Canonical Allele Identifier: CA2574909184

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435518del , CM000673.2:g.71435518del	GRCh38
NC_000011.9:g.71146564del , CM000673.1:g.71146564del	GRCh37
NC_000011.8:g.70824212del	NCBI36
NG_012655.2:g.17916del , LRG_340:g.17916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1287del	ENSP00000435707.3:p.Tyr430ThrfsTer11
ENST00000526780.6:c.1287del	ENSP00000435668.2:p.Tyr430ThrfsTer11
ENST00000527316.6:c.1113del	ENSP00000435047.2:p.Tyr372ThrfsTer11
ENST00000682708.1:c.1338del	ENSP00000506866.1:p.Tyr447ThrfsTer11
ENST00000683287.1:c.1323del	ENSP00000507607.1:p.Tyr442ThrfsTer11
ENST00000683714.1:c.*50del	ENSP00000508207.1:n.*50del
ENST00000684396.1:n.1327del
ENST00000685320.1:c.702del	ENSP00000509319.1:p.Tyr235ThrfsTer11
ENST00000690257.1:c.1191del	ENSP00000510750.1:p.Tyr398ThrfsTer11
ENST00000355527.8:c.1287del MANE Select	ENSP00000347717.4:p.Tyr430ThrfsTer11
ENST00000355527.7:c.1287del	ENSP00000347717.3:p.Tyr430ThrfsTer11
ENST00000407721.6:c.1287del	ENSP00000384739.2:p.Tyr430ThrfsTer11
ENST00000525137.1:c.788del	ENSP00000435956.1:n.788del
ENST00000533800.5:c.537del	ENSP00000435011.1:p.Tyr180ThrfsTer11
ENST00000534795.5:c.319+2296del
NM_001163817.1:c.1287del	NP_001157289.1:p.Tyr430ThrfsTer11
NM_001360.2:c.1287del , LRG_340t1:c.1287del	NP_001351.2:p.Tyr430ThrfsTer11
XM_011544777.1:c.*50del	XP_011543079.1:n.*50del
XM_011544777.2:c.*50del	XP_011543079.1:n.*50del
NM_001163817.2:c.1287del	NP_001157289.1:p.Tyr430ThrfsTer11
NM_001360.3:c.1287del MANE Select	NP_001351.2:p.Tyr430ThrfsTer11