Canonical Allele Identifier: CA915948241

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 652894
• ClinVar RCV Id: RCV000808556 ; RCV001560504 ; RCV002381791
• dbSNP Id: rs1591107040

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435453_71435454delinsCA , CM000673.2:g.71435453_71435454delinsCA	GRCh38
NC_000011.9:g.71146499_71146500delinsCA , CM000673.1:g.71146499_71146500delinsCA	GRCh37
NC_000011.8:g.70824147_70824148delinsCA	NCBI36
NG_012655.2:g.17978_17979delinsTG , LRG_340:g.17978_17979delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1349_1350delinsTG	ENSP00000435707.3:p.Arg450Leu
ENST00000526780.6:c.1349_1350delinsTG	ENSP00000435668.2:p.Arg450Leu
ENST00000527316.6:c.1175_1176delinsTG	ENSP00000435047.2:p.Arg392Leu
ENST00000682708.1:c.1400_1401delinsTG	ENSP00000506866.1:p.Arg467Leu
ENST00000683287.1:c.1385_1386delinsTG	ENSP00000507607.1:p.Arg462Leu
ENST00000683714.1:c.*112_*113delinsTG	ENSP00000508207.1:n.*112_*113delinsTG
ENST00000684396.1:n.1389_1390delinsTG
ENST00000685320.1:c.764_765delinsTG	ENSP00000509319.1:p.Arg255Leu
ENST00000690257.1:c.1253_1254delinsTG	ENSP00000510750.1:p.Arg418Leu
ENST00000355527.8:c.1349_1350delinsTG MANE Select	ENSP00000347717.4:p.Arg450Leu
ENST00000355527.7:c.1349_1350delinsTG	ENSP00000347717.3:p.Arg450Leu
ENST00000407721.6:c.1349_1350delinsTG	ENSP00000384739.2:p.Arg450Leu
ENST00000525137.1:c.850_851delinsTG	ENSP00000435956.1:n.850_851delinsTG
ENST00000533800.5:c.599_600delinsTG	ENSP00000435011.1:p.Arg200Leu
ENST00000534795.5:c.319+2358_319+2359delinsTG
NM_001163817.1:c.1349_1350delinsTG	NP_001157289.1:p.Arg450Leu
NM_001360.2:c.1349_1350delinsTG , LRG_340t1:c.1349_1350delinsTG	NP_001351.2:p.Arg450Leu
XM_011544777.1:c.*112_*113delinsTG	XP_011543079.1:n.*112_*113delinsTG
XM_011544777.2:c.*112_*113delinsTG	XP_011543079.1:n.*112_*113delinsTG
NM_001163817.2:c.1349_1350delinsTG	NP_001157289.1:p.Arg450Leu
NM_001360.3:c.1349_1350delinsTG MANE Select	NP_001351.2:p.Arg450Leu