Canonical Allele Identifier: CA2724526911
Gene: DHCR7 HGNC NCBI

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