Canonical Allele Identifier: CA2842972957

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435647del , CM000673.2:g.71435647del	GRCh38
NC_000011.9:g.71146693del , CM000673.1:g.71146693del	GRCh37
NC_000011.8:g.70824341del	NCBI36
NG_012655.2:g.17785del , LRG_340:g.17785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1156del	ENSP00000435707.3:p.Asp386MetfsTer27
ENST00000526780.6:c.1156del	ENSP00000435668.2:p.Asp386MetfsTer27
ENST00000527316.6:c.982del	ENSP00000435047.2:p.Asp328MetfsTer27
ENST00000682708.1:c.1207del	ENSP00000506866.1:p.Asp403MetfsTer27
ENST00000683287.1:c.1192del	ENSP00000507607.1:p.Asp398MetfsTer27
ENST00000683714.1:c.1164del	ENSP00000508207.1:p.Met389TrpfsTer?
ENST00000684396.1:n.1196del
ENST00000685320.1:c.571del	ENSP00000509319.1:p.Asp191MetfsTer27
ENST00000690257.1:c.1060del	ENSP00000510750.1:p.Asp354MetfsTer27
ENST00000355527.8:c.1156del MANE Select	ENSP00000347717.4:p.Asp386MetfsTer27
ENST00000355527.7:c.1156del	ENSP00000347717.3:p.Asp386MetfsTer27
ENST00000407721.6:c.1156del	ENSP00000384739.2:p.Asp386MetfsTer27
ENST00000525137.1:c.657del	ENSP00000435956.1:p.Met220TrpfsTer?
ENST00000533800.5:c.406del	ENSP00000435011.1:p.Asp136MetfsTer27
ENST00000534795.5:c.319+2165del
NM_001163817.1:c.1156del	NP_001157289.1:p.Asp386MetfsTer27
NM_001360.2:c.1156del , LRG_340t1:c.1156del	NP_001351.2:p.Asp386MetfsTer27
XM_011544777.1:c.1290del	XP_011543079.1:p.Met431TrpfsTer?
XM_011544777.2:c.1290del	XP_011543079.1:p.Met431TrpfsTer?
NM_001163817.2:c.1156del	NP_001157289.1:p.Asp386MetfsTer27
NM_001360.3:c.1156del MANE Select	NP_001351.2:p.Asp386MetfsTer27