Canonical Allele Identifier: CA2614857187

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435685-C-CGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435685_71435686insGGAA , CM000673.2:g.71435685_71435686insGGAA	GRCh38
NC_000011.9:g.71146731_71146732insGGAA , CM000673.1:g.71146731_71146732insGGAA	GRCh37
NC_000011.8:g.70824379_70824380insGGAA	NCBI36
NG_012655.2:g.17746_17747insTTCC , LRG_340:g.17746_17747insTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1117_1118insTTCC	ENSP00000435707.3:p.Arg373IlefsTer?
ENST00000526780.6:c.1117_1118insTTCC	ENSP00000435668.2:p.Arg373IlefsTer?
ENST00000527316.6:c.943_944insTTCC	ENSP00000435047.2:p.Arg315IlefsTer?
ENST00000682708.1:c.1168_1169insTTCC	ENSP00000506866.1:p.Arg390IlefsTer?
ENST00000683287.1:c.1153_1154insTTCC	ENSP00000507607.1:p.Arg385IlefsTer?
ENST00000683714.1:c.1125_1126insTTCC	ENSP00000508207.1:p.Gly376PhefsTer?
ENST00000684396.1:n.1157_1158insTTCC
ENST00000685320.1:c.532_533insTTCC	ENSP00000509319.1:p.Arg178IlefsTer?
ENST00000690257.1:c.1021_1022insTTCC	ENSP00000510750.1:p.Arg341IlefsTer?
ENST00000355527.8:c.1117_1118insTTCC MANE Select	ENSP00000347717.4:p.Arg373IlefsTer?
ENST00000355527.7:c.1117_1118insTTCC	ENSP00000347717.3:p.Arg373IlefsTer?
ENST00000407721.6:c.1117_1118insTTCC	ENSP00000384739.2:p.Arg373IlefsTer?
ENST00000525137.1:c.618_619insTTCC	ENSP00000435956.1:p.Gly207PhefsTer?
ENST00000533800.5:c.367_368insTTCC	ENSP00000435011.1:p.Arg123IlefsTer?
ENST00000534795.5:c.319+2126_319+2127insTTCC
NM_001163817.1:c.1117_1118insTTCC	NP_001157289.1:p.Arg373IlefsTer?
NM_001360.2:c.1117_1118insTTCC , LRG_340t1:c.1117_1118insTTCC	NP_001351.2:p.Arg373IlefsTer?
XM_011544777.1:c.1251_1252insTTCC	XP_011543079.1:p.Gly418PhefsTer?
XM_011544777.2:c.1251_1252insTTCC	XP_011543079.1:p.Gly418PhefsTer?
NM_001163817.2:c.1117_1118insTTCC	NP_001157289.1:p.Arg373IlefsTer?
NM_001360.3:c.1117_1118insTTCC MANE Select	NP_001351.2:p.Arg373IlefsTer?