Canonical Allele Identifier: CA1981486387

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71434636_71434641delinsAGTCAT , CM000673.2:g.71434636_71434641delinsAGTCAT	GRCh38
NC_000011.9:g.71145682_71145687delinsAGTCAT , CM000673.1:g.71145682_71145687delinsAGTCAT	GRCh37
NC_000011.8:g.70823330_70823335delinsAGTCAT	NCBI36
NG_012655.2:g.18791_18796delinsATGACT , LRG_340:g.18791_18796delinsATGACT

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.*734_*739delinsATGACT	ENSP00000435707.3:n.*734_*739delinsATGACT
ENST00000526780.6:c.*734_*739delinsATGACT	ENSP00000435668.2:n.*734_*739delinsATGACT
ENST00000682708.1:c.*734_*739delinsATGACT	ENSP00000506866.1:n.*734_*739delinsATGACT
ENST00000683287.1:c.*734_*739delinsATGACT	ENSP00000507607.1:n.*734_*739delinsATGACT
ENST00000683714.1:c.*925_*930delinsATGACT	ENSP00000508207.1:n.*925_*930delinsATGACT
ENST00000684396.1:n.2202_2207delinsATGACT
ENST00000685320.1:c.*734_*739delinsATGACT	ENSP00000509319.1:n.*734_*739delinsATGACT
ENST00000690257.1:c.*734_*739delinsATGACT	ENSP00000510750.1:n.*734_*739delinsATGACT
ENST00000355527.8:c.*734_*739delinsATGACT MANE Select	ENSP00000347717.4:n.*734_*739delinsATGACT
ENST00000355527.7:c.*734_*739delinsATGACT	ENSP00000347717.3:n.*734_*739delinsATGACT
ENST00000407721.6:c.*734_*739delinsATGACT	ENSP00000384739.2:n.*734_*739delinsATGACT
ENST00000534795.5:c.319+3171_319+3176delinsATGACT
NM_001163817.1:c.*734_*739delinsATGACT	NP_001157289.1:n.*734_*739delinsATGACT
NM_001360.2:c.*734_*739delinsATGACT , LRG_340t1:c.*734_*739delinsATGACT	NP_001351.2:n.*734_*739delinsATGACT
XM_011544777.1:c.*925_*930delinsATGACT	XP_011543079.1:n.*925_*930delinsATGACT
XM_011544777.2:c.*925_*930delinsATGACT	XP_011543079.1:n.*925_*930delinsATGACT
NM_001163817.2:c.*734_*739delinsATGACT	NP_001157289.1:n.*734_*739delinsATGACT
NM_001360.3:c.*734_*739delinsATGACT MANE Select	NP_001351.2:n.*734_*739delinsATGACT