Canonical Allele Identifier: CA679810499
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2918569
ClinVar RCV Id: RCV003619123
dbSNP Id: rs1247059842

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71435497_71435511del , CM000673.2:g.71435497_71435511del GRCh38
NC_000011.9:g.71146543_71146557del , CM000673.1:g.71146543_71146557del GRCh37
NC_000011.8:g.70824191_70824205del NCBI36
NG_012655.2:g.17922_17936del , LRG_340:g.17922_17936del

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.1293_1307del ENSP00000435707.3:p.Phe431_Met436delinsLeu
ENST00000526780.6:c.1293_1307del ENSP00000435668.2:p.Phe431_Met436delinsLeu
ENST00000527316.6:c.1119_1133del ENSP00000435047.2:p.Phe373_Met378delinsLeu
ENST00000682708.1:c.1344_1358del ENSP00000506866.1:p.Phe448_Met453delinsLeu
ENST00000683287.1:c.1329_1343del ENSP00000507607.1:p.Phe443_Met448delinsLeu
ENST00000683714.1:c.*56_*70del ENSP00000508207.1:n.*56_*70del
ENST00000684396.1:n.1333_1347del
ENST00000685320.1:c.708_722del ENSP00000509319.1:p.Phe236_Met241delinsLeu
ENST00000690257.1:c.1197_1211del ENSP00000510750.1:p.Phe399_Met404delinsLeu
ENST00000355527.8:c.1293_1307del MANE Select ENSP00000347717.4:p.Phe431_Met436delinsLeu
ENST00000355527.7:c.1293_1307del ENSP00000347717.3:p.Phe431_Met436delinsLeu
ENST00000407721.6:c.1293_1307del ENSP00000384739.2:p.Phe431_Met436delinsLeu
ENST00000525137.1:c.794_808del ENSP00000435956.1:n.794_808del
ENST00000533800.5:c.543_557del ENSP00000435011.1:p.Phe181_Met186delinsLeu
ENST00000534795.5:c.319+2302_319+2316del
NM_001163817.1:c.1293_1307del NP_001157289.1:p.Phe431_Met436delinsLeu
NM_001360.2:c.1293_1307del , LRG_340t1:c.1293_1307del NP_001351.2:p.Phe431_Met436delinsLeu
XM_011544777.1:c.*56_*70del XP_011543079.1:n.*56_*70del
XM_011544777.2:c.*56_*70del XP_011543079.1:n.*56_*70del
NM_001163817.2:c.1293_1307del NP_001157289.1:p.Phe431_Met436delinsLeu
NM_001360.3:c.1293_1307del MANE Select NP_001351.2:p.Phe431_Met436delinsLeu