Canonical Allele Identifier: CA947340588

Gene: VDR

Linked Data

• dbSNP Id: rs1945472829
• gnomAD v3: 12-47855752-ATCT-A
• gnomAD v4: 12-47855752-ATCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47855758_47855760del , CM000674.2:g.47855758_47855760del	GRCh38
NC_000012.11:g.48249541_48249543del , CM000674.1:g.48249541_48249543del	GRCh37
NC_000012.10:g.46535808_46535810del	NCBI36
NG_008731.1:g.54277_54279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.630_632del	ENSP00000229022.5:p.Glu210del
ENST00000549336.6:c.630_632del MANE Select	ENSP00000449573.2:p.Glu210del
ENST00000229022.7:c.630_632del	ENSP00000229022.3:p.Glu210del
ENST00000395324.6:c.630_632del	ENSP00000378734.2:p.Glu210del
ENST00000546653.5:c.630_632del	ENSP00000448659.1:p.Glu210del
ENST00000547065.1:c.*632_*634del	ENSP00000449074.1:n.*632_*634del
ENST00000549336.5:c.630_632del	ENSP00000449573.1:p.Glu210del
ENST00000550325.5:c.780_782del	ENSP00000447173.1:p.Glu260del
NM_000376.2:c.630_632del	NP_000367.1:p.Glu210del
NM_001017535.1:c.630_632del	NP_001017535.1:p.Glu210del
NM_001017536.1:c.780_782del	NP_001017536.1:p.Glu260del
XM_006719587.2:c.630_632del	XP_006719650.1:p.Glu210del
XM_011538720.1:c.630_632del	XP_011537022.1:p.Glu210del
NM_001364085.1:c.630_632del	NP_001351014.1:p.Glu210del
XM_006719587.3:c.630_632del	XP_006719650.1:p.Glu210del
XM_011538720.2:c.630_632del	XP_011537022.1:p.Glu210del
XM_024449178.1:c.699_701del	XP_024304946.1:p.Glu233del
NM_000376.3:c.630_632del MANE Select	NP_000367.1:p.Glu210del
NM_001017535.2:c.630_632del	NP_001017535.1:p.Glu210del
NM_001017536.2:c.780_782del	NP_001017536.1:p.Glu260del
NM_001364085.2:c.630_632del	NP_001351014.1:p.Glu210del
NM_001374661.1:c.630_632del	NP_001361590.1:p.Glu210del
NM_001374662.1:c.630_632del	NP_001361591.1:p.Glu210del