Canonical Allele Identifier: CA2795869804
Gene: VDR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47892253_47892254insAGGG , CM000674.2:g.47892253_47892254insAGGG GRCh38
NC_000012.11:g.48286036_48286037insAGGG , CM000674.1:g.48286036_48286037insAGGG GRCh37
NC_000012.10:g.46572303_46572304insAGGG NCBI36
NG_008731.1:g.17779_17780insCCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000549336.6:c.-83-9479_-83-9478insCCTC MANE Select ENSP00000449573.2:n.-83-9479_-83-9478insCCTC
ENST00000229022.7:c.-84+7584_-84+7585insCCTC ENSP00000229022.3:n.-84+7584_-84+7585insCCTC
ENST00000395324.6:c.-83-9479_-83-9478insCCTC ENSP00000378734.2:n.-83-9479_-83-9478insCCTC
ENST00000546653.5:c.-3+7584_-3+7585insCCTC ENSP00000448659.1:n.-3+7584_-3+7585insCCTC
ENST00000547065.1:c.-3+12702_-3+12703insCCTC ENSP00000449074.1:n.-3+12702_-3+12703insCCTC
ENST00000548664.1:c.-84+7584_-84+7585insCCTC ENSP00000450105.1:n.-84+7584_-84+7585insCCTC
ENST00000549336.5:c.-83-9479_-83-9478insCCTC ENSP00000449573.1:n.-83-9479_-83-9478insCCTC
ENST00000550325.5:c.68-9479_68-9478insCCTC ENSP00000447173.1:n.68-9479_68-9478insCCTC
NM_000376.2:c.-83-9479_-83-9478insCCTC NP_000367.1:n.-83-9479_-83-9478insCCTC
NM_001017535.1:c.-84+7584_-84+7585insCCTC NP_001017535.1:n.-84+7584_-84+7585insCCTC
NM_001017536.1:c.68-9479_68-9478insCCTC NP_001017536.1:n.68-9479_68-9478insCCTC
XM_006719587.2:c.-3+12702_-3+12703insCCTC XP_006719650.1:n.-3+12702_-3+12703insCCTC
XM_011538720.1:c.-3+7584_-3+7585insCCTC XP_011537022.1:n.-3+7584_-3+7585insCCTC
NM_001364085.1:c.-83-9479_-83-9478insCCTC NP_001351014.1:n.-83-9479_-83-9478insCCTC
XM_006719587.3:c.-3+12702_-3+12703insCCTC XP_006719650.1:n.-3+12702_-3+12703insCCTC
XM_011538720.2:c.-3+7584_-3+7585insCCTC XP_011537022.1:n.-3+7584_-3+7585insCCTC
XM_024449178.1:c.67+12311_67+12312insCCTC XP_024304946.1:n.67+12311_67+12312insCCTC
NM_000376.3:c.-83-9479_-83-9478insCCTC MANE Select NP_000367.1:n.-83-9479_-83-9478insCCTC
NM_001017535.2:c.-84+7584_-84+7585insCCTC NP_001017535.1:n.-84+7584_-84+7585insCCTC
NM_001017536.2:c.68-9479_68-9478insCCTC NP_001017536.1:n.68-9479_68-9478insCCTC
NM_001364085.2:c.-83-9479_-83-9478insCCTC NP_001351014.1:n.-83-9479_-83-9478insCCTC
NM_001374661.1:c.-3+7584_-3+7585insCCTC NP_001361590.1:n.-3+7584_-3+7585insCCTC
NM_001374662.1:c.-3+12702_-3+12703insCCTC NP_001361591.1:n.-3+12702_-3+12703insCCTC