Canonical Allele Identifier: CA939372410

Gene: DHCR7

Linked Data

• dbSNP Id: rs1949276806
• gnomAD v3: 11-71436025-ACT-A
• gnomAD v4: 11-71436025-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71436028_71436029del , CM000673.2:g.71436028_71436029del	GRCh38
NC_000011.9:g.71147074_71147075del , CM000673.1:g.71147074_71147075del	GRCh37
NC_000011.8:g.70824722_70824723del	NCBI36
NG_012655.2:g.17405_17406del , LRG_340:g.17405_17406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.964-188_964-187del	ENSP00000435707.3:n.964-188_964-187del
ENST00000526780.6:c.964-188_964-187del	ENSP00000435668.2:n.964-188_964-187del
ENST00000527316.6:c.790-188_790-187del	ENSP00000435047.2:n.790-188_790-187del
ENST00000682708.1:c.1015-188_1015-187del	ENSP00000506866.1:n.1015-188_1015-187del
ENST00000683287.1:c.1000-188_1000-187del	ENSP00000507607.1:n.1000-188_1000-187del
ENST00000683714.1:c.972-188_972-187del	ENSP00000508207.1:n.972-188_972-187del
ENST00000684396.1:n.1004-188_1004-187del
ENST00000685320.1:c.379-188_379-187del	ENSP00000509319.1:n.379-188_379-187del
ENST00000690257.1:c.868-188_868-187del	ENSP00000510750.1:n.868-188_868-187del
ENST00000355527.8:c.964-188_964-187del MANE Select	ENSP00000347717.4:n.964-188_964-187del
ENST00000355527.7:c.964-188_964-187del	ENSP00000347717.3:n.964-188_964-187del
ENST00000407721.6:c.964-188_964-187del	ENSP00000384739.2:n.964-188_964-187del
ENST00000525137.1:c.331-54_331-53del	ENSP00000435956.1:n.331-54_331-53del
ENST00000533800.5:c.214-188_214-187del	ENSP00000435011.1:n.214-188_214-187del
ENST00000534795.5:c.319+1785_319+1786del
NM_001163817.1:c.964-188_964-187del	NP_001157289.1:n.964-188_964-187del
NM_001360.2:c.964-188_964-187del , LRG_340t1:c.964-188_964-187del	NP_001351.2:n.964-188_964-187del
XM_011544777.1:c.964-54_964-53del	XP_011543079.1:n.964-54_964-53del
XM_011544777.2:c.964-54_964-53del	XP_011543079.1:n.964-54_964-53del
NM_001163817.2:c.964-188_964-187del	NP_001157289.1:n.964-188_964-187del
NM_001360.3:c.964-188_964-187del MANE Select	NP_001351.2:n.964-188_964-187del