Canonical Allele Identifier: CA679810785

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435589del , CM000673.2:g.71435589del	GRCh38
NC_000011.9:g.71146635del , CM000673.1:g.71146635del	GRCh37
NC_000011.8:g.70824283del	NCBI36
NG_012655.2:g.17843del , LRG_340:g.17843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1214del	ENSP00000435707.3:p.His405ProfsTer8
ENST00000526780.6:c.1214del	ENSP00000435668.2:p.His405ProfsTer8
ENST00000527316.6:c.1040del	ENSP00000435047.2:p.His347ProfsTer8
ENST00000682708.1:c.1265del	ENSP00000506866.1:p.His422ProfsTer8
ENST00000683287.1:c.1250del	ENSP00000507607.1:p.His417ProfsTer8
ENST00000683714.1:c.1222del	ENSP00000508207.1:p.Thr408LeufsTer?
ENST00000684396.1:n.1254del
ENST00000685320.1:c.629del	ENSP00000509319.1:p.His210ProfsTer8
ENST00000690257.1:c.1118del	ENSP00000510750.1:p.His373ProfsTer8
ENST00000355527.8:c.1214del MANE Select	ENSP00000347717.4:p.His405ProfsTer8
ENST00000355527.7:c.1214del	ENSP00000347717.3:p.His405ProfsTer8
ENST00000407721.6:c.1214del	ENSP00000384739.2:p.His405ProfsTer8
ENST00000525137.1:c.715del	ENSP00000435956.1:p.Thr239LeufsTer?
ENST00000533800.5:c.464del	ENSP00000435011.1:p.His155ProfsTer8
ENST00000534795.5:c.319+2223del
NM_001163817.1:c.1214del	NP_001157289.1:p.His405ProfsTer8
NM_001360.2:c.1214del , LRG_340t1:c.1214del	NP_001351.2:p.His405ProfsTer8
XM_011544777.1:c.1348del	XP_011543079.1:p.Thr450LeufsTer?
XM_011544777.2:c.1348del	XP_011543079.1:p.Thr450LeufsTer?
NM_001163817.2:c.1214del	NP_001157289.1:p.His405ProfsTer8
NM_001360.3:c.1214del MANE Select	NP_001351.2:p.His405ProfsTer8