Canonical Allele Identifier: CA1981488046

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437908_71437925delinsGGTTTCGTTCCAGAAGAA , CM000673.2:g.71437908_71437925delinsGGTTTCGTTCCAGAAGAA	GRCh38
NC_000011.9:g.71148954_71148971delinsGGTTTCGTTCCAGAAGAA , CM000673.1:g.71148954_71148971delinsGGTTTCGTTCCAGAAGAA	GRCh37
NC_000011.8:g.70826602_70826619delinsGGTTTCGTTCCAGAAGAA	NCBI36
NG_012655.2:g.15507_15524delinsTTCTTCTGGAACGAAACC , LRG_340:g.15507_15524delinsTTCTTCTGGAACGAAACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.850_867delinsTTCTTCTGGAACGAAACC	ENSP00000435707.3:p.Phe284=
ENST00000526780.6:c.850_867delinsTTCTTCTGGAACGAAACC	ENSP00000435668.2:p.Phe284=
ENST00000527316.6:c.676_693delinsTTCTTCTGGAACGAAACC	ENSP00000435047.2:p.Phe226=
ENST00000682708.1:c.901_918delinsTTCTTCTGGAACGAAACC	ENSP00000506866.1:p.Phe301=
ENST00000682880.1:c.850_867delinsTTCTTCTGGAACGAAACC	ENSP00000507520.1:p.Phe284=
ENST00000683287.1:c.886_903delinsTTCTTCTGGAACGAAACC	ENSP00000507607.1:p.Phe296=
ENST00000683714.1:c.850_867delinsTTCTTCTGGAACGAAACC	ENSP00000508207.1:p.Phe284=
ENST00000684396.1:n.890_907delinsTTCTTCTGGAACGAAACC
ENST00000685320.1:c.265_282delinsTTCTTCTGGAACGAAACC	ENSP00000509319.1:p.Phe89=
ENST00000690257.1:c.754_771delinsTTCTTCTGGAACGAAACC	ENSP00000510750.1:p.Phe252=
ENST00000355527.8:c.850_867delinsTTCTTCTGGAACGAAACC MANE Select	ENSP00000347717.4:p.Phe284=
ENST00000355527.7:c.850_867delinsTTCTTCTGGAACGAAACC	ENSP00000347717.3:p.Phe284=
ENST00000407721.6:c.850_867delinsTTCTTCTGGAACGAAACC	ENSP00000384739.2:p.Phe284=
ENST00000525137.1:c.217_234delinsTTCTTCTGGAACGAAACC	ENSP00000435956.1:p.Phe73=
ENST00000527316.5:c.754_771delinsTTCTTCTGGAACGAAACC	ENSP00000435047.1:p.Phe252=
ENST00000533800.5:c.100_117delinsTTCTTCTGGAACGAAACC	ENSP00000435011.1:p.Phe34=
ENST00000534795.5:c.206_223delinsTTCTTCTGGAACGAAACC
NM_001163817.1:c.850_867delinsTTCTTCTGGAACGAAACC	NP_001157289.1:p.Phe284=
NM_001360.2:c.850_867delinsTTCTTCTGGAACGAAACC , LRG_340t1:c.850_867delinsTTCTTCTGGAACGAAACC	NP_001351.2:p.Phe284=
XM_011544777.1:c.850_867delinsTTCTTCTGGAACGAAACC	XP_011543079.1:p.Phe284=
XM_011544777.2:c.850_867delinsTTCTTCTGGAACGAAACC	XP_011543079.1:p.Phe284=
NM_001163817.2:c.850_867delinsTTCTTCTGGAACGAAACC	NP_001157289.1:p.Phe284=
NM_001360.3:c.850_867delinsTTCTTCTGGAACGAAACC MANE Select	NP_001351.2:p.Phe284=