Canonical Allele Identifier: CA1981487104
Gene: DHCR7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71435913_71435914delinsAG , CM000673.2:g.71435913_71435914delinsAG GRCh38
NC_000011.9:g.71146959_71146960delinsAG , CM000673.1:g.71146959_71146960delinsAG GRCh37
NC_000011.8:g.70824607_70824608delinsAG NCBI36
NG_012655.2:g.17518_17519delinsCT , LRG_340:g.17518_17519delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.964-75_964-74delinsCT ENSP00000435707.3:n.964-75_964-74delinsCT
ENST00000526780.6:c.964-75_964-74delinsCT ENSP00000435668.2:n.964-75_964-74delinsCT
ENST00000527316.6:c.790-75_790-74delinsCT ENSP00000435047.2:n.790-75_790-74delinsCT
ENST00000682708.1:c.1015-75_1015-74delinsCT ENSP00000506866.1:n.1015-75_1015-74delinsCT
ENST00000683287.1:c.1000-75_1000-74delinsCT ENSP00000507607.1:n.1000-75_1000-74delinsCT
ENST00000683714.1:c.972-75_972-74delinsCT ENSP00000508207.1:n.972-75_972-74delinsCT
ENST00000684396.1:n.1004-75_1004-74delinsCT
ENST00000685320.1:c.379-75_379-74delinsCT ENSP00000509319.1:n.379-75_379-74delinsCT
ENST00000690257.1:c.868-75_868-74delinsCT ENSP00000510750.1:n.868-75_868-74delinsCT
ENST00000355527.8:c.964-75_964-74delinsCT MANE Select ENSP00000347717.4:n.964-75_964-74delinsCT
ENST00000355527.7:c.964-75_964-74delinsCT ENSP00000347717.3:n.964-75_964-74delinsCT
ENST00000407721.6:c.964-75_964-74delinsCT ENSP00000384739.2:n.964-75_964-74delinsCT
ENST00000525137.1:c.390_391delinsCT ENSP00000435956.1:p.Arg130=
ENST00000533800.5:c.214-75_214-74delinsCT ENSP00000435011.1:n.214-75_214-74delinsCT
ENST00000534795.5:c.319+1898_319+1899delinsCT
NM_001163817.1:c.964-75_964-74delinsCT NP_001157289.1:n.964-75_964-74delinsCT
NM_001360.2:c.964-75_964-74delinsCT , LRG_340t1:c.964-75_964-74delinsCT NP_001351.2:n.964-75_964-74delinsCT
XM_011544777.1:c.1023_1024delinsCT XP_011543079.1:p.Arg341=
XM_011544777.2:c.1023_1024delinsCT XP_011543079.1:p.Arg341=
NM_001163817.2:c.964-75_964-74delinsCT NP_001157289.1:n.964-75_964-74delinsCT
NM_001360.3:c.964-75_964-74delinsCT MANE Select NP_001351.2:n.964-75_964-74delinsCT