Canonical Allele Identifier: CA2697548787

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2752700
• ClinVar RCV Id: RCV003507038

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435595del , CM000673.2:g.71435595del	GRCh38
NC_000011.9:g.71146641del , CM000673.1:g.71146641del	GRCh37
NC_000011.8:g.70824289del	NCBI36
NG_012655.2:g.17839del , LRG_340:g.17839del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1210del	ENSP00000435707.3:p.Arg404AlafsTer9
ENST00000526780.6:c.1210del	ENSP00000435668.2:p.Arg404AlafsTer9
ENST00000527316.6:c.1036del	ENSP00000435047.2:p.Arg346AlafsTer9
ENST00000682708.1:c.1261del	ENSP00000506866.1:p.Arg421AlafsTer9
ENST00000683287.1:c.1246del	ENSP00000507607.1:p.Arg416AlafsTer9
ENST00000683714.1:c.1218del	ENSP00000508207.1:p.Ala407ProfsTer?
ENST00000684396.1:n.1250del
ENST00000685320.1:c.625del	ENSP00000509319.1:p.Arg209AlafsTer9
ENST00000690257.1:c.1114del	ENSP00000510750.1:p.Arg372AlafsTer9
ENST00000355527.8:c.1210del MANE Select	ENSP00000347717.4:p.Arg404AlafsTer9
ENST00000355527.7:c.1210del	ENSP00000347717.3:p.Arg404AlafsTer9
ENST00000407721.6:c.1210del	ENSP00000384739.2:p.Arg404AlafsTer9
ENST00000525137.1:c.711del	ENSP00000435956.1:p.Ala238ProfsTer?
ENST00000533800.5:c.460del	ENSP00000435011.1:p.Arg154AlafsTer9
ENST00000534795.5:c.319+2219del
NM_001163817.1:c.1210del	NP_001157289.1:p.Arg404AlafsTer9
NM_001360.2:c.1210del , LRG_340t1:c.1210del	NP_001351.2:p.Arg404AlafsTer9
XM_011544777.1:c.1344del	XP_011543079.1:p.Ala449ProfsTer?
XM_011544777.2:c.1344del	XP_011543079.1:p.Ala449ProfsTer?
NM_001163817.2:c.1210del	NP_001157289.1:p.Arg404AlafsTer9
NM_001360.3:c.1210del MANE Select	NP_001351.2:p.Arg404AlafsTer9