Canonical Allele Identifier: CA2580084831

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1735317
• ClinVar RCV Id: RCV002355374

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435645_71435647delinsGTT , CM000673.2:g.71435645_71435647delinsGTT	GRCh38
NC_000011.9:g.71146691_71146693delinsGTT , CM000673.1:g.71146691_71146693delinsGTT	GRCh37
NC_000011.8:g.70824339_70824341delinsGTT	NCBI36
NG_012655.2:g.17785_17787delinsAAC , LRG_340:g.17785_17787delinsAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1156_1158delinsAAC	ENSP00000435707.3:p.Asp386Asn
ENST00000526780.6:c.1156_1158delinsAAC	ENSP00000435668.2:p.Asp386Asn
ENST00000527316.6:c.982_984delinsAAC	ENSP00000435047.2:p.Asp328Asn
ENST00000682708.1:c.1207_1209delinsAAC	ENSP00000506866.1:p.Asp403Asn
ENST00000683287.1:c.1192_1194delinsAAC	ENSP00000507607.1:p.Asp398Asn
ENST00000683714.1:c.1164_1166delinsAAC	ENSP00000508207.1:p.Met389Thr
ENST00000684396.1:n.1196_1198delinsAAC
ENST00000685320.1:c.571_573delinsAAC	ENSP00000509319.1:p.Asp191Asn
ENST00000690257.1:c.1060_1062delinsAAC	ENSP00000510750.1:p.Asp354Asn
ENST00000355527.8:c.1156_1158delinsAAC MANE Select	ENSP00000347717.4:p.Asp386Asn
ENST00000355527.7:c.1156_1158delinsAAC	ENSP00000347717.3:p.Asp386Asn
ENST00000407721.6:c.1156_1158delinsAAC	ENSP00000384739.2:p.Asp386Asn
ENST00000525137.1:c.657_659delinsAAC	ENSP00000435956.1:p.Met220Thr
ENST00000533800.5:c.406_408delinsAAC	ENSP00000435011.1:p.Asp136Asn
ENST00000534795.5:c.319+2165_319+2167delinsAAC
NM_001163817.1:c.1156_1158delinsAAC	NP_001157289.1:p.Asp386Asn
NM_001360.2:c.1156_1158delinsAAC , LRG_340t1:c.1156_1158delinsAAC	NP_001351.2:p.Asp386Asn
XM_011544777.1:c.1290_1292delinsAAC	XP_011543079.1:p.Met431Thr
XM_011544777.2:c.1290_1292delinsAAC	XP_011543079.1:p.Met431Thr
NM_001163817.2:c.1156_1158delinsAAC	NP_001157289.1:p.Asp386Asn
NM_001360.3:c.1156_1158delinsAAC MANE Select	NP_001351.2:p.Asp386Asn