Canonical Allele Identifier: CA1981487240
Gene: DHCR7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71436234_71436235delinsAG , CM000673.2:g.71436234_71436235delinsAG GRCh38
NC_000011.9:g.71147280_71147281delinsAG , CM000673.1:g.71147280_71147281delinsAG GRCh37
NC_000011.8:g.70824928_70824929delinsAG NCBI36
NG_012655.2:g.17197_17198delinsCT , LRG_340:g.17197_17198delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.964-396_964-395delinsCT ENSP00000435707.3:n.964-396_964-395delinsCT
ENST00000526780.6:c.964-396_964-395delinsCT ENSP00000435668.2:n.964-396_964-395delinsCT
ENST00000527316.6:c.790-396_790-395delinsCT ENSP00000435047.2:n.790-396_790-395delinsCT
ENST00000682708.1:c.1015-396_1015-395delinsCT ENSP00000506866.1:n.1015-396_1015-395delinsCT
ENST00000683287.1:c.1000-396_1000-395delinsCT ENSP00000507607.1:n.1000-396_1000-395delinsCT
ENST00000683714.1:c.972-396_972-395delinsCT ENSP00000508207.1:n.972-396_972-395delinsCT
ENST00000684396.1:n.1004-396_1004-395delinsCT
ENST00000685320.1:c.379-396_379-395delinsCT ENSP00000509319.1:n.379-396_379-395delinsCT
ENST00000690257.1:c.868-396_868-395delinsCT ENSP00000510750.1:n.868-396_868-395delinsCT
ENST00000355527.8:c.964-396_964-395delinsCT MANE Select ENSP00000347717.4:n.964-396_964-395delinsCT
ENST00000355527.7:c.964-396_964-395delinsCT ENSP00000347717.3:n.964-396_964-395delinsCT
ENST00000407721.6:c.964-396_964-395delinsCT ENSP00000384739.2:n.964-396_964-395delinsCT
ENST00000525137.1:c.331-262_331-261delinsCT ENSP00000435956.1:n.331-262_331-261delinsCT
ENST00000533800.5:c.214-396_214-395delinsCT ENSP00000435011.1:n.214-396_214-395delinsCT
ENST00000534795.5:c.319+1577_319+1578delinsCT
NM_001163817.1:c.964-396_964-395delinsCT NP_001157289.1:n.964-396_964-395delinsCT
NM_001360.2:c.964-396_964-395delinsCT , LRG_340t1:c.964-396_964-395delinsCT NP_001351.2:n.964-396_964-395delinsCT
XM_011544777.1:c.964-262_964-261delinsCT XP_011543079.1:n.964-262_964-261delinsCT
XM_011544777.2:c.964-262_964-261delinsCT XP_011543079.1:n.964-262_964-261delinsCT
NM_001163817.2:c.964-396_964-395delinsCT NP_001157289.1:n.964-396_964-395delinsCT
NM_001360.3:c.964-396_964-395delinsCT MANE Select NP_001351.2:n.964-396_964-395delinsCT