Canonical Allele Identifier: CA2034413785

Gene: VDR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47855852_47855854delinsGCC , CM000674.2:g.47855852_47855854delinsGCC	GRCh38
NC_000012.11:g.48249635_48249637delinsGCC , CM000674.1:g.48249635_48249637delinsGCC	GRCh37
NC_000012.10:g.46535902_46535904delinsGCC	NCBI36
NG_008731.1:g.54178_54180delinsGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.584-53_584-51delinsGGC	ENSP00000229022.5:n.584-53_584-51delinsGGC
ENST00000549336.6:c.584-53_584-51delinsGGC MANE Select	ENSP00000449573.2:n.584-53_584-51delinsGGC
ENST00000229022.7:c.584-53_584-51delinsGGC	ENSP00000229022.3:n.584-53_584-51delinsGGC
ENST00000395324.6:c.584-53_584-51delinsGGC	ENSP00000378734.2:n.584-53_584-51delinsGGC
ENST00000546653.5:c.584-53_584-51delinsGGC	ENSP00000448659.1:n.584-53_584-51delinsGGC
ENST00000547065.1:c.*586-53_*586-51delinsGGC	ENSP00000449074.1:n.*586-53_*586-51delinsGGC
ENST00000549336.5:c.584-53_584-51delinsGGC	ENSP00000449573.1:n.584-53_584-51delinsGGC
ENST00000550325.5:c.734-53_734-51delinsGGC	ENSP00000447173.1:n.734-53_734-51delinsGGC
NM_000376.2:c.584-53_584-51delinsGGC	NP_000367.1:n.584-53_584-51delinsGGC
NM_001017535.1:c.584-53_584-51delinsGGC	NP_001017535.1:n.584-53_584-51delinsGGC
NM_001017536.1:c.734-53_734-51delinsGGC	NP_001017536.1:n.734-53_734-51delinsGGC
XM_006719587.2:c.584-53_584-51delinsGGC	XP_006719650.1:n.584-53_584-51delinsGGC
XM_011538720.1:c.584-53_584-51delinsGGC	XP_011537022.1:n.584-53_584-51delinsGGC
NM_001364085.1:c.584-53_584-51delinsGGC	NP_001351014.1:n.584-53_584-51delinsGGC
XM_006719587.3:c.584-53_584-51delinsGGC	XP_006719650.1:n.584-53_584-51delinsGGC
XM_011538720.2:c.584-53_584-51delinsGGC	XP_011537022.1:n.584-53_584-51delinsGGC
XM_024449178.1:c.653-53_653-51delinsGGC	XP_024304946.1:n.653-53_653-51delinsGGC
NM_000376.3:c.584-53_584-51delinsGGC MANE Select	NP_000367.1:n.584-53_584-51delinsGGC
NM_001017535.2:c.584-53_584-51delinsGGC	NP_001017535.1:n.584-53_584-51delinsGGC
NM_001017536.2:c.734-53_734-51delinsGGC	NP_001017536.1:n.734-53_734-51delinsGGC
NM_001364085.2:c.584-53_584-51delinsGGC	NP_001351014.1:n.584-53_584-51delinsGGC
NM_001374661.1:c.584-53_584-51delinsGGC	NP_001361590.1:n.584-53_584-51delinsGGC
NM_001374662.1:c.584-53_584-51delinsGGC	NP_001361591.1:n.584-53_584-51delinsGGC