Canonical Allele Identifier: CA2580084825

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 6777
• ClinVar RCV Id: RCV000007179

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444123_71444218del , CM000673.2:g.71444123_71444218del	GRCh38
NC_000011.9:g.71155169_71155264del , CM000673.1:g.71155169_71155264del	GRCh37
NC_000011.8:g.70832817_70832912del	NCBI36
NG_012655.2:g.9217_9312del , LRG_340:g.9217_9312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.99_194del
ENST00000526780.6:c.99_194del
ENST00000527316.6:c.-76_20del
ENST00000529990.6:c.-76_20del
ENST00000682708.1:c.99_194del
ENST00000682880.1:c.99_194del
ENST00000683287.1:c.99_194del
ENST00000683714.1:c.99_194del
ENST00000683874.1:n.376_471del
ENST00000685320.1:c.-333-154_-333-59del	ENSP00000509319.1:n.-333-154_-333-59del
ENST00000690257.1:c.99-96_99-1del	ENSP00000510750.1:n.99-96_99-1del
ENST00000355527.8:c.99_194del
ENST00000355527.7:c.99_194del
ENST00000407721.6:c.99_194del
ENST00000525346.5:c.99_194del
ENST00000526780.5:c.99_194del
ENST00000527316.5:c.99-96_99-1del	ENSP00000435047.1:n.99-96_99-1del
ENST00000527452.1:c.99_194del
ENST00000529990.5:c.39_134del	ENSP00000435058.1:p.Arg13_Tyr44del
ENST00000531364.5:c.99_194del
NM_001163817.1:c.99_194del
NM_001360.2:c.99_194del , LRG_340t1:c.99_194del
XM_011544777.1:c.99_194del
XM_011544777.2:c.99_194del
NM_001163817.2:c.99_194del
NM_001360.3:c.99_194del