Canonical Allele Identifier: CA947337751

Gene: VDR

Linked Data

• dbSNP Id: rs1946377223
• gnomAD v3: 12-47891889-A-ACCC
• gnomAD v4: 12-47891889-A-ACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47891891_47891892insCCC , CM000674.2:g.47891891_47891892insCCC	GRCh38
NC_000012.11:g.48285674_48285675insCCC , CM000674.1:g.48285674_48285675insCCC	GRCh37
NC_000012.10:g.46571941_46571942insCCC	NCBI36
NG_008731.1:g.18142_18143insGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549336.6:c.-83-9116_-83-9115insGGG MANE Select	ENSP00000449573.2:n.-83-9116_-83-9115insGGG
ENST00000229022.7:c.-84+7947_-84+7948insGGG	ENSP00000229022.3:n.-84+7947_-84+7948insGGG
ENST00000395324.6:c.-83-9116_-83-9115insGGG	ENSP00000378734.2:n.-83-9116_-83-9115insGGG
ENST00000546653.5:c.-3+7947_-3+7948insGGG	ENSP00000448659.1:n.-3+7947_-3+7948insGGG
ENST00000547065.1:c.-2-12775_-2-12774insGGG	ENSP00000449074.1:n.-2-12775_-2-12774insGGG
ENST00000548664.1:c.-84+7947_-84+7948insGGG	ENSP00000450105.1:n.-84+7947_-84+7948insGGG
ENST00000549336.5:c.-83-9116_-83-9115insGGG	ENSP00000449573.1:n.-83-9116_-83-9115insGGG
ENST00000550325.5:c.68-9116_68-9115insGGG	ENSP00000447173.1:n.68-9116_68-9115insGGG
NM_000376.2:c.-83-9116_-83-9115insGGG	NP_000367.1:n.-83-9116_-83-9115insGGG
NM_001017535.1:c.-84+7947_-84+7948insGGG	NP_001017535.1:n.-84+7947_-84+7948insGGG
NM_001017536.1:c.68-9116_68-9115insGGG	NP_001017536.1:n.68-9116_68-9115insGGG
XM_006719587.2:c.-2-12775_-2-12774insGGG	XP_006719650.1:n.-2-12775_-2-12774insGGG
XM_011538720.1:c.-3+7947_-3+7948insGGG	XP_011537022.1:n.-3+7947_-3+7948insGGG
NM_001364085.1:c.-83-9116_-83-9115insGGG	NP_001351014.1:n.-83-9116_-83-9115insGGG
XM_006719587.3:c.-2-12775_-2-12774insGGG	XP_006719650.1:n.-2-12775_-2-12774insGGG
XM_011538720.2:c.-3+7947_-3+7948insGGG	XP_011537022.1:n.-3+7947_-3+7948insGGG
XM_024449178.1:c.67+12674_67+12675insGGG	XP_024304946.1:n.67+12674_67+12675insGGG
NM_000376.3:c.-83-9116_-83-9115insGGG MANE Select	NP_000367.1:n.-83-9116_-83-9115insGGG
NM_001017535.2:c.-84+7947_-84+7948insGGG	NP_001017535.1:n.-84+7947_-84+7948insGGG
NM_001017536.2:c.68-9116_68-9115insGGG	NP_001017536.1:n.68-9116_68-9115insGGG
NM_001364085.2:c.-83-9116_-83-9115insGGG	NP_001351014.1:n.-83-9116_-83-9115insGGG
NM_001374661.1:c.-3+7947_-3+7948insGGG	NP_001361590.1:n.-3+7947_-3+7948insGGG
NM_001374662.1:c.-2-12775_-2-12774insGGG	NP_001361591.1:n.-2-12775_-2-12774insGGG