Canonical Allele Identifier: CA2724526911

Gene: DHCR7

Linked Data

• dbSNP Id: rs2135938703

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71434660_71434663del , CM000673.2:g.71434660_71434663del	GRCh38
NC_000011.9:g.71145706_71145709del , CM000673.1:g.71145706_71145709del	GRCh37
NC_000011.8:g.70823354_70823357del	NCBI36
NG_012655.2:g.18772_18775del , LRG_340:g.18772_18775del

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.*715_*718del	ENSP00000435707.3:n.*715_*718del
ENST00000526780.6:c.*715_*718del	ENSP00000435668.2:n.*715_*718del
ENST00000682708.1:c.*715_*718del	ENSP00000506866.1:n.*715_*718del
ENST00000683287.1:c.*715_*718del	ENSP00000507607.1:n.*715_*718del
ENST00000683714.1:c.*906_*909del	ENSP00000508207.1:n.*906_*909del
ENST00000684396.1:n.2183_2186del
ENST00000685320.1:c.*715_*718del	ENSP00000509319.1:n.*715_*718del
ENST00000690257.1:c.*715_*718del	ENSP00000510750.1:n.*715_*718del
ENST00000355527.8:c.*715_*718del MANE Select	ENSP00000347717.4:n.*715_*718del
ENST00000355527.7:c.*715_*718del	ENSP00000347717.3:n.*715_*718del
ENST00000407721.6:c.*715_*718del	ENSP00000384739.2:n.*715_*718del
ENST00000534795.5:c.319+3152_319+3155del
NM_001163817.1:c.*715_*718del	NP_001157289.1:n.*715_*718del
NM_001360.2:c.*715_*718del , LRG_340t1:c.*715_*718del	NP_001351.2:n.*715_*718del
XM_011544777.1:c.*906_*909del	XP_011543079.1:n.*906_*909del
XM_011544777.2:c.*906_*909del	XP_011543079.1:n.*906_*909del
NM_001163817.2:c.*715_*718del	NP_001157289.1:n.*715_*718del
NM_001360.3:c.*715_*718del MANE Select	NP_001351.2:n.*715_*718del