Canonical Allele Identifier: CA1981487989
Gene: DHCR7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71437798_71437799delinsGC , CM000673.2:g.71437798_71437799delinsGC GRCh38
NC_000011.9:g.71148844_71148845delinsGC , CM000673.1:g.71148844_71148845delinsGC GRCh37
NC_000011.8:g.70826492_70826493delinsGC NCBI36
NG_012655.2:g.15633_15634delinsGC , LRG_340:g.15633_15634delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.963+13_963+14delinsGC ENSP00000435707.3:n.963+13_963+14delinsGC
ENST00000526780.6:c.963+13_963+14delinsGC ENSP00000435668.2:n.963+13_963+14delinsGC
ENST00000527316.6:c.789+13_789+14delinsGC ENSP00000435047.2:n.789+13_789+14delinsGC
ENST00000682708.1:c.1014+13_1014+14delinsGC ENSP00000506866.1:n.1014+13_1014+14delinsGC
ENST00000682880.1:c.976_977delinsGC ENSP00000507520.1:p.Ala326=
ENST00000683287.1:c.999+13_999+14delinsGC ENSP00000507607.1:n.999+13_999+14delinsGC
ENST00000683714.1:c.971+5_971+6delinsGC ENSP00000508207.1:n.971+5_971+6delinsGC
ENST00000684396.1:n.1003+13_1003+14delinsGC
ENST00000685320.1:c.378+13_378+14delinsGC ENSP00000509319.1:n.378+13_378+14delinsGC
ENST00000690257.1:c.867+13_867+14delinsGC ENSP00000510750.1:n.867+13_867+14delinsGC
ENST00000355527.8:c.963+13_963+14delinsGC MANE Select ENSP00000347717.4:n.963+13_963+14delinsGC
ENST00000355527.7:c.963+13_963+14delinsGC ENSP00000347717.3:n.963+13_963+14delinsGC
ENST00000407721.6:c.963+13_963+14delinsGC ENSP00000384739.2:n.963+13_963+14delinsGC
ENST00000525137.1:c.330+13_330+14delinsGC ENSP00000435956.1:n.330+13_330+14delinsGC
ENST00000533800.5:c.213+13_213+14delinsGC ENSP00000435011.1:n.213+13_213+14delinsGC
ENST00000534795.5:c.319+13_319+14delinsGC
NM_001163817.1:c.963+13_963+14delinsGC NP_001157289.1:n.963+13_963+14delinsGC
NM_001360.2:c.963+13_963+14delinsGC , LRG_340t1:c.963+13_963+14delinsGC NP_001351.2:n.963+13_963+14delinsGC
XM_011544777.1:c.963+13_963+14delinsGC XP_011543079.1:n.963+13_963+14delinsGC
XM_011544777.2:c.963+13_963+14delinsGC XP_011543079.1:n.963+13_963+14delinsGC
NM_001163817.2:c.963+13_963+14delinsGC NP_001157289.1:n.963+13_963+14delinsGC
NM_001360.3:c.963+13_963+14delinsGC MANE Select NP_001351.2:n.963+13_963+14delinsGC