Canonical Allele Identifier: CA1981486988

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435729_71435730delinsCT , CM000673.2:g.71435729_71435730delinsCT	GRCh38
NC_000011.9:g.71146775_71146776delinsCT , CM000673.1:g.71146775_71146776delinsCT	GRCh37
NC_000011.8:g.70824423_70824424delinsCT	NCBI36
NG_012655.2:g.17702_17703delinsAG , LRG_340:g.17702_17703delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1073_1074delinsAG	ENSP00000435707.3:p.Lys358=
ENST00000526780.6:c.1073_1074delinsAG	ENSP00000435668.2:p.Lys358=
ENST00000527316.6:c.899_900delinsAG	ENSP00000435047.2:p.Lys300=
ENST00000682708.1:c.1124_1125delinsAG	ENSP00000506866.1:p.Lys375=
ENST00000683287.1:c.1109_1110delinsAG	ENSP00000507607.1:p.Lys370=
ENST00000683714.1:c.1081_1082delinsAG	ENSP00000508207.1:p.Arg361=
ENST00000684396.1:n.1113_1114delinsAG
ENST00000685320.1:c.488_489delinsAG	ENSP00000509319.1:p.Lys163=
ENST00000690257.1:c.977_978delinsAG	ENSP00000510750.1:p.Lys326=
ENST00000355527.8:c.1073_1074delinsAG MANE Select	ENSP00000347717.4:p.Lys358=
ENST00000355527.7:c.1073_1074delinsAG	ENSP00000347717.3:p.Lys358=
ENST00000407721.6:c.1073_1074delinsAG	ENSP00000384739.2:p.Lys358=
ENST00000525137.1:c.574_575delinsAG	ENSP00000435956.1:p.Arg192=
ENST00000533800.5:c.323_324delinsAG	ENSP00000435011.1:p.Lys108=
ENST00000534795.5:c.319+2082_319+2083delinsAG
NM_001163817.1:c.1073_1074delinsAG	NP_001157289.1:p.Lys358=
NM_001360.2:c.1073_1074delinsAG , LRG_340t1:c.1073_1074delinsAG	NP_001351.2:p.Lys358=
XM_011544777.1:c.1207_1208delinsAG	XP_011543079.1:p.Arg403=
XM_011544777.2:c.1207_1208delinsAG	XP_011543079.1:p.Arg403=
NM_001163817.2:c.1073_1074delinsAG	NP_001157289.1:p.Lys358=
NM_001360.3:c.1073_1074delinsAG MANE Select	NP_001351.2:p.Lys358=