Canonical Allele Identifier: CA2598895597

Gene: DHCR7

Linked Data

• gnomAD v3: 11-71434893-ACG-A
• gnomAD v4: 11-71434893-ACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71434894_71434895del , CM000673.2:g.71434894_71434895del	GRCh38
NC_000011.9:g.71145940_71145941del , CM000673.1:g.71145940_71145941del	GRCh37
NC_000011.8:g.70823588_70823589del	NCBI36
NG_012655.2:g.18537_18538del , LRG_340:g.18537_18538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.*480_*481del	ENSP00000435707.3:n.*480_*481del
ENST00000526780.6:c.*480_*481del	ENSP00000435668.2:n.*480_*481del
ENST00000682708.1:c.*480_*481del	ENSP00000506866.1:n.*480_*481del
ENST00000683287.1:c.*480_*481del	ENSP00000507607.1:n.*480_*481del
ENST00000683714.1:c.*671_*672del	ENSP00000508207.1:n.*671_*672del
ENST00000684396.1:n.1948_1949del
ENST00000685320.1:c.*480_*481del	ENSP00000509319.1:n.*480_*481del
ENST00000690257.1:c.*480_*481del	ENSP00000510750.1:n.*480_*481del
ENST00000355527.8:c.*480_*481del MANE Select	ENSP00000347717.4:n.*480_*481del
ENST00000355527.7:c.*480_*481del	ENSP00000347717.3:n.*480_*481del
ENST00000407721.6:c.*480_*481del	ENSP00000384739.2:n.*480_*481del
ENST00000534795.5:c.319+2917_319+2918del
NM_001163817.1:c.*480_*481del	NP_001157289.1:n.*480_*481del
NM_001360.2:c.*480_*481del , LRG_340t1:c.*480_*481del	NP_001351.2:n.*480_*481del
XM_011544777.1:c.*671_*672del	XP_011543079.1:n.*671_*672del
XM_011544777.2:c.*671_*672del	XP_011543079.1:n.*671_*672del
NM_001163817.2:c.*480_*481del	NP_001157289.1:n.*480_*481del
NM_001360.3:c.*480_*481del MANE Select	NP_001351.2:n.*480_*481del