Canonical Allele Identifier: CA1981486848

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435495_71435501delinsCATGTAG , CM000673.2:g.71435495_71435501delinsCATGTAG	GRCh38
NC_000011.9:g.71146541_71146547delinsCATGTAG , CM000673.1:g.71146541_71146547delinsCATGTAG	GRCh37
NC_000011.8:g.70824189_70824195delinsCATGTAG	NCBI36
NG_012655.2:g.17931_17937delinsCTACATG , LRG_340:g.17931_17937delinsCTACATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1302_1308delinsCTACATG	ENSP00000435707.3:p.Ile434=
ENST00000526780.6:c.1302_1308delinsCTACATG	ENSP00000435668.2:p.Ile434=
ENST00000527316.6:c.1128_1134delinsCTACATG	ENSP00000435047.2:p.Ile376=
ENST00000682708.1:c.1353_1359delinsCTACATG	ENSP00000506866.1:p.Ile451=
ENST00000683287.1:c.1338_1344delinsCTACATG	ENSP00000507607.1:p.Ile446=
ENST00000683714.1:c.*65_*71delinsCTACATG	ENSP00000508207.1:n.*65_*71delinsCTACATG
ENST00000684396.1:n.1342_1348delinsCTACATG
ENST00000685320.1:c.717_723delinsCTACATG	ENSP00000509319.1:p.Ile239=
ENST00000690257.1:c.1206_1212delinsCTACATG	ENSP00000510750.1:p.Ile402=
ENST00000355527.8:c.1302_1308delinsCTACATG MANE Select	ENSP00000347717.4:p.Ile434=
ENST00000355527.7:c.1302_1308delinsCTACATG	ENSP00000347717.3:p.Ile434=
ENST00000407721.6:c.1302_1308delinsCTACATG	ENSP00000384739.2:p.Ile434=
ENST00000525137.1:c.803_809delinsCTACATG	ENSP00000435956.1:n.803_809delinsCTACATG
ENST00000533800.5:c.552_558delinsCTACATG	ENSP00000435011.1:p.Ile184=
ENST00000534795.5:c.319+2311_319+2317delinsCTACATG
NM_001163817.1:c.1302_1308delinsCTACATG	NP_001157289.1:p.Ile434=
NM_001360.2:c.1302_1308delinsCTACATG , LRG_340t1:c.1302_1308delinsCTACATG	NP_001351.2:p.Ile434=
XM_011544777.1:c.*65_*71delinsCTACATG	XP_011543079.1:n.*65_*71delinsCTACATG
XM_011544777.2:c.*65_*71delinsCTACATG	XP_011543079.1:n.*65_*71delinsCTACATG
NM_001163817.2:c.1302_1308delinsCTACATG	NP_001157289.1:p.Ile434=
NM_001360.3:c.1302_1308delinsCTACATG MANE Select	NP_001351.2:p.Ile434=