Canonical Allele Identifier: CA2795869788
Gene: VDR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47891921_47891922del , CM000674.2:g.47891921_47891922del GRCh38
NC_000012.11:g.48285704_48285705del , CM000674.1:g.48285704_48285705del GRCh37
NC_000012.10:g.46571971_46571972del NCBI36
NG_008731.1:g.18110_18111del

Transcript Alleles

HGVS Amino-acid Change
ENST00000549336.6:c.-83-9148_-83-9147del MANE Select ENSP00000449573.2:n.-83-9148_-83-9147del
ENST00000229022.7:c.-84+7915_-84+7916del ENSP00000229022.3:n.-84+7915_-84+7916del
ENST00000395324.6:c.-83-9148_-83-9147del ENSP00000378734.2:n.-83-9148_-83-9147del
ENST00000546653.5:c.-3+7915_-3+7916del ENSP00000448659.1:n.-3+7915_-3+7916del
ENST00000547065.1:c.-2-12807_-2-12806del ENSP00000449074.1:n.-2-12807_-2-12806del
ENST00000548664.1:c.-84+7915_-84+7916del ENSP00000450105.1:n.-84+7915_-84+7916del
ENST00000549336.5:c.-83-9148_-83-9147del ENSP00000449573.1:n.-83-9148_-83-9147del
ENST00000550325.5:c.68-9148_68-9147del ENSP00000447173.1:n.68-9148_68-9147del
NM_000376.2:c.-83-9148_-83-9147del NP_000367.1:n.-83-9148_-83-9147del
NM_001017535.1:c.-84+7915_-84+7916del NP_001017535.1:n.-84+7915_-84+7916del
NM_001017536.1:c.68-9148_68-9147del NP_001017536.1:n.68-9148_68-9147del
XM_006719587.2:c.-2-12807_-2-12806del XP_006719650.1:n.-2-12807_-2-12806del
XM_011538720.1:c.-3+7915_-3+7916del XP_011537022.1:n.-3+7915_-3+7916del
NM_001364085.1:c.-83-9148_-83-9147del NP_001351014.1:n.-83-9148_-83-9147del
XM_006719587.3:c.-2-12807_-2-12806del XP_006719650.1:n.-2-12807_-2-12806del
XM_011538720.2:c.-3+7915_-3+7916del XP_011537022.1:n.-3+7915_-3+7916del
XM_024449178.1:c.67+12642_67+12643del XP_024304946.1:n.67+12642_67+12643del
NM_000376.3:c.-83-9148_-83-9147del MANE Select NP_000367.1:n.-83-9148_-83-9147del
NM_001017535.2:c.-84+7915_-84+7916del NP_001017535.1:n.-84+7915_-84+7916del
NM_001017536.2:c.68-9148_68-9147del NP_001017536.1:n.68-9148_68-9147del
NM_001364085.2:c.-83-9148_-83-9147del NP_001351014.1:n.-83-9148_-83-9147del
NM_001374661.1:c.-3+7915_-3+7916del NP_001361590.1:n.-3+7915_-3+7916del
NM_001374662.1:c.-2-12807_-2-12806del NP_001361591.1:n.-2-12807_-2-12806del