Canonical Allele Identifier: CA947337746

Gene: VDR

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47891891_47891892insCCCCCCCCC , CM000674.2:g.47891891_47891892insCCCCCCCCC	GRCh38
NC_000012.11:g.48285674_48285675insCCCCCCCCC , CM000674.1:g.48285674_48285675insCCCCCCCCC	GRCh37
NC_000012.10:g.46571941_46571942insCCCCCCCCC	NCBI36
NG_008731.1:g.18142_18143insGGGGGGGGG

Transcript Alleles

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