Canonical Allele Identifier: CA1981487095
Gene: DHCR7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71435898_71435899delinsTG , CM000673.2:g.71435898_71435899delinsTG GRCh38
NC_000011.9:g.71146944_71146945delinsTG , CM000673.1:g.71146944_71146945delinsTG GRCh37
NC_000011.8:g.70824592_70824593delinsTG NCBI36
NG_012655.2:g.17533_17534delinsCA , LRG_340:g.17533_17534delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.964-60_964-59delinsCA ENSP00000435707.3:n.964-60_964-59delinsCA
ENST00000526780.6:c.964-60_964-59delinsCA ENSP00000435668.2:n.964-60_964-59delinsCA
ENST00000527316.6:c.790-60_790-59delinsCA ENSP00000435047.2:n.790-60_790-59delinsCA
ENST00000682708.1:c.1015-60_1015-59delinsCA ENSP00000506866.1:n.1015-60_1015-59delinsCA
ENST00000683287.1:c.1000-60_1000-59delinsCA ENSP00000507607.1:n.1000-60_1000-59delinsCA
ENST00000683714.1:c.972-60_972-59delinsCA ENSP00000508207.1:n.972-60_972-59delinsCA
ENST00000684396.1:n.1004-60_1004-59delinsCA
ENST00000685320.1:c.379-60_379-59delinsCA ENSP00000509319.1:n.379-60_379-59delinsCA
ENST00000690257.1:c.868-60_868-59delinsCA ENSP00000510750.1:n.868-60_868-59delinsCA
ENST00000355527.8:c.964-60_964-59delinsCA MANE Select ENSP00000347717.4:n.964-60_964-59delinsCA
ENST00000355527.7:c.964-60_964-59delinsCA ENSP00000347717.3:n.964-60_964-59delinsCA
ENST00000407721.6:c.964-60_964-59delinsCA ENSP00000384739.2:n.964-60_964-59delinsCA
ENST00000525137.1:c.405_406delinsCA ENSP00000435956.1:p.Pro135=
ENST00000533800.5:c.214-60_214-59delinsCA ENSP00000435011.1:n.214-60_214-59delinsCA
ENST00000534795.5:c.319+1913_319+1914delinsCA
NM_001163817.1:c.964-60_964-59delinsCA NP_001157289.1:n.964-60_964-59delinsCA
NM_001360.2:c.964-60_964-59delinsCA , LRG_340t1:c.964-60_964-59delinsCA NP_001351.2:n.964-60_964-59delinsCA
XM_011544777.1:c.1038_1039delinsCA XP_011543079.1:p.Pro346=
XM_011544777.2:c.1038_1039delinsCA XP_011543079.1:p.Pro346=
NM_001163817.2:c.964-60_964-59delinsCA NP_001157289.1:n.964-60_964-59delinsCA
NM_001360.3:c.964-60_964-59delinsCA MANE Select NP_001351.2:n.964-60_964-59delinsCA