Canonical Allele Identifier: CA2580084833

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2108087
• ClinVar RCV Id: RCV003033989

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435791del , CM000673.2:g.71435791del	GRCh38
NC_000011.9:g.71146837del , CM000673.1:g.71146837del	GRCh37
NC_000011.8:g.70824485del	NCBI36
NG_012655.2:g.17641del , LRG_340:g.17641del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1012del	ENSP00000435707.3:p.Val338TrpfsTer?
ENST00000526780.6:c.1012del	ENSP00000435668.2:p.Val338TrpfsTer?
ENST00000527316.6:c.838del	ENSP00000435047.2:p.Val280TrpfsTer?
ENST00000682708.1:c.1063del	ENSP00000506866.1:p.Val355TrpfsTer?
ENST00000683287.1:c.1048del	ENSP00000507607.1:p.Val350TrpfsTer?
ENST00000683714.1:c.1020del	ENSP00000508207.1:p.Trp341GlyfsTer?
ENST00000684396.1:n.1052del
ENST00000685320.1:c.427del	ENSP00000509319.1:p.Val143TrpfsTer?
ENST00000690257.1:c.916del	ENSP00000510750.1:p.Val306TrpfsTer?
ENST00000355527.8:c.1012del MANE Select	ENSP00000347717.4:p.Val338TrpfsTer?
ENST00000355527.7:c.1012del	ENSP00000347717.3:p.Val338TrpfsTer?
ENST00000407721.6:c.1012del	ENSP00000384739.2:p.Val338TrpfsTer?
ENST00000525137.1:c.513del	ENSP00000435956.1:p.Trp172GlyfsTer?
ENST00000533800.5:c.262del	ENSP00000435011.1:p.Val88TrpfsTer?
ENST00000534795.5:c.319+2021del
NM_001163817.1:c.1012del	NP_001157289.1:p.Val338TrpfsTer?
NM_001360.2:c.1012del , LRG_340t1:c.1012del	NP_001351.2:p.Val338TrpfsTer?
XM_011544777.1:c.1146del	XP_011543079.1:p.Trp383GlyfsTer?
XM_011544777.2:c.1146del	XP_011543079.1:p.Trp383GlyfsTer?
NM_001163817.2:c.1012del	NP_001157289.1:p.Val338TrpfsTer?
NM_001360.3:c.1012del MANE Select	NP_001351.2:p.Val338TrpfsTer?