Canonical Allele Identifier: CA2792628503

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444731_71444732insAAAAAA , CM000673.2:g.71444731_71444732insAAAAAA	GRCh38
NC_000011.9:g.71155777_71155778insAAAAAA , CM000673.1:g.71155777_71155778insAAAAAA	GRCh37
NC_000011.8:g.70833425_70833426insAAAAAA	NCBI36
NG_012655.2:g.8701_8702insTTTTTT , LRG_340:g.8701_8702insTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.98+124_98+125insTTTTTT	ENSP00000435707.3:n.98+124_98+125insTTTTTT
ENST00000526780.6:c.98+124_98+125insTTTTTT	ENSP00000435668.2:n.98+124_98+125insTTTTTT
ENST00000527316.6:c.-148+124_-148+125insTTTTTT	ENSP00000435047.2:n.-148+124_-148+125insTTTTTT
ENST00000529990.6:c.-115+124_-115+125insTTTTTT	ENSP00000435058.2:n.-115+124_-115+125insTTTTTT
ENST00000682708.1:c.98+124_98+125insTTTTTT	ENSP00000506866.1:n.98+124_98+125insTTTTTT
ENST00000682880.1:c.98+124_98+125insTTTTTT	ENSP00000507520.1:n.98+124_98+125insTTTTTT
ENST00000683287.1:c.98+124_98+125insTTTTTT	ENSP00000507607.1:n.98+124_98+125insTTTTTT
ENST00000683714.1:c.98+124_98+125insTTTTTT	ENSP00000508207.1:n.98+124_98+125insTTTTTT
ENST00000683874.1:n.375+124_375+125insTTTTTT
ENST00000685320.1:c.-333-670_-333-669insTTTTTT	ENSP00000509319.1:n.-333-670_-333-669insTTTTTT
ENST00000690257.1:c.98+124_98+125insTTTTTT	ENSP00000510750.1:n.98+124_98+125insTTTTTT
ENST00000355527.8:c.98+124_98+125insTTTTTT MANE Select	ENSP00000347717.4:n.98+124_98+125insTTTTTT
ENST00000355527.7:c.98+124_98+125insTTTTTT	ENSP00000347717.3:n.98+124_98+125insTTTTTT
ENST00000407721.6:c.98+124_98+125insTTTTTT	ENSP00000384739.2:n.98+124_98+125insTTTTTT
ENST00000525346.5:c.98+124_98+125insTTTTTT	ENSP00000435707.2:n.98+124_98+125insTTTTTT
ENST00000526780.5:c.98+124_98+125insTTTTTT	ENSP00000435668.1:n.98+124_98+125insTTTTTT
ENST00000527316.5:c.98+124_98+125insTTTTTT	ENSP00000435047.1:n.98+124_98+125insTTTTTT
ENST00000527452.1:c.98+124_98+125insTTTTTT	ENSP00000436007.1:n.98+124_98+125insTTTTTT
ENST00000529990.5:c.-1+124_-1+125insTTTTTT	ENSP00000435058.1:n.-1+124_-1+125insTTTTTT
ENST00000531364.5:c.98+124_98+125insTTTTTT	ENSP00000432589.1:n.98+124_98+125insTTTTTT
NM_001163817.1:c.98+124_98+125insTTTTTT	NP_001157289.1:n.98+124_98+125insTTTTTT
NM_001360.2:c.98+124_98+125insTTTTTT , LRG_340t1:c.98+124_98+125insTTTTTT	NP_001351.2:n.98+124_98+125insTTTTTT
XM_011544777.1:c.98+124_98+125insTTTTTT	XP_011543079.1:n.98+124_98+125insTTTTTT
XM_011544777.2:c.98+124_98+125insTTTTTT	XP_011543079.1:n.98+124_98+125insTTTTTT
NM_001163817.2:c.98+124_98+125insTTTTTT	NP_001157289.1:n.98+124_98+125insTTTTTT
NM_001360.3:c.98+124_98+125insTTTTTT MANE Select	NP_001351.2:n.98+124_98+125insTTTTTT