Canonical Allele Identifier: CA912973039

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71148885_71148887del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437839_71437841del , CM000673.2:g.71437839_71437841del	GRCh38
NC_000011.9:g.71148885_71148887del , CM000673.1:g.71148885_71148887del	GRCh37
NC_000011.8:g.70826533_70826535del	NCBI36
NG_012655.2:g.15591_15593del , LRG_340:g.15591_15593del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.934_936del	ENSP00000435707.3:p.Val312del
ENST00000526780.6:c.934_936del	ENSP00000435668.2:p.Val312del
ENST00000527316.6:c.760_762del	ENSP00000435047.2:p.Val254del
ENST00000682708.1:c.985_987del	ENSP00000506866.1:p.Val329del
ENST00000682880.1:c.934_936del	ENSP00000507520.1:p.Val312del
ENST00000683287.1:c.970_972del	ENSP00000507607.1:p.Val324del
ENST00000683714.1:c.934_936del	ENSP00000508207.1:p.Val312del
ENST00000684396.1:n.974_976del
ENST00000685320.1:c.349_351del	ENSP00000509319.1:p.Val117del
ENST00000690257.1:c.838_840del	ENSP00000510750.1:p.Val280del
ENST00000355527.8:c.934_936del MANE Select	ENSP00000347717.4:p.Val312del
ENST00000355527.7:c.934_936del	ENSP00000347717.3:p.Val312del
ENST00000407721.6:c.934_936del	ENSP00000384739.2:p.Val312del
ENST00000525137.1:c.301_303del	ENSP00000435956.1:p.Val101del
ENST00000533800.5:c.184_186del	ENSP00000435011.1:p.Val62del
ENST00000534795.5:c.290_292del
NM_001163817.1:c.934_936del	NP_001157289.1:p.Val312del
NM_001360.2:c.934_936del , LRG_340t1:c.934_936del	NP_001351.2:p.Val312del
XM_011544777.1:c.934_936del	XP_011543079.1:p.Val312del
XM_011544777.2:c.934_936del	XP_011543079.1:p.Val312del
NM_001163817.2:c.934_936del	NP_001157289.1:p.Val312del
NM_001360.3:c.934_936del MANE Select	NP_001351.2:p.Val312del