Canonical Allele Identifier: CA2034413893
Gene: VDR HGNC NCBI

Linked Data

dbSNP Id: rs1945482847

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47856115_47856130del , CM000674.2:g.47856115_47856130del GRCh38
NC_000012.11:g.48249898_48249913del , CM000674.1:g.48249898_48249913del GRCh37
NC_000012.10:g.46536165_46536180del NCBI36
NG_008731.1:g.53906_53921del

Transcript Alleles

HGVS Amino-acid Change
ENST00000229022.9:c.584-325_584-310del ENSP00000229022.5:n.584-325_584-310del
ENST00000549336.6:c.584-325_584-310del MANE Select ENSP00000449573.2:n.584-325_584-310del
ENST00000229022.7:c.584-325_584-310del ENSP00000229022.3:n.584-325_584-310del
ENST00000395324.6:c.584-325_584-310del ENSP00000378734.2:n.584-325_584-310del
ENST00000546653.5:c.584-325_584-310del ENSP00000448659.1:n.584-325_584-310del
ENST00000547065.1:c.*586-325_*586-310del ENSP00000449074.1:n.*586-325_*586-310del
ENST00000549336.5:c.584-325_584-310del ENSP00000449573.1:n.584-325_584-310del
ENST00000550325.5:c.734-325_734-310del ENSP00000447173.1:n.734-325_734-310del
NM_000376.2:c.584-325_584-310del NP_000367.1:n.584-325_584-310del
NM_001017535.1:c.584-325_584-310del NP_001017535.1:n.584-325_584-310del
NM_001017536.1:c.734-325_734-310del NP_001017536.1:n.734-325_734-310del
XM_006719587.2:c.584-325_584-310del XP_006719650.1:n.584-325_584-310del
XM_011538720.1:c.584-325_584-310del XP_011537022.1:n.584-325_584-310del
NM_001364085.1:c.584-325_584-310del NP_001351014.1:n.584-325_584-310del
XM_006719587.3:c.584-325_584-310del XP_006719650.1:n.584-325_584-310del
XM_011538720.2:c.584-325_584-310del XP_011537022.1:n.584-325_584-310del
XM_024449178.1:c.653-325_653-310del XP_024304946.1:n.653-325_653-310del
NM_000376.3:c.584-325_584-310del MANE Select NP_000367.1:n.584-325_584-310del
NM_001017535.2:c.584-325_584-310del NP_001017535.1:n.584-325_584-310del
NM_001017536.2:c.734-325_734-310del NP_001017536.1:n.734-325_734-310del
NM_001364085.2:c.584-325_584-310del NP_001351014.1:n.584-325_584-310del
NM_001374661.1:c.584-325_584-310del NP_001361590.1:n.584-325_584-310del
NM_001374662.1:c.584-325_584-310del NP_001361591.1:n.584-325_584-310del