Canonical Allele Identifier: CA1981487078
Gene: DHCR7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71435879_71435880delinsCA , CM000673.2:g.71435879_71435880delinsCA GRCh38
NC_000011.9:g.71146925_71146926delinsCA , CM000673.1:g.71146925_71146926delinsCA GRCh37
NC_000011.8:g.70824573_70824574delinsCA NCBI36
NG_012655.2:g.17552_17553delinsTG , LRG_340:g.17552_17553delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.964-41_964-40delinsTG ENSP00000435707.3:n.964-41_964-40delinsTG
ENST00000526780.6:c.964-41_964-40delinsTG ENSP00000435668.2:n.964-41_964-40delinsTG
ENST00000527316.6:c.790-41_790-40delinsTG ENSP00000435047.2:n.790-41_790-40delinsTG
ENST00000682708.1:c.1015-41_1015-40delinsTG ENSP00000506866.1:n.1015-41_1015-40delinsTG
ENST00000683287.1:c.1000-41_1000-40delinsTG ENSP00000507607.1:n.1000-41_1000-40delinsTG
ENST00000683714.1:c.972-41_972-40delinsTG ENSP00000508207.1:n.972-41_972-40delinsTG
ENST00000684396.1:n.1004-41_1004-40delinsTG
ENST00000685320.1:c.379-41_379-40delinsTG ENSP00000509319.1:n.379-41_379-40delinsTG
ENST00000690257.1:c.868-41_868-40delinsTG ENSP00000510750.1:n.868-41_868-40delinsTG
ENST00000355527.8:c.964-41_964-40delinsTG MANE Select ENSP00000347717.4:n.964-41_964-40delinsTG
ENST00000355527.7:c.964-41_964-40delinsTG ENSP00000347717.3:n.964-41_964-40delinsTG
ENST00000407721.6:c.964-41_964-40delinsTG ENSP00000384739.2:n.964-41_964-40delinsTG
ENST00000525137.1:c.424_425delinsTG ENSP00000435956.1:p.Trp142=
ENST00000533800.5:c.214-41_214-40delinsTG ENSP00000435011.1:n.214-41_214-40delinsTG
ENST00000534795.5:c.319+1932_319+1933delinsTG
NM_001163817.1:c.964-41_964-40delinsTG NP_001157289.1:n.964-41_964-40delinsTG
NM_001360.2:c.964-41_964-40delinsTG , LRG_340t1:c.964-41_964-40delinsTG NP_001351.2:n.964-41_964-40delinsTG
XM_011544777.1:c.1057_1058delinsTG XP_011543079.1:p.Trp353=
XM_011544777.2:c.1057_1058delinsTG XP_011543079.1:p.Trp353=
NM_001163817.2:c.964-41_964-40delinsTG NP_001157289.1:n.964-41_964-40delinsTG
NM_001360.3:c.964-41_964-40delinsTG MANE Select NP_001351.2:n.964-41_964-40delinsTG