Canonical Allele Identifier: CA1981486558

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71434951_71434952delinsCG , CM000673.2:g.71434951_71434952delinsCG	GRCh38
NC_000011.9:g.71145997_71145998delinsCG , CM000673.1:g.71145997_71145998delinsCG	GRCh37
NC_000011.8:g.70823645_70823646delinsCG	NCBI36
NG_012655.2:g.18480_18481delinsCG , LRG_340:g.18480_18481delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.*423_*424delinsCG	ENSP00000435707.3:n.*423_*424delinsCG
ENST00000526780.6:c.*423_*424delinsCG	ENSP00000435668.2:n.*423_*424delinsCG
ENST00000682708.1:c.*423_*424delinsCG	ENSP00000506866.1:n.*423_*424delinsCG
ENST00000683287.1:c.*423_*424delinsCG	ENSP00000507607.1:n.*423_*424delinsCG
ENST00000683714.1:c.*614_*615delinsCG	ENSP00000508207.1:n.*614_*615delinsCG
ENST00000684396.1:n.1891_1892delinsCG
ENST00000685320.1:c.*423_*424delinsCG	ENSP00000509319.1:n.*423_*424delinsCG
ENST00000690257.1:c.*423_*424delinsCG	ENSP00000510750.1:n.*423_*424delinsCG
ENST00000355527.8:c.*423_*424delinsCG MANE Select	ENSP00000347717.4:n.*423_*424delinsCG
ENST00000355527.7:c.*423_*424delinsCG	ENSP00000347717.3:n.*423_*424delinsCG
ENST00000407721.6:c.*423_*424delinsCG	ENSP00000384739.2:n.*423_*424delinsCG
ENST00000534795.5:c.319+2860_319+2861delinsCG
NM_001163817.1:c.*423_*424delinsCG	NP_001157289.1:n.*423_*424delinsCG
NM_001360.2:c.*423_*424delinsCG , LRG_340t1:c.*423_*424delinsCG	NP_001351.2:n.*423_*424delinsCG
XM_011544777.1:c.*614_*615delinsCG	XP_011543079.1:n.*614_*615delinsCG
XM_011544777.2:c.*614_*615delinsCG	XP_011543079.1:n.*614_*615delinsCG
NM_001163817.2:c.*423_*424delinsCG	NP_001157289.1:n.*423_*424delinsCG
NM_001360.3:c.*423_*424delinsCG MANE Select	NP_001351.2:n.*423_*424delinsCG