Canonical Allele Identifier: CA2614857308

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435796-TGCGGGGTGGACAGCTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435797_71435813del , CM000673.2:g.71435797_71435813del	GRCh38
NC_000011.9:g.71146843_71146859del , CM000673.1:g.71146843_71146859del	GRCh37
NC_000011.8:g.70824491_70824507del	NCBI36
NG_012655.2:g.17619_17635del , LRG_340:g.17619_17635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.990_1006del	ENSP00000435707.3:p.Gln331ArgfsTer?
ENST00000526780.6:c.990_1006del	ENSP00000435668.2:p.Gln331ArgfsTer?
ENST00000527316.6:c.816_832del	ENSP00000435047.2:p.Gln273ArgfsTer?
ENST00000682708.1:c.1041_1057del	ENSP00000506866.1:p.Gln348ArgfsTer?
ENST00000683287.1:c.1026_1042del	ENSP00000507607.1:p.Gln343ArgfsTer?
ENST00000683714.1:c.998_1014del	ENSP00000508207.1:p.Cys333TyrfsTer?
ENST00000684396.1:n.1030_1046del
ENST00000685320.1:c.405_421del	ENSP00000509319.1:p.Gln136ArgfsTer?
ENST00000690257.1:c.894_910del	ENSP00000510750.1:p.Gln299ArgfsTer?
ENST00000355527.8:c.990_1006del MANE Select	ENSP00000347717.4:p.Gln331ArgfsTer?
ENST00000355527.7:c.990_1006del	ENSP00000347717.3:p.Gln331ArgfsTer?
ENST00000407721.6:c.990_1006del	ENSP00000384739.2:p.Gln331ArgfsTer?
ENST00000525137.1:c.491_507del	ENSP00000435956.1:p.Cys164TyrfsTer?
ENST00000533800.5:c.240_256del	ENSP00000435011.1:p.Gln81ArgfsTer?
ENST00000534795.5:c.319+1999_319+2015del
NM_001163817.1:c.990_1006del	NP_001157289.1:p.Gln331ArgfsTer?
NM_001360.2:c.990_1006del , LRG_340t1:c.990_1006del	NP_001351.2:p.Gln331ArgfsTer?
XM_011544777.1:c.1124_1140del	XP_011543079.1:p.Cys375TyrfsTer?
XM_011544777.2:c.1124_1140del	XP_011543079.1:p.Cys375TyrfsTer?
NM_001163817.2:c.990_1006del	NP_001157289.1:p.Gln331ArgfsTer?
NM_001360.3:c.990_1006del MANE Select	NP_001351.2:p.Gln331ArgfsTer?