c.1342_1344delinsC MANE Select	ENSP00000347717.4:p.Glu448ProfsTer?
ENST00000355527.7:c.1342_1344delinsC	ENSP00000347717.3:p.Glu448ProfsTer?
ENST00000407721.6:c.1342_1344delinsC	ENSP00000384739.2:p.Glu448ProfsTer?
ENST00000525137.1:c.843_845delinsC	ENSP00000435956.1:n.843_845delinsC
ENST00000533800.5:c.592_594delinsC	ENSP00000435011.1:p.Glu198ProfsTer?
ENST00000534795.5:c.319+2351_319+2353delinsC
NM_001163817.1:c.1342_1344delinsC	NP_001157289.1:p.Glu448ProfsTer?
NM_001360.2:c.1342_1344delinsC , LRG_340t1:c.1342_1344delinsC	NP_001351.2:p.Glu448ProfsTer?
XM_011544777.1:c.*105_*107delinsC	XP_011543079.1:n.*105_*107delinsC
XM_011544777.2:c.*105_*107delinsC	XP_011543079.1:n.*105_*107delinsC
NM_001163817.2:c.1342_1344delinsC	NP_001157289.1:p.Glu448ProfsTer?
NM_001360.3:c.1342_1344delinsC MANE Select	NP_001351.2:p.Glu448ProfsTer?