Canonical Allele Identifier: CA2574909204

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71441444_71441445del , CM000673.2:g.71441444_71441445del	GRCh38
NC_000011.9:g.71152490_71152491del , CM000673.1:g.71152490_71152491del	GRCh37
NC_000011.8:g.70830138_70830139del	NCBI36
NG_012655.2:g.11987_11988del , LRG_340:g.11987_11988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.413-5_413-4del	ENSP00000435707.3:n.413-5_413-4del
ENST00000526780.6:c.413-5_413-4del	ENSP00000435668.2:n.413-5_413-4del
ENST00000527316.6:c.239-5_239-4del	ENSP00000435047.2:n.239-5_239-4del
ENST00000682708.1:c.413-5_413-4del	ENSP00000506866.1:n.413-5_413-4del
ENST00000682880.1:c.413-5_413-4del	ENSP00000507520.1:n.413-5_413-4del
ENST00000683287.1:c.449-5_449-4del	ENSP00000507607.1:n.449-5_449-4del
ENST00000683714.1:c.413-5_413-4del	ENSP00000508207.1:n.413-5_413-4del
ENST00000683874.1:n.690-5_690-4del
ENST00000685320.1:c.-173-5_-173-4del	ENSP00000509319.1:n.-173-5_-173-4del
ENST00000690257.1:c.317-5_317-4del	ENSP00000510750.1:n.317-5_317-4del
ENST00000355527.8:c.413-5_413-4del MANE Select	ENSP00000347717.4:n.413-5_413-4del
ENST00000355527.7:c.413-5_413-4del	ENSP00000347717.3:n.413-5_413-4del
ENST00000407721.6:c.413-5_413-4del	ENSP00000384739.2:n.413-5_413-4del
ENST00000526780.5:c.413-5_413-4del	ENSP00000435668.1:n.413-5_413-4del
ENST00000527316.5:c.317-5_317-4del	ENSP00000435047.1:n.317-5_317-4del
NM_001163817.1:c.413-5_413-4del	NP_001157289.1:n.413-5_413-4del
NM_001360.2:c.413-5_413-4del , LRG_340t1:c.413-5_413-4del	NP_001351.2:n.413-5_413-4del
XM_011544777.1:c.413-5_413-4del	XP_011543079.1:n.413-5_413-4del
XM_011544777.2:c.413-5_413-4del	XP_011543079.1:n.413-5_413-4del
NM_001163817.2:c.413-5_413-4del	NP_001157289.1:n.413-5_413-4del
NM_001360.3:c.413-5_413-4del MANE Select	NP_001351.2:n.413-5_413-4del