Canonical Allele Identifier: CA915948246

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 706368
• ClinVar RCV Id: RCV000876959

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444106_71444107delinsTG , CM000673.2:g.71444106_71444107delinsTG	GRCh38
NC_000011.9:g.71155152_71155153delinsTG , CM000673.1:g.71155152_71155153delinsTG	GRCh37
NC_000011.8:g.70832800_70832801delinsTG	NCBI36
NG_012655.2:g.9325_9326delinsCA , LRG_340:g.9325_9326delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.207_208delinsCA	ENSP00000435707.3:p.Gly70Ser
ENST00000526780.6:c.207_208delinsCA	ENSP00000435668.2:p.Gly70Ser
ENST00000527316.6:c.33_34delinsCA	ENSP00000435047.2:p.Gly12Ser
ENST00000529990.6:c.33_34delinsCA	ENSP00000435058.2:p.Gly12Ser
ENST00000682708.1:c.207_208delinsCA	ENSP00000506866.1:p.Gly70Ser
ENST00000682880.1:c.207_208delinsCA	ENSP00000507520.1:p.Gly70Ser
ENST00000683287.1:c.207_208delinsCA	ENSP00000507607.1:p.Gly70Ser
ENST00000683714.1:c.207_208delinsCA	ENSP00000508207.1:p.Gly70Ser
ENST00000683874.1:n.484_485delinsCA
ENST00000685320.1:c.-333-46_-333-45delinsCA	ENSP00000509319.1:n.-333-46_-333-45delinsCA
ENST00000690257.1:c.111_112delinsCA	ENSP00000510750.1:p.Gly38Ser
ENST00000355527.8:c.207_208delinsCA MANE Select	ENSP00000347717.4:p.Gly70Ser
ENST00000355527.7:c.207_208delinsCA	ENSP00000347717.3:p.Gly70Ser
ENST00000407721.6:c.207_208delinsCA	ENSP00000384739.2:p.Gly70Ser
ENST00000525346.5:c.207_208delinsCA	ENSP00000435707.2:p.Gly70Ser
ENST00000526780.5:c.207_208delinsCA	ENSP00000435668.1:p.Gly70Ser
ENST00000527316.5:c.111_112delinsCA	ENSP00000435047.1:p.Gly38Ser
ENST00000527452.1:c.207_208delinsCA	ENSP00000436007.1:p.Gly70Ser
ENST00000529990.5:c.147_148delinsCA	ENSP00000435058.1:p.Gly50Ser
ENST00000531364.5:c.207_208delinsCA	ENSP00000432589.1:p.Gly70Ser
NM_001163817.1:c.207_208delinsCA	NP_001157289.1:p.Gly70Ser
NM_001360.2:c.207_208delinsCA , LRG_340t1:c.207_208delinsCA	NP_001351.2:p.Gly70Ser
XM_011544777.1:c.207_208delinsCA	XP_011543079.1:p.Gly70Ser
XM_011544777.2:c.207_208delinsCA	XP_011543079.1:p.Gly70Ser
NM_001163817.2:c.207_208delinsCA	NP_001157289.1:p.Gly70Ser
NM_001360.3:c.207_208delinsCA MANE Select	NP_001351.2:p.Gly70Ser