Canonical Allele Identifier: CA939377949

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444876_71444906del , CM000673.2:g.71444876_71444906del	GRCh38
NC_000011.9:g.71155922_71155952del , CM000673.1:g.71155922_71155952del	GRCh37
NC_000011.8:g.70833570_70833600del	NCBI36
NG_012655.2:g.8527_8557del , LRG_340:g.8527_8557del

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.48_78del MANE Select	NP_001351.2:p.Asp16GlufsTer?
ENST00000355527.8:c.48_78del MANE Select	ENSP00000347717.4:p.Asp16GlufsTer?
NM_001163817.1:c.48_78del	NP_001157289.1:p.Asp16GlufsTer?
NM_001163817.2:c.48_78del	NP_001157289.1:p.Asp16GlufsTer?
NM_001360.2:c.48_78del , LRG_340t1:c.48_78del	NP_001351.2:p.Asp16GlufsTer?
ENST00000355527.7:c.48_78del	ENSP00000347717.3:p.Asp16GlufsTer?
ENST00000407721.6:c.48_78del	ENSP00000384739.2:p.Asp16GlufsTer?
ENST00000525346.5:c.48_78del	ENSP00000435707.2:p.Asp16GlufsTer?
ENST00000525346.6:c.48_78del	ENSP00000435707.3:p.Asp16GlufsTer?
ENST00000526780.5:c.48_78del	ENSP00000435668.1:p.Asp16GlufsTer?
ENST00000526780.6:c.48_78del	ENSP00000435668.2:p.Asp16GlufsTer?
ENST00000527316.5:c.48_78del	ENSP00000435047.1:p.Asp16GlufsTer11
ENST00000527316.6:c.-198_-168del	ENSP00000435047.2:n.-198_-168del
ENST00000527452.1:c.48_78del	ENSP00000436007.1:p.Asp16GlufsTer?
ENST00000529990.5:c.-51_-21del	ENSP00000435058.1:n.-51_-21del
ENST00000529990.6:c.-165_-135del	ENSP00000435058.2:n.-165_-135del
ENST00000531364.5:c.48_78del	ENSP00000432589.1:p.Asp16GlufsTer?
ENST00000682708.1:c.48_78del	ENSP00000506866.1:p.Asp16GlufsTer?
ENST00000682880.1:c.48_78del	ENSP00000507520.1:p.Asp16GlufsTer?
ENST00000683287.1:c.48_78del	ENSP00000507607.1:p.Asp16GlufsTer?
ENST00000683714.1:c.48_78del	ENSP00000508207.1:p.Asp16GlufsTer?
ENST00000683874.1:n.325_355del
ENST00000685320.1:c.-333-844_-333-814del	ENSP00000509319.1:n.-333-844_-333-814del
ENST00000690257.1:c.48_78del	ENSP00000510750.1:p.Asp16GlufsTer11
XM_011544777.1:c.48_78del	XP_011543079.1:p.Asp16GlufsTer?
XM_011544777.2:c.48_78del	XP_011543079.1:p.Asp16GlufsTer?