Canonical Allele Identifier: CA947337755

Gene: VDR

Linked Data

• gnomAD v3: 12-47891890-CCA-C
• gnomAD v4: 12-47891890-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47891892_47891893del , CM000674.2:g.47891892_47891893del	GRCh38
NC_000012.11:g.48285675_48285676del , CM000674.1:g.48285675_48285676del	GRCh37
NC_000012.10:g.46571942_46571943del	NCBI36
NG_008731.1:g.18140_18141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549336.6:c.-83-9118_-83-9117del MANE Select	ENSP00000449573.2:n.-83-9118_-83-9117del
ENST00000229022.7:c.-84+7945_-84+7946del	ENSP00000229022.3:n.-84+7945_-84+7946del
ENST00000395324.6:c.-83-9118_-83-9117del	ENSP00000378734.2:n.-83-9118_-83-9117del
ENST00000546653.5:c.-3+7945_-3+7946del	ENSP00000448659.1:n.-3+7945_-3+7946del
ENST00000547065.1:c.-2-12777_-2-12776del	ENSP00000449074.1:n.-2-12777_-2-12776del
ENST00000548664.1:c.-84+7945_-84+7946del	ENSP00000450105.1:n.-84+7945_-84+7946del
ENST00000549336.5:c.-83-9118_-83-9117del	ENSP00000449573.1:n.-83-9118_-83-9117del
ENST00000550325.5:c.68-9118_68-9117del	ENSP00000447173.1:n.68-9118_68-9117del
NM_000376.2:c.-83-9118_-83-9117del	NP_000367.1:n.-83-9118_-83-9117del
NM_001017535.1:c.-84+7945_-84+7946del	NP_001017535.1:n.-84+7945_-84+7946del
NM_001017536.1:c.68-9118_68-9117del	NP_001017536.1:n.68-9118_68-9117del
XM_006719587.2:c.-2-12777_-2-12776del	XP_006719650.1:n.-2-12777_-2-12776del
XM_011538720.1:c.-3+7945_-3+7946del	XP_011537022.1:n.-3+7945_-3+7946del
NM_001364085.1:c.-83-9118_-83-9117del	NP_001351014.1:n.-83-9118_-83-9117del
XM_006719587.3:c.-2-12777_-2-12776del	XP_006719650.1:n.-2-12777_-2-12776del
XM_011538720.2:c.-3+7945_-3+7946del	XP_011537022.1:n.-3+7945_-3+7946del
XM_024449178.1:c.67+12672_67+12673del	XP_024304946.1:n.67+12672_67+12673del
NM_000376.3:c.-83-9118_-83-9117del MANE Select	NP_000367.1:n.-83-9118_-83-9117del
NM_001017535.2:c.-84+7945_-84+7946del	NP_001017535.1:n.-84+7945_-84+7946del
NM_001017536.2:c.68-9118_68-9117del	NP_001017536.1:n.68-9118_68-9117del
NM_001364085.2:c.-83-9118_-83-9117del	NP_001351014.1:n.-83-9118_-83-9117del
NM_001374661.1:c.-3+7945_-3+7946del	NP_001361590.1:n.-3+7945_-3+7946del
NM_001374662.1:c.-2-12777_-2-12776del	NP_001361591.1:n.-2-12777_-2-12776del