Canonical Allele Identifier: CA1981487213

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71436150_71436151delinsTG , CM000673.2:g.71436150_71436151delinsTG	GRCh38
NC_000011.9:g.71147196_71147197delinsTG , CM000673.1:g.71147196_71147197delinsTG	GRCh37
NC_000011.8:g.70824844_70824845delinsTG	NCBI36
NG_012655.2:g.17281_17282delinsCA , LRG_340:g.17281_17282delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.964-312_964-311delinsCA	ENSP00000435707.3:n.964-312_964-311delinsCA
ENST00000526780.6:c.964-312_964-311delinsCA	ENSP00000435668.2:n.964-312_964-311delinsCA
ENST00000527316.6:c.790-312_790-311delinsCA	ENSP00000435047.2:n.790-312_790-311delinsCA
ENST00000682708.1:c.1015-312_1015-311delinsCA	ENSP00000506866.1:n.1015-312_1015-311delinsCA
ENST00000683287.1:c.1000-312_1000-311delinsCA	ENSP00000507607.1:n.1000-312_1000-311delinsCA
ENST00000683714.1:c.972-312_972-311delinsCA	ENSP00000508207.1:n.972-312_972-311delinsCA
ENST00000684396.1:n.1004-312_1004-311delinsCA
ENST00000685320.1:c.379-312_379-311delinsCA	ENSP00000509319.1:n.379-312_379-311delinsCA
ENST00000690257.1:c.868-312_868-311delinsCA	ENSP00000510750.1:n.868-312_868-311delinsCA
ENST00000355527.8:c.964-312_964-311delinsCA MANE Select	ENSP00000347717.4:n.964-312_964-311delinsCA
ENST00000355527.7:c.964-312_964-311delinsCA	ENSP00000347717.3:n.964-312_964-311delinsCA
ENST00000407721.6:c.964-312_964-311delinsCA	ENSP00000384739.2:n.964-312_964-311delinsCA
ENST00000525137.1:c.331-178_331-177delinsCA	ENSP00000435956.1:n.331-178_331-177delinsCA
ENST00000533800.5:c.214-312_214-311delinsCA	ENSP00000435011.1:n.214-312_214-311delinsCA
ENST00000534795.5:c.319+1661_319+1662delinsCA
NM_001163817.1:c.964-312_964-311delinsCA	NP_001157289.1:n.964-312_964-311delinsCA
NM_001360.2:c.964-312_964-311delinsCA , LRG_340t1:c.964-312_964-311delinsCA	NP_001351.2:n.964-312_964-311delinsCA
XM_011544777.1:c.964-178_964-177delinsCA	XP_011543079.1:n.964-178_964-177delinsCA
XM_011544777.2:c.964-178_964-177delinsCA	XP_011543079.1:n.964-178_964-177delinsCA
NM_001163817.2:c.964-312_964-311delinsCA	NP_001157289.1:n.964-312_964-311delinsCA
NM_001360.3:c.964-312_964-311delinsCA MANE Select	NP_001351.2:n.964-312_964-311delinsCA