Canonical Allele Identifier: CA2574909378

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444796_71444797del , CM000673.2:g.71444796_71444797del	GRCh38
NC_000011.9:g.71155842_71155843del , CM000673.1:g.71155842_71155843del	GRCh37
NC_000011.8:g.70833490_70833491del	NCBI36
NG_012655.2:g.8635_8636del , LRG_340:g.8635_8636del

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.98+58_98+59del	ENSP00000435707.3:n.98+58_98+59del
ENST00000526780.6:c.98+58_98+59del	ENSP00000435668.2:n.98+58_98+59del
ENST00000527316.6:c.-148+58_-148+59del	ENSP00000435047.2:n.-148+58_-148+59del
ENST00000529990.6:c.-115+58_-115+59del	ENSP00000435058.2:n.-115+58_-115+59del
ENST00000682708.1:c.98+58_98+59del	ENSP00000506866.1:n.98+58_98+59del
ENST00000682880.1:c.98+58_98+59del	ENSP00000507520.1:n.98+58_98+59del
ENST00000683287.1:c.98+58_98+59del	ENSP00000507607.1:n.98+58_98+59del
ENST00000683714.1:c.98+58_98+59del	ENSP00000508207.1:n.98+58_98+59del
ENST00000683874.1:n.375+58_375+59del
ENST00000685320.1:c.-333-736_-333-735del	ENSP00000509319.1:n.-333-736_-333-735del
ENST00000690257.1:c.98+58_98+59del	ENSP00000510750.1:n.98+58_98+59del
ENST00000355527.8:c.98+58_98+59del MANE Select	ENSP00000347717.4:n.98+58_98+59del
ENST00000355527.7:c.98+58_98+59del	ENSP00000347717.3:n.98+58_98+59del
ENST00000407721.6:c.98+58_98+59del	ENSP00000384739.2:n.98+58_98+59del
ENST00000525346.5:c.98+58_98+59del	ENSP00000435707.2:n.98+58_98+59del
ENST00000526780.5:c.98+58_98+59del	ENSP00000435668.1:n.98+58_98+59del
ENST00000527316.5:c.98+58_98+59del	ENSP00000435047.1:n.98+58_98+59del
ENST00000527452.1:c.98+58_98+59del	ENSP00000436007.1:n.98+58_98+59del
ENST00000529990.5:c.-1+58_-1+59del	ENSP00000435058.1:n.-1+58_-1+59del
ENST00000531364.5:c.98+58_98+59del	ENSP00000432589.1:n.98+58_98+59del
NM_001163817.1:c.98+58_98+59del	NP_001157289.1:n.98+58_98+59del
NM_001360.2:c.98+58_98+59del , LRG_340t1:c.98+58_98+59del	NP_001351.2:n.98+58_98+59del
XM_011544777.1:c.98+58_98+59del	XP_011543079.1:n.98+58_98+59del
XM_011544777.2:c.98+58_98+59del	XP_011543079.1:n.98+58_98+59del
NM_001163817.2:c.98+58_98+59del	NP_001157289.1:n.98+58_98+59del
NM_001360.3:c.98+58_98+59del MANE Select	NP_001351.2:n.98+58_98+59del