Canonical Allele Identifier: CA1981487020

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435784_71435793delinsACGCCCACGG , CM000673.2:g.71435784_71435793delinsACGCCCACGG	GRCh38
NC_000011.9:g.71146830_71146839delinsACGCCCACGG , CM000673.1:g.71146830_71146839delinsACGCCCACGG	GRCh37
NC_000011.8:g.70824478_70824487delinsACGCCCACGG	NCBI36
NG_012655.2:g.17639_17648delinsCCGTGGGCGT , LRG_340:g.17639_17648delinsCCGTGGGCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1010_1019delinsCCGTGGGCGT	ENSP00000435707.3:p.Ala337=
ENST00000526780.6:c.1010_1019delinsCCGTGGGCGT	ENSP00000435668.2:p.Ala337=
ENST00000527316.6:c.836_845delinsCCGTGGGCGT	ENSP00000435047.2:p.Ala279=
ENST00000682708.1:c.1061_1070delinsCCGTGGGCGT	ENSP00000506866.1:p.Ala354=
ENST00000683287.1:c.1046_1055delinsCCGTGGGCGT	ENSP00000507607.1:p.Ala349=
ENST00000683714.1:c.1018_1027delinsCCGTGGGCGT	ENSP00000508207.1:p.Pro340=
ENST00000684396.1:n.1050_1059delinsCCGTGGGCGT
ENST00000685320.1:c.425_434delinsCCGTGGGCGT	ENSP00000509319.1:p.Ala142=
ENST00000690257.1:c.914_923delinsCCGTGGGCGT	ENSP00000510750.1:p.Ala305=
ENST00000355527.8:c.1010_1019delinsCCGTGGGCGT MANE Select	ENSP00000347717.4:p.Ala337=
ENST00000355527.7:c.1010_1019delinsCCGTGGGCGT	ENSP00000347717.3:p.Ala337=
ENST00000407721.6:c.1010_1019delinsCCGTGGGCGT	ENSP00000384739.2:p.Ala337=
ENST00000525137.1:c.511_520delinsCCGTGGGCGT	ENSP00000435956.1:p.Pro171=
ENST00000533800.5:c.260_269delinsCCGTGGGCGT	ENSP00000435011.1:p.Ala87=
ENST00000534795.5:c.319+2019_319+2028delinsCCGTGGGCGT
NM_001163817.1:c.1010_1019delinsCCGTGGGCGT	NP_001157289.1:p.Ala337=
NM_001360.2:c.1010_1019delinsCCGTGGGCGT , LRG_340t1:c.1010_1019delinsCCGTGGGCGT	NP_001351.2:p.Ala337=
XM_011544777.1:c.1144_1153delinsCCGTGGGCGT	XP_011543079.1:p.Pro382=
XM_011544777.2:c.1144_1153delinsCCGTGGGCGT	XP_011543079.1:p.Pro382=
NM_001163817.2:c.1010_1019delinsCCGTGGGCGT	NP_001157289.1:p.Ala337=
NM_001360.3:c.1010_1019delinsCCGTGGGCGT MANE Select	NP_001351.2:p.Ala337=