Canonical Allele Identifier: CA1981487516

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71436812_71436814delinsCTA , CM000673.2:g.71436812_71436814delinsCTA	GRCh38
NC_000011.9:g.71147858_71147860delinsCTA , CM000673.1:g.71147858_71147860delinsCTA	GRCh37
NC_000011.8:g.70825506_70825508delinsCTA	NCBI36
NG_012655.2:g.16618_16620delinsTAG , LRG_340:g.16618_16620delinsTAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.964-975_964-973delinsTAG	ENSP00000435707.3:n.964-975_964-973delinsTAG
ENST00000526780.6:c.964-975_964-973delinsTAG	ENSP00000435668.2:n.964-975_964-973delinsTAG
ENST00000527316.6:c.790-975_790-973delinsTAG	ENSP00000435047.2:n.790-975_790-973delinsTAG
ENST00000682708.1:c.1015-975_1015-973delinsTAG	ENSP00000506866.1:n.1015-975_1015-973delinsTAG
ENST00000682880.1:c.*860_*862delinsTAG	ENSP00000507520.1:n.*860_*862delinsTAG
ENST00000683287.1:c.1000-975_1000-973delinsTAG	ENSP00000507607.1:n.1000-975_1000-973delinsTAG
ENST00000683714.1:c.972-975_972-973delinsTAG	ENSP00000508207.1:n.972-975_972-973delinsTAG
ENST00000684396.1:n.1004-975_1004-973delinsTAG
ENST00000685320.1:c.379-975_379-973delinsTAG	ENSP00000509319.1:n.379-975_379-973delinsTAG
ENST00000690257.1:c.868-975_868-973delinsTAG	ENSP00000510750.1:n.868-975_868-973delinsTAG
ENST00000355527.8:c.964-975_964-973delinsTAG MANE Select	ENSP00000347717.4:n.964-975_964-973delinsTAG
ENST00000355527.7:c.964-975_964-973delinsTAG	ENSP00000347717.3:n.964-975_964-973delinsTAG
ENST00000407721.6:c.964-975_964-973delinsTAG	ENSP00000384739.2:n.964-975_964-973delinsTAG
ENST00000525137.1:c.331-841_331-839delinsTAG	ENSP00000435956.1:n.331-841_331-839delinsTAG
ENST00000533800.5:c.214-975_214-973delinsTAG	ENSP00000435011.1:n.214-975_214-973delinsTAG
ENST00000534795.5:c.319+998_319+1000delinsTAG
NM_001163817.1:c.964-975_964-973delinsTAG	NP_001157289.1:n.964-975_964-973delinsTAG
NM_001360.2:c.964-975_964-973delinsTAG , LRG_340t1:c.964-975_964-973delinsTAG	NP_001351.2:n.964-975_964-973delinsTAG
XM_011544777.1:c.964-841_964-839delinsTAG	XP_011543079.1:n.964-841_964-839delinsTAG
XM_011544777.2:c.964-841_964-839delinsTAG	XP_011543079.1:n.964-841_964-839delinsTAG
NM_001163817.2:c.964-975_964-973delinsTAG	NP_001157289.1:n.964-975_964-973delinsTAG
NM_001360.3:c.964-975_964-973delinsTAG MANE Select	NP_001351.2:n.964-975_964-973delinsTAG