Canonical Allele Identifier: CA1981486900

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435588_71435589delinsGT , CM000673.2:g.71435588_71435589delinsGT	GRCh38
NC_000011.9:g.71146634_71146635delinsGT , CM000673.1:g.71146634_71146635delinsGT	GRCh37
NC_000011.8:g.70824282_70824283delinsGT	NCBI36
NG_012655.2:g.17843_17844delinsAC , LRG_340:g.17843_17844delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1214_1215delinsAC	ENSP00000435707.3:p.His405=
ENST00000526780.6:c.1214_1215delinsAC	ENSP00000435668.2:p.His405=
ENST00000527316.6:c.1040_1041delinsAC	ENSP00000435047.2:p.His347=
ENST00000682708.1:c.1265_1266delinsAC	ENSP00000506866.1:p.His422=
ENST00000683287.1:c.1250_1251delinsAC	ENSP00000507607.1:p.His417=
ENST00000683714.1:c.1222_1223delinsAC	ENSP00000508207.1:p.Thr408=
ENST00000684396.1:n.1254_1255delinsAC
ENST00000685320.1:c.629_630delinsAC	ENSP00000509319.1:p.His210=
ENST00000690257.1:c.1118_1119delinsAC	ENSP00000510750.1:p.His373=
ENST00000355527.8:c.1214_1215delinsAC MANE Select	ENSP00000347717.4:p.His405=
ENST00000355527.7:c.1214_1215delinsAC	ENSP00000347717.3:p.His405=
ENST00000407721.6:c.1214_1215delinsAC	ENSP00000384739.2:p.His405=
ENST00000525137.1:c.715_716delinsAC	ENSP00000435956.1:p.Thr239=
ENST00000533800.5:c.464_465delinsAC	ENSP00000435011.1:p.His155=
ENST00000534795.5:c.319+2223_319+2224delinsAC
NM_001163817.1:c.1214_1215delinsAC	NP_001157289.1:p.His405=
NM_001360.2:c.1214_1215delinsAC , LRG_340t1:c.1214_1215delinsAC	NP_001351.2:p.His405=
XM_011544777.1:c.1348_1349delinsAC	XP_011543079.1:p.Thr450=
XM_011544777.2:c.1348_1349delinsAC	XP_011543079.1:p.Thr450=
NM_001163817.2:c.1214_1215delinsAC	NP_001157289.1:p.His405=
NM_001360.3:c.1214_1215delinsAC MANE Select	NP_001351.2:p.His405=