Canonical Allele Identifier: CA2614858016

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71436080-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71436088_71436089del , CM000673.2:g.71436088_71436089del	GRCh38
NC_000011.9:g.71147134_71147135del , CM000673.1:g.71147134_71147135del	GRCh37
NC_000011.8:g.70824782_70824783del	NCBI36
NG_012655.2:g.17350_17351del , LRG_340:g.17350_17351del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.964-243_964-242del	ENSP00000435707.3:n.964-243_964-242del
ENST00000526780.6:c.964-243_964-242del	ENSP00000435668.2:n.964-243_964-242del
ENST00000527316.6:c.790-243_790-242del	ENSP00000435047.2:n.790-243_790-242del
ENST00000682708.1:c.1015-243_1015-242del	ENSP00000506866.1:n.1015-243_1015-242del
ENST00000683287.1:c.1000-243_1000-242del	ENSP00000507607.1:n.1000-243_1000-242del
ENST00000683714.1:c.972-243_972-242del	ENSP00000508207.1:n.972-243_972-242del
ENST00000684396.1:n.1004-243_1004-242del
ENST00000685320.1:c.379-243_379-242del	ENSP00000509319.1:n.379-243_379-242del
ENST00000690257.1:c.868-243_868-242del	ENSP00000510750.1:n.868-243_868-242del
ENST00000355527.8:c.964-243_964-242del MANE Select	ENSP00000347717.4:n.964-243_964-242del
ENST00000355527.7:c.964-243_964-242del	ENSP00000347717.3:n.964-243_964-242del
ENST00000407721.6:c.964-243_964-242del	ENSP00000384739.2:n.964-243_964-242del
ENST00000525137.1:c.331-109_331-108del	ENSP00000435956.1:n.331-109_331-108del
ENST00000533800.5:c.214-243_214-242del	ENSP00000435011.1:n.214-243_214-242del
ENST00000534795.5:c.319+1730_319+1731del
NM_001163817.1:c.964-243_964-242del	NP_001157289.1:n.964-243_964-242del
NM_001360.2:c.964-243_964-242del , LRG_340t1:c.964-243_964-242del	NP_001351.2:n.964-243_964-242del
XM_011544777.1:c.964-109_964-108del	XP_011543079.1:n.964-109_964-108del
XM_011544777.2:c.964-109_964-108del	XP_011543079.1:n.964-109_964-108del
NM_001163817.2:c.964-243_964-242del	NP_001157289.1:n.964-243_964-242del
NM_001360.3:c.964-243_964-242del MANE Select	NP_001351.2:n.964-243_964-242del