Canonical Allele Identifier: CA689458463

Gene: VDR

Linked Data

• dbSNP Id: rs1252709860
• MyVariant Identifiers: chr12:g.48285679_48285682del (hg19) ; chr12:g.47891896_47891899del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47891902_47891905del , CM000674.2:g.47891902_47891905del	GRCh38
NC_000012.11:g.48285685_48285688del , CM000674.1:g.48285685_48285688del	GRCh37
NC_000012.10:g.46571952_46571955del	NCBI36
NG_008731.1:g.18133_18136del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549336.6:c.-83-9125_-83-9122del MANE Select	ENSP00000449573.2:n.-83-9125_-83-9122del
ENST00000229022.7:c.-84+7938_-84+7941del	ENSP00000229022.3:n.-84+7938_-84+7941del
ENST00000395324.6:c.-83-9125_-83-9122del	ENSP00000378734.2:n.-83-9125_-83-9122del
ENST00000546653.5:c.-3+7938_-3+7941del	ENSP00000448659.1:n.-3+7938_-3+7941del
ENST00000547065.1:c.-2-12784_-2-12781del	ENSP00000449074.1:n.-2-12784_-2-12781del
ENST00000548664.1:c.-84+7938_-84+7941del	ENSP00000450105.1:n.-84+7938_-84+7941del
ENST00000549336.5:c.-83-9125_-83-9122del	ENSP00000449573.1:n.-83-9125_-83-9122del
ENST00000550325.5:c.68-9125_68-9122del	ENSP00000447173.1:n.68-9125_68-9122del
NM_000376.2:c.-83-9125_-83-9122del	NP_000367.1:n.-83-9125_-83-9122del
NM_001017535.1:c.-84+7938_-84+7941del	NP_001017535.1:n.-84+7938_-84+7941del
NM_001017536.1:c.68-9125_68-9122del	NP_001017536.1:n.68-9125_68-9122del
XM_006719587.2:c.-2-12784_-2-12781del	XP_006719650.1:n.-2-12784_-2-12781del
XM_011538720.1:c.-3+7938_-3+7941del	XP_011537022.1:n.-3+7938_-3+7941del
NM_001364085.1:c.-83-9125_-83-9122del	NP_001351014.1:n.-83-9125_-83-9122del
XM_006719587.3:c.-2-12784_-2-12781del	XP_006719650.1:n.-2-12784_-2-12781del
XM_011538720.2:c.-3+7938_-3+7941del	XP_011537022.1:n.-3+7938_-3+7941del
XM_024449178.1:c.67+12665_67+12668del	XP_024304946.1:n.67+12665_67+12668del
NM_000376.3:c.-83-9125_-83-9122del MANE Select	NP_000367.1:n.-83-9125_-83-9122del
NM_001017535.2:c.-84+7938_-84+7941del	NP_001017535.1:n.-84+7938_-84+7941del
NM_001017536.2:c.68-9125_68-9122del	NP_001017536.1:n.68-9125_68-9122del
NM_001364085.2:c.-83-9125_-83-9122del	NP_001351014.1:n.-83-9125_-83-9122del
NM_001374661.1:c.-3+7938_-3+7941del	NP_001361590.1:n.-3+7938_-3+7941del
NM_001374662.1:c.-2-12784_-2-12781del	NP_001361591.1:n.-2-12784_-2-12781del