Canonical Allele Identifier: CA654182190

Gene: DHCR7

Linked Data

• COSMIC: COSN19479930

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435362_71435363insG , CM000673.2:g.71435362_71435363insG	GRCh38
NC_000011.9:g.71146408_71146409insG , CM000673.1:g.71146408_71146409insG	GRCh37
NC_000011.8:g.70824056_70824057insG	NCBI36
NG_012655.2:g.18069_18070insC , LRG_340:g.18069_18070insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.*12_*13insC	ENSP00000435707.3:n.*12_*13insC
ENST00000526780.6:c.*12_*13insC	ENSP00000435668.2:n.*12_*13insC
ENST00000682708.1:c.*12_*13insC	ENSP00000506866.1:n.*12_*13insC
ENST00000683287.1:c.*12_*13insC	ENSP00000507607.1:n.*12_*13insC
ENST00000683714.1:c.*203_*204insC	ENSP00000508207.1:n.*203_*204insC
ENST00000684396.1:n.1480_1481insC
ENST00000685320.1:c.*12_*13insC	ENSP00000509319.1:n.*12_*13insC
ENST00000690257.1:c.*12_*13insC	ENSP00000510750.1:n.*12_*13insC
ENST00000355527.8:c.*12_*13insC MANE Select	ENSP00000347717.4:n.*12_*13insC
ENST00000355527.7:c.*12_*13insC	ENSP00000347717.3:n.*12_*13insC
ENST00000407721.6:c.*12_*13insC	ENSP00000384739.2:n.*12_*13insC
ENST00000525137.1:c.941_942insC	ENSP00000435956.1:n.941_942insC
ENST00000533800.5:c.611+79_611+80insC	ENSP00000435011.1:n.611+79_611+80insC
ENST00000534795.5:c.319+2449_319+2450insC
NM_001163817.1:c.*12_*13insC	NP_001157289.1:n.*12_*13insC
NM_001360.2:c.*12_*13insC , LRG_340t1:c.*12_*13insC	NP_001351.2:n.*12_*13insC
XM_011544777.1:c.*203_*204insC	XP_011543079.1:n.*203_*204insC
XM_011544777.2:c.*203_*204insC	XP_011543079.1:n.*203_*204insC
NM_001163817.2:c.*12_*13insC	NP_001157289.1:n.*12_*13insC
NM_001360.3:c.*12_*13insC MANE Select	NP_001351.2:n.*12_*13insC