Canonical Allele Identifier: CA1981488013

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437839_71437841delinsGAC , CM000673.2:g.71437839_71437841delinsGAC	GRCh38
NC_000011.9:g.71148885_71148887delinsGAC , CM000673.1:g.71148885_71148887delinsGAC	GRCh37
NC_000011.8:g.70826533_70826535delinsGAC	NCBI36
NG_012655.2:g.15591_15593delinsGTC , LRG_340:g.15591_15593delinsGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.934_936delinsGTC	ENSP00000435707.3:p.Val312=
ENST00000526780.6:c.934_936delinsGTC	ENSP00000435668.2:p.Val312=
ENST00000527316.6:c.760_762delinsGTC	ENSP00000435047.2:p.Val254=
ENST00000682708.1:c.985_987delinsGTC	ENSP00000506866.1:p.Val329=
ENST00000682880.1:c.934_936delinsGTC	ENSP00000507520.1:p.Val312=
ENST00000683287.1:c.970_972delinsGTC	ENSP00000507607.1:p.Val324=
ENST00000683714.1:c.934_936delinsGTC	ENSP00000508207.1:p.Val312=
ENST00000684396.1:n.974_976delinsGTC
ENST00000685320.1:c.349_351delinsGTC	ENSP00000509319.1:p.Val117=
ENST00000690257.1:c.838_840delinsGTC	ENSP00000510750.1:p.Val280=
ENST00000355527.8:c.934_936delinsGTC MANE Select	ENSP00000347717.4:p.Val312=
ENST00000355527.7:c.934_936delinsGTC	ENSP00000347717.3:p.Val312=
ENST00000407721.6:c.934_936delinsGTC	ENSP00000384739.2:p.Val312=
ENST00000525137.1:c.301_303delinsGTC	ENSP00000435956.1:p.Val101=
ENST00000533800.5:c.184_186delinsGTC	ENSP00000435011.1:p.Val62=
ENST00000534795.5:c.290_292delinsGTC
NM_001163817.1:c.934_936delinsGTC	NP_001157289.1:p.Val312=
NM_001360.2:c.934_936delinsGTC , LRG_340t1:c.934_936delinsGTC	NP_001351.2:p.Val312=
XM_011544777.1:c.934_936delinsGTC	XP_011543079.1:p.Val312=
XM_011544777.2:c.934_936delinsGTC	XP_011543079.1:p.Val312=
NM_001163817.2:c.934_936delinsGTC	NP_001157289.1:p.Val312=
NM_001360.3:c.934_936delinsGTC MANE Select	NP_001351.2:p.Val312=