Canonical Allele Identifier: CA939372416

Gene: DHCR7

Linked Data

• dbSNP Id: rs1380523883
• gnomAD v3: 11-71436057-ATG-A
• gnomAD v4: 11-71436057-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71436067_71436068del , CM000673.2:g.71436067_71436068del	GRCh38
NC_000011.9:g.71147113_71147114del , CM000673.1:g.71147113_71147114del	GRCh37
NC_000011.8:g.70824761_70824762del	NCBI36
NG_012655.2:g.17373_17374del , LRG_340:g.17373_17374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.964-220_964-219del	ENSP00000435707.3:n.964-220_964-219del
ENST00000526780.6:c.964-220_964-219del	ENSP00000435668.2:n.964-220_964-219del
ENST00000527316.6:c.790-220_790-219del	ENSP00000435047.2:n.790-220_790-219del
ENST00000682708.1:c.1015-220_1015-219del	ENSP00000506866.1:n.1015-220_1015-219del
ENST00000683287.1:c.1000-220_1000-219del	ENSP00000507607.1:n.1000-220_1000-219del
ENST00000683714.1:c.972-220_972-219del	ENSP00000508207.1:n.972-220_972-219del
ENST00000684396.1:n.1004-220_1004-219del
ENST00000685320.1:c.379-220_379-219del	ENSP00000509319.1:n.379-220_379-219del
ENST00000690257.1:c.868-220_868-219del	ENSP00000510750.1:n.868-220_868-219del
ENST00000355527.8:c.964-220_964-219del MANE Select	ENSP00000347717.4:n.964-220_964-219del
ENST00000355527.7:c.964-220_964-219del	ENSP00000347717.3:n.964-220_964-219del
ENST00000407721.6:c.964-220_964-219del	ENSP00000384739.2:n.964-220_964-219del
ENST00000525137.1:c.331-86_331-85del	ENSP00000435956.1:n.331-86_331-85del
ENST00000533800.5:c.214-220_214-219del	ENSP00000435011.1:n.214-220_214-219del
ENST00000534795.5:c.319+1753_319+1754del
NM_001163817.1:c.964-220_964-219del	NP_001157289.1:n.964-220_964-219del
NM_001360.2:c.964-220_964-219del , LRG_340t1:c.964-220_964-219del	NP_001351.2:n.964-220_964-219del
XM_011544777.1:c.964-86_964-85del	XP_011543079.1:n.964-86_964-85del
XM_011544777.2:c.964-86_964-85del	XP_011543079.1:n.964-86_964-85del
NM_001163817.2:c.964-220_964-219del	NP_001157289.1:n.964-220_964-219del
NM_001360.3:c.964-220_964-219del MANE Select	NP_001351.2:n.964-220_964-219del