Canonical Allele Identifier: CA2614857284

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435756-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435757dup , CM000673.2:g.71435757dup	GRCh38
NC_000011.9:g.71146803dup , CM000673.1:g.71146803dup	GRCh37
NC_000011.8:g.70824451dup	NCBI36
NG_012655.2:g.17675dup , LRG_340:g.17675dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1046dup	ENSP00000435707.3:p.Tyr349Ter
ENST00000526780.6:c.1046dup	ENSP00000435668.2:p.Tyr349Ter
ENST00000527316.6:c.872dup	ENSP00000435047.2:p.Tyr291Ter
ENST00000682708.1:c.1097dup	ENSP00000506866.1:p.Tyr366Ter
ENST00000683287.1:c.1082dup	ENSP00000507607.1:p.Tyr361Ter
ENST00000683714.1:c.1054dup	ENSP00000508207.1:p.Thr352AsnfsTer?
ENST00000684396.1:n.1086dup
ENST00000685320.1:c.461dup	ENSP00000509319.1:p.Tyr154Ter
ENST00000690257.1:c.950dup	ENSP00000510750.1:p.Tyr317Ter
ENST00000355527.8:c.1046dup MANE Select	ENSP00000347717.4:p.Tyr349Ter
ENST00000355527.7:c.1046dup	ENSP00000347717.3:p.Tyr349Ter
ENST00000407721.6:c.1046dup	ENSP00000384739.2:p.Tyr349Ter
ENST00000525137.1:c.547dup	ENSP00000435956.1:p.Thr183AsnfsTer?
ENST00000533800.5:c.296dup	ENSP00000435011.1:p.Tyr99Ter
ENST00000534795.5:c.319+2055dup
NM_001163817.1:c.1046dup	NP_001157289.1:p.Tyr349Ter
NM_001360.2:c.1046dup , LRG_340t1:c.1046dup	NP_001351.2:p.Tyr349Ter
XM_011544777.1:c.1180dup	XP_011543079.1:p.Thr394AsnfsTer?
XM_011544777.2:c.1180dup	XP_011543079.1:p.Thr394AsnfsTer?
NM_001163817.2:c.1046dup	NP_001157289.1:p.Tyr349Ter
NM_001360.3:c.1046dup MANE Select	NP_001351.2:p.Tyr349Ter