Canonical Allele Identifier: CA2614857253

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71444747-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444753dup , CM000673.2:g.71444753dup	GRCh38
NC_000011.9:g.71155799dup , CM000673.1:g.71155799dup	GRCh37
NC_000011.8:g.70833447dup	NCBI36
NG_012655.2:g.8684dup , LRG_340:g.8684dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.98+107dup	ENSP00000435707.3:n.98+107dup
ENST00000526780.6:c.98+107dup	ENSP00000435668.2:n.98+107dup
ENST00000527316.6:c.-148+107dup	ENSP00000435047.2:n.-148+107dup
ENST00000529990.6:c.-115+107dup	ENSP00000435058.2:n.-115+107dup
ENST00000682708.1:c.98+107dup	ENSP00000506866.1:n.98+107dup
ENST00000682880.1:c.98+107dup	ENSP00000507520.1:n.98+107dup
ENST00000683287.1:c.98+107dup	ENSP00000507607.1:n.98+107dup
ENST00000683714.1:c.98+107dup	ENSP00000508207.1:n.98+107dup
ENST00000683874.1:n.375+107dup
ENST00000685320.1:c.-333-687dup	ENSP00000509319.1:n.-333-687dup
ENST00000690257.1:c.98+107dup	ENSP00000510750.1:n.98+107dup
ENST00000355527.8:c.98+107dup MANE Select	ENSP00000347717.4:n.98+107dup
ENST00000355527.7:c.98+107dup	ENSP00000347717.3:n.98+107dup
ENST00000407721.6:c.98+107dup	ENSP00000384739.2:n.98+107dup
ENST00000525346.5:c.98+107dup	ENSP00000435707.2:n.98+107dup
ENST00000526780.5:c.98+107dup	ENSP00000435668.1:n.98+107dup
ENST00000527316.5:c.98+107dup	ENSP00000435047.1:n.98+107dup
ENST00000527452.1:c.98+107dup	ENSP00000436007.1:n.98+107dup
ENST00000529990.5:c.-1+107dup	ENSP00000435058.1:n.-1+107dup
ENST00000531364.5:c.98+107dup	ENSP00000432589.1:n.98+107dup
NM_001163817.1:c.98+107dup	NP_001157289.1:n.98+107dup
NM_001360.2:c.98+107dup , LRG_340t1:c.98+107dup	NP_001351.2:n.98+107dup
XM_011544777.1:c.98+107dup	XP_011543079.1:n.98+107dup
XM_011544777.2:c.98+107dup	XP_011543079.1:n.98+107dup
NM_001163817.2:c.98+107dup	NP_001157289.1:n.98+107dup
NM_001360.3:c.98+107dup MANE Select	NP_001351.2:n.98+107dup