Canonical Allele Identifier: CA947340658

Gene: VDR

Linked Data

• dbSNP Id: rs1945482789
• gnomAD v3: 12-47856105-GA-G
• gnomAD v4: 12-47856105-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47856112del , CM000674.2:g.47856112del	GRCh38
NC_000012.11:g.48249895del , CM000674.1:g.48249895del	GRCh37
NC_000012.10:g.46536162del	NCBI36
NG_008731.1:g.53926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.584-305del	ENSP00000229022.5:n.584-305del
ENST00000549336.6:c.584-305del MANE Select	ENSP00000449573.2:n.584-305del
ENST00000229022.7:c.584-305del	ENSP00000229022.3:n.584-305del
ENST00000395324.6:c.584-305del	ENSP00000378734.2:n.584-305del
ENST00000546653.5:c.584-305del	ENSP00000448659.1:n.584-305del
ENST00000547065.1:c.*586-305del	ENSP00000449074.1:n.*586-305del
ENST00000549336.5:c.584-305del	ENSP00000449573.1:n.584-305del
ENST00000550325.5:c.734-305del	ENSP00000447173.1:n.734-305del
NM_000376.2:c.584-305del	NP_000367.1:n.584-305del
NM_001017535.1:c.584-305del	NP_001017535.1:n.584-305del
NM_001017536.1:c.734-305del	NP_001017536.1:n.734-305del
XM_006719587.2:c.584-305del	XP_006719650.1:n.584-305del
XM_011538720.1:c.584-305del	XP_011537022.1:n.584-305del
NM_001364085.1:c.584-305del	NP_001351014.1:n.584-305del
XM_006719587.3:c.584-305del	XP_006719650.1:n.584-305del
XM_011538720.2:c.584-305del	XP_011537022.1:n.584-305del
XM_024449178.1:c.653-305del	XP_024304946.1:n.653-305del
NM_000376.3:c.584-305del MANE Select	NP_000367.1:n.584-305del
NM_001017535.2:c.584-305del	NP_001017535.1:n.584-305del
NM_001017536.2:c.734-305del	NP_001017536.1:n.734-305del
NM_001364085.2:c.584-305del	NP_001351014.1:n.584-305del
NM_001374661.1:c.584-305del	NP_001361590.1:n.584-305del
NM_001374662.1:c.584-305del	NP_001361591.1:n.584-305del