Canonical Allele Identifier: CA1981490975

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71443933_71443936delinsCCAG , CM000673.2:g.71443933_71443936delinsCCAG	GRCh38
NC_000011.9:g.71154979_71154982delinsCCAG , CM000673.1:g.71154979_71154982delinsCCAG	GRCh37
NC_000011.8:g.70832627_70832630delinsCCAG	NCBI36
NG_012655.2:g.9496_9499delinsCTGG , LRG_340:g.9496_9499delinsCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.321+57_321+60delinsCTGG	ENSP00000435707.3:n.321+57_321+60delinsCTGG
ENST00000526780.6:c.321+57_321+60delinsCTGG	ENSP00000435668.2:n.321+57_321+60delinsCTGG
ENST00000527316.6:c.147+57_147+60delinsCTGG	ENSP00000435047.2:n.147+57_147+60delinsCTGG
ENST00000682708.1:c.321+57_321+60delinsCTGG	ENSP00000506866.1:n.321+57_321+60delinsCTGG
ENST00000682880.1:c.321+57_321+60delinsCTGG	ENSP00000507520.1:n.321+57_321+60delinsCTGG
ENST00000683287.1:c.357+21_357+24delinsCTGG	ENSP00000507607.1:n.357+21_357+24delinsCTGG
ENST00000683714.1:c.321+57_321+60delinsCTGG	ENSP00000508207.1:n.321+57_321+60delinsCTGG
ENST00000683874.1:n.598+57_598+60delinsCTGG
ENST00000685320.1:c.-265+57_-265+60delinsCTGG	ENSP00000509319.1:n.-265+57_-265+60delinsCTGG
ENST00000690257.1:c.225+57_225+60delinsCTGG	ENSP00000510750.1:n.225+57_225+60delinsCTGG
ENST00000355527.8:c.321+57_321+60delinsCTGG MANE Select	ENSP00000347717.4:n.321+57_321+60delinsCTGG
ENST00000355527.7:c.321+57_321+60delinsCTGG	ENSP00000347717.3:n.321+57_321+60delinsCTGG
ENST00000407721.6:c.321+57_321+60delinsCTGG	ENSP00000384739.2:n.321+57_321+60delinsCTGG
ENST00000526780.5:c.321+57_321+60delinsCTGG	ENSP00000435668.1:n.321+57_321+60delinsCTGG
ENST00000527316.5:c.225+57_225+60delinsCTGG	ENSP00000435047.1:n.225+57_225+60delinsCTGG
NM_001163817.1:c.321+57_321+60delinsCTGG	NP_001157289.1:n.321+57_321+60delinsCTGG
NM_001360.2:c.321+57_321+60delinsCTGG , LRG_340t1:c.321+57_321+60delinsCTGG	NP_001351.2:n.321+57_321+60delinsCTGG
XM_011544777.1:c.321+57_321+60delinsCTGG	XP_011543079.1:n.321+57_321+60delinsCTGG
XM_011544777.2:c.321+57_321+60delinsCTGG	XP_011543079.1:n.321+57_321+60delinsCTGG
NM_001163817.2:c.321+57_321+60delinsCTGG	NP_001157289.1:n.321+57_321+60delinsCTGG
NM_001360.3:c.321+57_321+60delinsCTGG MANE Select	NP_001351.2:n.321+57_321+60delinsCTGG