Canonical Allele Identifier: CA2523044747

Gene: VDR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47891890_47891891dup , CM000674.2:g.47891890_47891891dup	GRCh38
NC_000012.11:g.48285673_48285674dup , CM000674.1:g.48285673_48285674dup	GRCh37
NC_000012.10:g.46571940_46571941dup	NCBI36
NG_008731.1:g.18141_18142dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549336.6:c.-83-9117_-83-9116dup MANE Select	ENSP00000449573.2:n.-83-9117_-83-9116dup
ENST00000229022.7:c.-84+7946_-84+7947dup	ENSP00000229022.3:n.-84+7946_-84+7947dup
ENST00000395324.6:c.-83-9117_-83-9116dup	ENSP00000378734.2:n.-83-9117_-83-9116dup
ENST00000546653.5:c.-3+7946_-3+7947dup	ENSP00000448659.1:n.-3+7946_-3+7947dup
ENST00000547065.1:c.-2-12776_-2-12775dup	ENSP00000449074.1:n.-2-12776_-2-12775dup
ENST00000548664.1:c.-84+7946_-84+7947dup	ENSP00000450105.1:n.-84+7946_-84+7947dup
ENST00000549336.5:c.-83-9117_-83-9116dup	ENSP00000449573.1:n.-83-9117_-83-9116dup
ENST00000550325.5:c.68-9117_68-9116dup	ENSP00000447173.1:n.68-9117_68-9116dup
NM_000376.2:c.-83-9117_-83-9116dup	NP_000367.1:n.-83-9117_-83-9116dup
NM_001017535.1:c.-84+7946_-84+7947dup	NP_001017535.1:n.-84+7946_-84+7947dup
NM_001017536.1:c.68-9117_68-9116dup	NP_001017536.1:n.68-9117_68-9116dup
XM_006719587.2:c.-2-12776_-2-12775dup	XP_006719650.1:n.-2-12776_-2-12775dup
XM_011538720.1:c.-3+7946_-3+7947dup	XP_011537022.1:n.-3+7946_-3+7947dup
NM_001364085.1:c.-83-9117_-83-9116dup	NP_001351014.1:n.-83-9117_-83-9116dup
XM_006719587.3:c.-2-12776_-2-12775dup	XP_006719650.1:n.-2-12776_-2-12775dup
XM_011538720.2:c.-3+7946_-3+7947dup	XP_011537022.1:n.-3+7946_-3+7947dup
XM_024449178.1:c.67+12673_67+12674dup	XP_024304946.1:n.67+12673_67+12674dup
NM_000376.3:c.-83-9117_-83-9116dup MANE Select	NP_000367.1:n.-83-9117_-83-9116dup
NM_001017535.2:c.-84+7946_-84+7947dup	NP_001017535.1:n.-84+7946_-84+7947dup
NM_001017536.2:c.68-9117_68-9116dup	NP_001017536.1:n.68-9117_68-9116dup
NM_001364085.2:c.-83-9117_-83-9116dup	NP_001351014.1:n.-83-9117_-83-9116dup
NM_001374661.1:c.-3+7946_-3+7947dup	NP_001361590.1:n.-3+7946_-3+7947dup
NM_001374662.1:c.-2-12776_-2-12775dup	NP_001361591.1:n.-2-12776_-2-12775dup