Canonical Allele Identifier: CA689458606
Gene: VDR HGNC NCBI

Linked Data

dbSNP Id: rs1185762322

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47892229_47892235del , CM000674.2:g.47892229_47892235del GRCh38
NC_000012.11:g.48286012_48286018del , CM000674.1:g.48286012_48286018del GRCh37
NC_000012.10:g.46572279_46572285del NCBI36
NG_008731.1:g.17798_17804del

Transcript Alleles

HGVS Amino-acid Change
ENST00000549336.6:c.-83-9460_-83-9454del MANE Select ENSP00000449573.2:n.-83-9460_-83-9454del
ENST00000229022.7:c.-84+7603_-84+7609del ENSP00000229022.3:n.-84+7603_-84+7609del
ENST00000395324.6:c.-83-9460_-83-9454del ENSP00000378734.2:n.-83-9460_-83-9454del
ENST00000546653.5:c.-3+7603_-3+7609del ENSP00000448659.1:n.-3+7603_-3+7609del
ENST00000547065.1:c.-3+12721_-3+12727del ENSP00000449074.1:n.-3+12721_-3+12727del
ENST00000548664.1:c.-84+7603_-84+7609del ENSP00000450105.1:n.-84+7603_-84+7609del
ENST00000549336.5:c.-83-9460_-83-9454del ENSP00000449573.1:n.-83-9460_-83-9454del
ENST00000550325.5:c.68-9460_68-9454del ENSP00000447173.1:n.68-9460_68-9454del
NM_000376.2:c.-83-9460_-83-9454del NP_000367.1:n.-83-9460_-83-9454del
NM_001017535.1:c.-84+7603_-84+7609del NP_001017535.1:n.-84+7603_-84+7609del
NM_001017536.1:c.68-9460_68-9454del NP_001017536.1:n.68-9460_68-9454del
XM_006719587.2:c.-3+12721_-3+12727del XP_006719650.1:n.-3+12721_-3+12727del
XM_011538720.1:c.-3+7603_-3+7609del XP_011537022.1:n.-3+7603_-3+7609del
NM_001364085.1:c.-83-9460_-83-9454del NP_001351014.1:n.-83-9460_-83-9454del
XM_006719587.3:c.-3+12721_-3+12727del XP_006719650.1:n.-3+12721_-3+12727del
XM_011538720.2:c.-3+7603_-3+7609del XP_011537022.1:n.-3+7603_-3+7609del
XM_024449178.1:c.67+12330_67+12336del XP_024304946.1:n.67+12330_67+12336del
NM_000376.3:c.-83-9460_-83-9454del MANE Select NP_000367.1:n.-83-9460_-83-9454del
NM_001017535.2:c.-84+7603_-84+7609del NP_001017535.1:n.-84+7603_-84+7609del
NM_001017536.2:c.68-9460_68-9454del NP_001017536.1:n.68-9460_68-9454del
NM_001364085.2:c.-83-9460_-83-9454del NP_001351014.1:n.-83-9460_-83-9454del
NM_001374661.1:c.-3+7603_-3+7609del NP_001361590.1:n.-3+7603_-3+7609del
NM_001374662.1:c.-3+12721_-3+12727del NP_001361591.1:n.-3+12721_-3+12727del