Canonical Allele Identifier: CA2976952207

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444024del , CM000673.2:g.71444024del	GRCh38
NC_000011.9:g.71155070del , CM000673.1:g.71155070del	GRCh37
NC_000011.8:g.70832718del	NCBI36
NG_012655.2:g.9410del , LRG_340:g.9410del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.292del	ENSP00000435707.3:p.Gln98SerfsTer29
ENST00000526780.6:c.292del	ENSP00000435668.2:p.Gln98SerfsTer29
ENST00000527316.6:c.118del	ENSP00000435047.2:p.Gln40SerfsTer29
ENST00000682708.1:c.292del	ENSP00000506866.1:p.Gln98SerfsTer29
ENST00000682880.1:c.292del	ENSP00000507520.1:p.Gln98SerfsTer29
ENST00000683287.1:c.292del	ENSP00000507607.1:p.Gln98SerfsTer?
ENST00000683714.1:c.292del	ENSP00000508207.1:p.Gln98SerfsTer29
ENST00000683874.1:n.569del
ENST00000685320.1:c.-294del	ENSP00000509319.1:n.-294del
ENST00000690257.1:c.196del	ENSP00000510750.1:p.Gln66SerfsTer29
ENST00000355527.8:c.292del MANE Select	ENSP00000347717.4:p.Gln98SerfsTer29
ENST00000355527.7:c.292del	ENSP00000347717.3:p.Gln98SerfsTer29
ENST00000407721.6:c.292del	ENSP00000384739.2:p.Gln98SerfsTer29
ENST00000525346.5:c.292del	ENSP00000435707.2:p.Gln98SerfsTer?
ENST00000526780.5:c.292del	ENSP00000435668.1:p.Gln98SerfsTer29
ENST00000527316.5:c.196del	ENSP00000435047.1:p.Gln66SerfsTer29
ENST00000531364.5:c.292del	ENSP00000432589.1:p.Gln98SerfsTer?
NM_001163817.1:c.292del	NP_001157289.1:p.Gln98SerfsTer29
NM_001360.2:c.292del , LRG_340t1:c.292del	NP_001351.2:p.Gln98SerfsTer29
XM_011544777.1:c.292del	XP_011543079.1:p.Gln98SerfsTer29
XM_011544777.2:c.292del	XP_011543079.1:p.Gln98SerfsTer29
NM_001163817.2:c.292del	NP_001157289.1:p.Gln98SerfsTer29
NM_001360.3:c.292del MANE Select	NP_001351.2:p.Gln98SerfsTer29