Canonical Allele Identifier: CA939372745

Gene: DHCR7

Linked Data

• dbSNP Id: rs1949287271
• gnomAD v3: 11-71436837-A-AGGG
• gnomAD v4: 11-71436837-A-AGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71436837_71436838insGGG , CM000673.2:g.71436837_71436838insGGG	GRCh38
NC_000011.9:g.71147883_71147884insGGG , CM000673.1:g.71147883_71147884insGGG	GRCh37
NC_000011.8:g.70825531_70825532insGGG	NCBI36
NG_012655.2:g.16594_16595insCCC , LRG_340:g.16594_16595insCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.963+974_963+975insCCC	ENSP00000435707.3:n.963+974_963+975insCCC...
ENST00000526780.6:c.963+974_963+975insCCC	ENSP00000435668.2:n.963+974_963+975insCCC...
ENST00000527316.6:c.789+974_789+975insCCC	ENSP00000435047.2:n.789+974_789+975insCCC...
ENST00000682708.1:c.1014+974_1014+975insCCC	ENSP00000506866.1:n.1014+974_1014+975insC...
ENST00000682880.1:c.*836_*837insCCC	ENSP00000507520.1:n.*836_*837insCCC
ENST00000683287.1:c.999+974_999+975insCCC	ENSP00000507607.1:n.999+974_999+975insCCC...
ENST00000683714.1:c.971+966_971+967insCCC	ENSP00000508207.1:n.971+966_971+967insCCC...
ENST00000684396.1:n.1003+974_1003+975insCCC
ENST00000685320.1:c.378+974_378+975insCCC	ENSP00000509319.1:n.378+974_378+975insCCC...
ENST00000690257.1:c.867+974_867+975insCCC	ENSP00000510750.1:n.867+974_867+975insCCC...
ENST00000355527.8:c.963+974_963+975insCCC MANE Select	ENSP00000347717.4:n.963+974_963+975insCCC...
ENST00000355527.7:c.963+974_963+975insCCC	ENSP00000347717.3:n.963+974_963+975insCCC...
ENST00000407721.6:c.963+974_963+975insCCC	ENSP00000384739.2:n.963+974_963+975insCCC...
ENST00000525137.1:c.331-865_331-864insCCC	ENSP00000435956.1:n.331-865_331-864insCCC...
ENST00000533800.5:c.213+974_213+975insCCC	ENSP00000435011.1:n.213+974_213+975insCCC...
ENST00000534795.5:c.319+974_319+975insCCC
NM_001163817.1:c.963+974_963+975insCCC	NP_001157289.1:n.963+974_963+975insCCC
NM_001360.2:c.963+974_963+975insCCC , LRG_340t1:c.963+974_963+975insCCC	NP_001351.2:n.963+974_963+975insCCC
XM_011544777.1:c.964-865_964-864insCCC	XP_011543079.1:n.964-865_964-864insCCC
XM_011544777.2:c.964-865_964-864insCCC	XP_011543079.1:n.964-865_964-864insCCC
NM_001163817.2:c.963+974_963+975insCCC	NP_001157289.1:n.963+974_963+975insCCC
NM_001360.3:c.963+974_963+975insCCC MANE Select	NP_001351.2:n.963+974_963+975insCCC