Canonical Allele Identifier: CA658823155

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 554204
• ClinVar RCV Id: RCV000669792
• dbSNP Id: rs1469918162
• MyVariant Identifiers: chr11:g.71148886_71148887del (hg19) ; chr11:g.71437840_71437841del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437843_71437844del , CM000673.2:g.71437843_71437844del	GRCh38
NC_000011.9:g.71148889_71148890del , CM000673.1:g.71148889_71148890del	GRCh37
NC_000011.8:g.70826537_70826538del	NCBI36
NG_012655.2:g.15591_15592del , LRG_340:g.15591_15592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.934_935del	ENSP00000435707.3:p.Val312LeufsTer?
ENST00000526780.6:c.934_935del	ENSP00000435668.2:p.Val312LeufsTer?
ENST00000527316.6:c.760_761del	ENSP00000435047.2:p.Val254LeufsTer?
ENST00000682708.1:c.985_986del	ENSP00000506866.1:p.Val329LeufsTer?
ENST00000682880.1:c.934_935del	ENSP00000507520.1:p.Val312LeufsTer27
ENST00000683287.1:c.970_971del	ENSP00000507607.1:p.Val324LeufsTer?
ENST00000683714.1:c.934_935del	ENSP00000508207.1:p.Val312LeufsTer?
ENST00000684396.1:n.974_975del
ENST00000685320.1:c.349_350del	ENSP00000509319.1:p.Val117LeufsTer?
ENST00000690257.1:c.838_839del	ENSP00000510750.1:p.Val280LeufsTer?
ENST00000355527.8:c.934_935del MANE Select	ENSP00000347717.4:p.Val312LeufsTer?
ENST00000355527.7:c.934_935del	ENSP00000347717.3:p.Val312LeufsTer?
ENST00000407721.6:c.934_935del	ENSP00000384739.2:p.Val312LeufsTer?
ENST00000525137.1:c.301_302del	ENSP00000435956.1:p.Val101LeufsTer?
ENST00000533800.5:c.184_185del	ENSP00000435011.1:p.Val62LeufsTer?
ENST00000534795.5:c.290_291del
NM_001163817.1:c.934_935del	NP_001157289.1:p.Val312LeufsTer?
NM_001360.2:c.934_935del , LRG_340t1:c.934_935del	NP_001351.2:p.Val312LeufsTer?
XM_011544777.1:c.934_935del	XP_011543079.1:p.Val312LeufsTer?
XM_011544777.2:c.934_935del	XP_011543079.1:p.Val312LeufsTer?
NM_001163817.2:c.934_935del	NP_001157289.1:p.Val312LeufsTer?
NM_001360.3:c.934_935del MANE Select	NP_001351.2:p.Val312LeufsTer?