Canonical Allele Identifier: CA1981486483

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71434820_71434821delinsGC , CM000673.2:g.71434820_71434821delinsGC	GRCh38
NC_000011.9:g.71145866_71145867delinsGC , CM000673.1:g.71145866_71145867delinsGC	GRCh37
NC_000011.8:g.70823514_70823515delinsGC	NCBI36
NG_012655.2:g.18611_18612delinsGC , LRG_340:g.18611_18612delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.*554_*555delinsGC	ENSP00000435707.3:n.*554_*555delinsGC
ENST00000526780.6:c.*554_*555delinsGC	ENSP00000435668.2:n.*554_*555delinsGC
ENST00000682708.1:c.*554_*555delinsGC	ENSP00000506866.1:n.*554_*555delinsGC
ENST00000683287.1:c.*554_*555delinsGC	ENSP00000507607.1:n.*554_*555delinsGC
ENST00000683714.1:c.*745_*746delinsGC	ENSP00000508207.1:n.*745_*746delinsGC
ENST00000684396.1:n.2022_2023delinsGC
ENST00000685320.1:c.*554_*555delinsGC	ENSP00000509319.1:n.*554_*555delinsGC
ENST00000690257.1:c.*554_*555delinsGC	ENSP00000510750.1:n.*554_*555delinsGC
ENST00000355527.8:c.*554_*555delinsGC MANE Select	ENSP00000347717.4:n.*554_*555delinsGC
ENST00000355527.7:c.*554_*555delinsGC	ENSP00000347717.3:n.*554_*555delinsGC
ENST00000407721.6:c.*554_*555delinsGC	ENSP00000384739.2:n.*554_*555delinsGC
ENST00000534795.5:c.319+2991_319+2992delinsGC
NM_001163817.1:c.*554_*555delinsGC	NP_001157289.1:n.*554_*555delinsGC
NM_001360.2:c.*554_*555delinsGC , LRG_340t1:c.*554_*555delinsGC	NP_001351.2:n.*554_*555delinsGC
XM_011544777.1:c.*745_*746delinsGC	XP_011543079.1:n.*745_*746delinsGC
XM_011544777.2:c.*745_*746delinsGC	XP_011543079.1:n.*745_*746delinsGC
NM_001163817.2:c.*554_*555delinsGC	NP_001157289.1:n.*554_*555delinsGC
NM_001360.3:c.*554_*555delinsGC MANE Select	NP_001351.2:n.*554_*555delinsGC