Canonical Allele Identifier: CA2839584335

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71443987dup , CM000673.2:g.71443987dup	GRCh38
NC_000011.9:g.71155033dup , CM000673.1:g.71155033dup	GRCh37
NC_000011.8:g.70832681dup	NCBI36
NG_012655.2:g.9445dup , LRG_340:g.9445dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.321+6dup	ENSP00000435707.3:n.321+6dup
ENST00000526780.6:c.321+6dup	ENSP00000435668.2:n.321+6dup
ENST00000527316.6:c.147+6dup	ENSP00000435047.2:n.147+6dup
ENST00000682708.1:c.321+6dup	ENSP00000506866.1:n.321+6dup
ENST00000682880.1:c.321+6dup	ENSP00000507520.1:n.321+6dup
ENST00000683287.1:c.327dup	ENSP00000507607.1:p.Ser110GlnfsTer19
ENST00000683714.1:c.321+6dup	ENSP00000508207.1:n.321+6dup
ENST00000683874.1:n.598+6dup
ENST00000685320.1:c.-265+6dup	ENSP00000509319.1:n.-265+6dup
ENST00000690257.1:c.225+6dup	ENSP00000510750.1:n.225+6dup
ENST00000355527.8:c.321+6dup MANE Select	ENSP00000347717.4:n.321+6dup
ENST00000355527.7:c.321+6dup	ENSP00000347717.3:n.321+6dup
ENST00000407721.6:c.321+6dup	ENSP00000384739.2:n.321+6dup
ENST00000526780.5:c.321+6dup	ENSP00000435668.1:n.321+6dup
ENST00000527316.5:c.225+6dup	ENSP00000435047.1:n.225+6dup
NM_001163817.1:c.321+6dup	NP_001157289.1:n.321+6dup
NM_001360.2:c.321+6dup , LRG_340t1:c.321+6dup	NP_001351.2:n.321+6dup
XM_011544777.1:c.321+6dup	XP_011543079.1:n.321+6dup
XM_011544777.2:c.321+6dup	XP_011543079.1:n.321+6dup
NM_001163817.2:c.321+6dup	NP_001157289.1:n.321+6dup
NM_001360.3:c.321+6dup MANE Select	NP_001351.2:n.321+6dup