Canonical Allele Identifier: CA10604128

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 282268
• ClinVar RCV Id: RCV000316051 ; RCV000725059
• dbSNP Id: rs886042362
• gnomAD v4: 11-71435454-CG-C
• MyVariant Identifiers: chr11:g.71146501del (hg19) ; chr11:g.71435455del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435456del , CM000673.2:g.71435456del	GRCh38
NC_000011.9:g.71146502del , CM000673.1:g.71146502del	GRCh37
NC_000011.8:g.70824150del	NCBI36
NG_012655.2:g.17977del , LRG_340:g.17977del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1348del	ENSP00000435707.3:p.Arg450AlafsTer?
ENST00000526780.6:c.1348del	ENSP00000435668.2:p.Arg450AlafsTer?
ENST00000527316.6:c.1174del	ENSP00000435047.2:p.Arg392AlafsTer?
ENST00000682708.1:c.1399del	ENSP00000506866.1:p.Arg467AlafsTer?
ENST00000683287.1:c.1384del	ENSP00000507607.1:p.Arg462AlafsTer?
ENST00000683714.1:c.*111del	ENSP00000508207.1:n.*111del
ENST00000684396.1:n.1388del
ENST00000685320.1:c.763del	ENSP00000509319.1:p.Arg255AlafsTer?
ENST00000690257.1:c.1252del	ENSP00000510750.1:p.Arg418AlafsTer?
ENST00000355527.8:c.1348del MANE Select	ENSP00000347717.4:p.Arg450AlafsTer?
ENST00000355527.7:c.1348del	ENSP00000347717.3:p.Arg450AlafsTer?
ENST00000407721.6:c.1348del	ENSP00000384739.2:p.Arg450AlafsTer?
ENST00000525137.1:c.849del	ENSP00000435956.1:n.849del
ENST00000533800.5:c.598del	ENSP00000435011.1:p.Arg200AlafsTer?
ENST00000534795.5:c.319+2357del
NM_001163817.1:c.1348del	NP_001157289.1:p.Arg450AlafsTer?
NM_001360.2:c.1348del , LRG_340t1:c.1348del	NP_001351.2:p.Arg450AlafsTer?
XM_011544777.1:c.*111del	XP_011543079.1:n.*111del
XM_011544777.2:c.*111del	XP_011543079.1:n.*111del
NM_001163817.2:c.1348del	NP_001157289.1:p.Arg450AlafsTer?
NM_001360.3:c.1348del MANE Select	NP_001351.2:p.Arg450AlafsTer?