Canonical Allele Identifier: CA1981488053

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437918_71437921delinsCAGA , CM000673.2:g.71437918_71437921delinsCAGA	GRCh38
NC_000011.9:g.71148964_71148967delinsCAGA , CM000673.1:g.71148964_71148967delinsCAGA	GRCh37
NC_000011.8:g.70826612_70826615delinsCAGA	NCBI36
NG_012655.2:g.15511_15514delinsTCTG , LRG_340:g.15511_15514delinsTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.854_857delinsTCTG	ENSP00000435707.3:p.Phe285=
ENST00000526780.6:c.854_857delinsTCTG	ENSP00000435668.2:p.Phe285=
ENST00000527316.6:c.680_683delinsTCTG	ENSP00000435047.2:p.Phe227=
ENST00000682708.1:c.905_908delinsTCTG	ENSP00000506866.1:p.Phe302=
ENST00000682880.1:c.854_857delinsTCTG	ENSP00000507520.1:p.Phe285=
ENST00000683287.1:c.890_893delinsTCTG	ENSP00000507607.1:p.Phe297=
ENST00000683714.1:c.854_857delinsTCTG	ENSP00000508207.1:p.Phe285=
ENST00000684396.1:n.894_897delinsTCTG
ENST00000685320.1:c.269_272delinsTCTG	ENSP00000509319.1:p.Phe90=
ENST00000690257.1:c.758_761delinsTCTG	ENSP00000510750.1:p.Phe253=
ENST00000355527.8:c.854_857delinsTCTG MANE Select	ENSP00000347717.4:p.Phe285=
ENST00000355527.7:c.854_857delinsTCTG	ENSP00000347717.3:p.Phe285=
ENST00000407721.6:c.854_857delinsTCTG	ENSP00000384739.2:p.Phe285=
ENST00000525137.1:c.221_224delinsTCTG	ENSP00000435956.1:p.Phe74=
ENST00000527316.5:c.758_761delinsTCTG	ENSP00000435047.1:p.Phe253=
ENST00000533800.5:c.104_107delinsTCTG	ENSP00000435011.1:p.Phe35=
ENST00000534795.5:c.210_213delinsTCTG
NM_001163817.1:c.854_857delinsTCTG	NP_001157289.1:p.Phe285=
NM_001360.2:c.854_857delinsTCTG , LRG_340t1:c.854_857delinsTCTG	NP_001351.2:p.Phe285=
XM_011544777.1:c.854_857delinsTCTG	XP_011543079.1:p.Phe285=
XM_011544777.2:c.854_857delinsTCTG	XP_011543079.1:p.Phe285=
NM_001163817.2:c.854_857delinsTCTG	NP_001157289.1:p.Phe285=
NM_001360.3:c.854_857delinsTCTG MANE Select	NP_001351.2:p.Phe285=