Canonical Allele Identifier: CA2034437715

Gene: VDR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47892232_47892235delinsGCAC , CM000674.2:g.47892232_47892235delinsGCAC	GRCh38
NC_000012.11:g.48286015_48286018delinsGCAC , CM000674.1:g.48286015_48286018delinsGCAC	GRCh37
NC_000012.10:g.46572282_46572285delinsGCAC	NCBI36
NG_008731.1:g.17797_17800delinsGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549336.6:c.-83-9461_-83-9458delinsGTGC MANE Select	ENSP00000449573.2:n.-83-9461_-83-9458delinsGTGC
ENST00000229022.7:c.-84+7602_-84+7605delinsGTGC	ENSP00000229022.3:n.-84+7602_-84+7605delinsGTGC
ENST00000395324.6:c.-83-9461_-83-9458delinsGTGC	ENSP00000378734.2:n.-83-9461_-83-9458delinsGTGC
ENST00000546653.5:c.-3+7602_-3+7605delinsGTGC	ENSP00000448659.1:n.-3+7602_-3+7605delinsGTGC
ENST00000547065.1:c.-3+12720_-3+12723delinsGTGC	ENSP00000449074.1:n.-3+12720_-3+12723delinsGTGC
ENST00000548664.1:c.-84+7602_-84+7605delinsGTGC	ENSP00000450105.1:n.-84+7602_-84+7605delinsGTGC
ENST00000549336.5:c.-83-9461_-83-9458delinsGTGC	ENSP00000449573.1:n.-83-9461_-83-9458delinsGTGC
ENST00000550325.5:c.68-9461_68-9458delinsGTGC	ENSP00000447173.1:n.68-9461_68-9458delinsGTGC
NM_000376.2:c.-83-9461_-83-9458delinsGTGC	NP_000367.1:n.-83-9461_-83-9458delinsGTGC
NM_001017535.1:c.-84+7602_-84+7605delinsGTGC	NP_001017535.1:n.-84+7602_-84+7605delinsGTGC
NM_001017536.1:c.68-9461_68-9458delinsGTGC	NP_001017536.1:n.68-9461_68-9458delinsGTGC
XM_006719587.2:c.-3+12720_-3+12723delinsGTGC	XP_006719650.1:n.-3+12720_-3+12723delinsGTGC
XM_011538720.1:c.-3+7602_-3+7605delinsGTGC	XP_011537022.1:n.-3+7602_-3+7605delinsGTGC
NM_001364085.1:c.-83-9461_-83-9458delinsGTGC	NP_001351014.1:n.-83-9461_-83-9458delinsGTGC
XM_006719587.3:c.-3+12720_-3+12723delinsGTGC	XP_006719650.1:n.-3+12720_-3+12723delinsGTGC
XM_011538720.2:c.-3+7602_-3+7605delinsGTGC	XP_011537022.1:n.-3+7602_-3+7605delinsGTGC
XM_024449178.1:c.67+12329_67+12332delinsGTGC	XP_024304946.1:n.67+12329_67+12332delinsGTGC
NM_000376.3:c.-83-9461_-83-9458delinsGTGC MANE Select	NP_000367.1:n.-83-9461_-83-9458delinsGTGC
NM_001017535.2:c.-84+7602_-84+7605delinsGTGC	NP_001017535.1:n.-84+7602_-84+7605delinsGTGC
NM_001017536.2:c.68-9461_68-9458delinsGTGC	NP_001017536.1:n.68-9461_68-9458delinsGTGC
NM_001364085.2:c.-83-9461_-83-9458delinsGTGC	NP_001351014.1:n.-83-9461_-83-9458delinsGTGC
NM_001374661.1:c.-3+7602_-3+7605delinsGTGC	NP_001361590.1:n.-3+7602_-3+7605delinsGTGC
NM_001374662.1:c.-3+12720_-3+12723delinsGTGC	NP_001361591.1:n.-3+12720_-3+12723delinsGTGC