Canonical Allele Identifier: CA1981486923

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435627_71435628delinsGC , CM000673.2:g.71435627_71435628delinsGC	GRCh38
NC_000011.9:g.71146673_71146674delinsGC , CM000673.1:g.71146673_71146674delinsGC	GRCh37
NC_000011.8:g.70824321_70824322delinsGC	NCBI36
NG_012655.2:g.17804_17805delinsGC , LRG_340:g.17804_17805delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1175_1176delinsGC	ENSP00000435707.3:p.Ser392=
ENST00000526780.6:c.1175_1176delinsGC	ENSP00000435668.2:p.Ser392=
ENST00000527316.6:c.1001_1002delinsGC	ENSP00000435047.2:p.Ser334=
ENST00000682708.1:c.1226_1227delinsGC	ENSP00000506866.1:p.Ser409=
ENST00000683287.1:c.1211_1212delinsGC	ENSP00000507607.1:p.Ser404=
ENST00000683714.1:c.1183_1184delinsGC	ENSP00000508207.1:p.Ala395=
ENST00000684396.1:n.1215_1216delinsGC
ENST00000685320.1:c.590_591delinsGC	ENSP00000509319.1:p.Ser197=
ENST00000690257.1:c.1079_1080delinsGC	ENSP00000510750.1:p.Ser360=
ENST00000355527.8:c.1175_1176delinsGC MANE Select	ENSP00000347717.4:p.Ser392=
ENST00000355527.7:c.1175_1176delinsGC	ENSP00000347717.3:p.Ser392=
ENST00000407721.6:c.1175_1176delinsGC	ENSP00000384739.2:p.Ser392=
ENST00000525137.1:c.676_677delinsGC	ENSP00000435956.1:p.Ala226=
ENST00000533800.5:c.425_426delinsGC	ENSP00000435011.1:p.Ser142=
ENST00000534795.5:c.319+2184_319+2185delinsGC
NM_001163817.1:c.1175_1176delinsGC	NP_001157289.1:p.Ser392=
NM_001360.2:c.1175_1176delinsGC , LRG_340t1:c.1175_1176delinsGC	NP_001351.2:p.Ser392=
XM_011544777.1:c.1309_1310delinsGC	XP_011543079.1:p.Ala437=
XM_011544777.2:c.1309_1310delinsGC	XP_011543079.1:p.Ala437=
NM_001163817.2:c.1175_1176delinsGC	NP_001157289.1:p.Ser392=
NM_001360.3:c.1175_1176delinsGC MANE Select	NP_001351.2:p.Ser392=