Canonical Allele Identifier: CA1981486990

Gene: DHCR7

Linked Data

• dbSNP Id: rs1949271701

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435731del , CM000673.2:g.71435731del	GRCh38
NC_000011.9:g.71146777del , CM000673.1:g.71146777del	GRCh37
NC_000011.8:g.70824425del	NCBI36
NG_012655.2:g.17702del , LRG_340:g.17702del

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1073del	ENSP00000435707.3:p.Lys358ArgfsTer?
ENST00000526780.6:c.1073del	ENSP00000435668.2:p.Lys358ArgfsTer?
ENST00000527316.6:c.899del	ENSP00000435047.2:p.Lys300ArgfsTer?
ENST00000682708.1:c.1124del	ENSP00000506866.1:p.Lys375ArgfsTer?
ENST00000683287.1:c.1109del	ENSP00000507607.1:p.Lys370ArgfsTer?
ENST00000683714.1:c.1081del	ENSP00000508207.1:p.Arg361GlyfsTer?
ENST00000684396.1:n.1113del
ENST00000685320.1:c.488del	ENSP00000509319.1:p.Lys163ArgfsTer?
ENST00000690257.1:c.977del	ENSP00000510750.1:p.Lys326ArgfsTer?
ENST00000355527.8:c.1073del MANE Select	ENSP00000347717.4:p.Lys358ArgfsTer?
ENST00000355527.7:c.1073del	ENSP00000347717.3:p.Lys358ArgfsTer?
ENST00000407721.6:c.1073del	ENSP00000384739.2:p.Lys358ArgfsTer?
ENST00000525137.1:c.574del	ENSP00000435956.1:p.Arg192GlyfsTer?
ENST00000533800.5:c.323del	ENSP00000435011.1:p.Lys108ArgfsTer?
ENST00000534795.5:c.319+2082del
NM_001163817.1:c.1073del	NP_001157289.1:p.Lys358ArgfsTer?
NM_001360.2:c.1073del , LRG_340t1:c.1073del	NP_001351.2:p.Lys358ArgfsTer?
XM_011544777.1:c.1207del	XP_011543079.1:p.Arg403GlyfsTer?
XM_011544777.2:c.1207del	XP_011543079.1:p.Arg403GlyfsTer?
NM_001163817.2:c.1073del	NP_001157289.1:p.Lys358ArgfsTer?
NM_001360.3:c.1073del MANE Select	NP_001351.2:p.Lys358ArgfsTer?