Canonical Allele Identifier: CA224324067

Gene: DHCR7

Linked Data

• dbSNP Id: rs1555145580
• gnomAD v3: 11-71435530-CG-C
• gnomAD v4: 11-71435530-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435531del , CM000673.2:g.71435531del	GRCh38
NC_000011.9:g.71146577del , CM000673.1:g.71146577del	GRCh37
NC_000011.8:g.70824225del	NCBI36
NG_012655.2:g.17901del , LRG_340:g.17901del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1272del	ENSP00000435707.3:p.Gly425AlafsTer16
ENST00000526780.6:c.1272del	ENSP00000435668.2:p.Gly425AlafsTer16
ENST00000527316.6:c.1098del	ENSP00000435047.2:p.Gly367AlafsTer16
ENST00000682708.1:c.1323del	ENSP00000506866.1:p.Gly442AlafsTer16
ENST00000683287.1:c.1308del	ENSP00000507607.1:p.Gly437AlafsTer16
ENST00000683714.1:c.*35del	ENSP00000508207.1:n.*35del
ENST00000684396.1:n.1312del
ENST00000685320.1:c.687del	ENSP00000509319.1:p.Gly230AlafsTer16
ENST00000690257.1:c.1176del	ENSP00000510750.1:p.Gly393AlafsTer16
ENST00000355527.8:c.1272del MANE Select	ENSP00000347717.4:p.Gly425AlafsTer16
ENST00000355527.7:c.1272del	ENSP00000347717.3:p.Gly425AlafsTer16
ENST00000407721.6:c.1272del	ENSP00000384739.2:p.Gly425AlafsTer16
ENST00000525137.1:c.773del	ENSP00000435956.1:n.773del
ENST00000533800.5:c.522del	ENSP00000435011.1:p.Gly175AlafsTer16
ENST00000534795.5:c.319+2281del
NM_001163817.1:c.1272del	NP_001157289.1:p.Gly425AlafsTer16
NM_001360.2:c.1272del , LRG_340t1:c.1272del	NP_001351.2:p.Gly425AlafsTer16
XM_011544777.1:c.*35del	XP_011543079.1:n.*35del
XM_011544777.2:c.*35del	XP_011543079.1:n.*35del
NM_001163817.2:c.1272del	NP_001157289.1:p.Gly425AlafsTer16
NM_001360.3:c.1272del MANE Select	NP_001351.2:p.Gly425AlafsTer16