Canonical Allele Identifier: CA2976952227

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444046dup , CM000673.2:g.71444046dup	GRCh38
NC_000011.9:g.71155092dup , CM000673.1:g.71155092dup	GRCh37
NC_000011.8:g.70832740dup	NCBI36
NG_012655.2:g.9387dup , LRG_340:g.9387dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.269dup	ENSP00000435707.3:p.Pro91ThrfsTer26
ENST00000526780.6:c.269dup	ENSP00000435668.2:p.Pro91ThrfsTer26
ENST00000527316.6:c.95dup	ENSP00000435047.2:p.Pro33ThrfsTer26
ENST00000529990.6:c.95dup	ENSP00000435058.2:p.Pro33ThrfsTer?
ENST00000682708.1:c.269dup	ENSP00000506866.1:p.Pro91ThrfsTer26
ENST00000682880.1:c.269dup	ENSP00000507520.1:p.Pro91ThrfsTer26
ENST00000683287.1:c.269dup	ENSP00000507607.1:p.Pro91ThrfsTer?
ENST00000683714.1:c.269dup	ENSP00000508207.1:p.Pro91ThrfsTer26
ENST00000683874.1:n.546dup
ENST00000685320.1:c.-317dup	ENSP00000509319.1:n.-317dup
ENST00000690257.1:c.173dup	ENSP00000510750.1:p.Pro59ThrfsTer26
ENST00000355527.8:c.269dup MANE Select	ENSP00000347717.4:p.Pro91ThrfsTer26
ENST00000355527.7:c.269dup	ENSP00000347717.3:p.Pro91ThrfsTer26
ENST00000407721.6:c.269dup	ENSP00000384739.2:p.Pro91ThrfsTer26
ENST00000525346.5:c.269dup	ENSP00000435707.2:p.Pro91ThrfsTer?
ENST00000526780.5:c.269dup	ENSP00000435668.1:p.Pro91ThrfsTer26
ENST00000527316.5:c.173dup	ENSP00000435047.1:p.Pro59ThrfsTer26
ENST00000527452.1:c.269dup	ENSP00000436007.1:p.Pro91ThrfsTer?
ENST00000529990.5:c.209dup	ENSP00000435058.1:p.Pro71ThrfsTer?
ENST00000531364.5:c.269dup	ENSP00000432589.1:p.Pro91ThrfsTer?
NM_001163817.1:c.269dup	NP_001157289.1:p.Pro91ThrfsTer26
NM_001360.2:c.269dup , LRG_340t1:c.269dup	NP_001351.2:p.Pro91ThrfsTer26
XM_011544777.1:c.269dup	XP_011543079.1:p.Pro91ThrfsTer26
XM_011544777.2:c.269dup	XP_011543079.1:p.Pro91ThrfsTer26
NM_001163817.2:c.269dup	NP_001157289.1:p.Pro91ThrfsTer26
NM_001360.3:c.269dup MANE Select	NP_001351.2:p.Pro91ThrfsTer26