Canonical Allele Identifier: CA939372365

Gene: DHCR7

Linked Data

• gnomAD v3: 11-71435924-G-GTA
• gnomAD v4: 11-71435924-G-GTA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435925_71435926insAT , CM000673.2:g.71435925_71435926insAT	GRCh38
NC_000011.9:g.71146971_71146972insAT , CM000673.1:g.71146971_71146972insAT	GRCh37
NC_000011.8:g.70824619_70824620insAT	NCBI36
NG_012655.2:g.17507_17508insTA , LRG_340:g.17507_17508insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.964-86_964-85insTA	ENSP00000435707.3:n.964-86_964-85insTA
ENST00000526780.6:c.964-86_964-85insTA	ENSP00000435668.2:n.964-86_964-85insTA
ENST00000527316.6:c.790-86_790-85insTA	ENSP00000435047.2:n.790-86_790-85insTA
ENST00000682708.1:c.1015-86_1015-85insTA	ENSP00000506866.1:n.1015-86_1015-85insTA
ENST00000683287.1:c.1000-86_1000-85insTA	ENSP00000507607.1:n.1000-86_1000-85insTA
ENST00000683714.1:c.972-86_972-85insTA	ENSP00000508207.1:n.972-86_972-85insTA
ENST00000684396.1:n.1004-86_1004-85insTA
ENST00000685320.1:c.379-86_379-85insTA	ENSP00000509319.1:n.379-86_379-85insTA
ENST00000690257.1:c.868-86_868-85insTA	ENSP00000510750.1:n.868-86_868-85insTA
ENST00000355527.8:c.964-86_964-85insTA MANE Select	ENSP00000347717.4:n.964-86_964-85insTA
ENST00000355527.7:c.964-86_964-85insTA	ENSP00000347717.3:n.964-86_964-85insTA
ENST00000407721.6:c.964-86_964-85insTA	ENSP00000384739.2:n.964-86_964-85insTA
ENST00000525137.1:c.379_380insTA	ENSP00000435956.1:p.Thr127IlefsTer22
ENST00000533800.5:c.214-86_214-85insTA	ENSP00000435011.1:n.214-86_214-85insTA
ENST00000534795.5:c.319+1887_319+1888insTA
NM_001163817.1:c.964-86_964-85insTA	NP_001157289.1:n.964-86_964-85insTA
NM_001360.2:c.964-86_964-85insTA , LRG_340t1:c.964-86_964-85insTA	NP_001351.2:n.964-86_964-85insTA
XM_011544777.1:c.1012_1013insTA	XP_011543079.1:p.Thr338IlefsTer22
XM_011544777.2:c.1012_1013insTA	XP_011543079.1:p.Thr338IlefsTer22
NM_001163817.2:c.964-86_964-85insTA	NP_001157289.1:n.964-86_964-85insTA
NM_001360.3:c.964-86_964-85insTA MANE Select	NP_001351.2:n.964-86_964-85insTA