Canonical Allele Identifier: CA2034417686
Gene: VDR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47863882_47863887delinsATTTTT , CM000674.2:g.47863882_47863887delinsATTTTT GRCh38
NC_000012.11:g.48257665_48257670delinsATTTTT , CM000674.1:g.48257665_48257670delinsATTTTT GRCh37
NC_000012.10:g.46543932_46543937delinsATTTTT NCBI36
NG_008731.1:g.46145_46150delinsAAAAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000229022.9:c.277+1160_277+1165delinsAAAAAT ENSP00000229022.5:n.277+1160_277+1165delinsAAAAAT
ENST00000549336.6:c.277+1160_277+1165delinsAAAAAT MANE Select ENSP00000449573.2:n.277+1160_277+1165delinsAAAAAT
ENST00000229022.7:c.277+1160_277+1165delinsAAAAAT ENSP00000229022.3:n.277+1160_277+1165delinsAAAAAT
ENST00000395324.6:c.277+1160_277+1165delinsAAAAAT ENSP00000378734.2:n.277+1160_277+1165delinsAAAAAT
ENST00000546653.5:c.277+1160_277+1165delinsAAAAAT ENSP00000448659.1:n.277+1160_277+1165delinsAAAAAT
ENST00000547065.1:c.*279+1160_*279+1165delinsAAAAAT ENSP00000449074.1:n.*279+1160_*279+1165delinsAAAAAT
ENST00000548664.1:c.277+1160_277+1165delinsAAAAAT ENSP00000450105.1:n.277+1160_277+1165delinsAAAAAT
ENST00000549336.5:c.277+1160_277+1165delinsAAAAAT ENSP00000449573.1:n.277+1160_277+1165delinsAAAAAT
ENST00000550314.5:c.277+1160_277+1165delinsAAAAAT ENSP00000449561.1:n.277+1160_277+1165delinsAAAAAT
ENST00000550325.5:c.427+1160_427+1165delinsAAAAAT ENSP00000447173.1:n.427+1160_427+1165delinsAAAAAT
NM_000376.2:c.277+1160_277+1165delinsAAAAAT NP_000367.1:n.277+1160_277+1165delinsAAAAAT
NM_001017535.1:c.277+1160_277+1165delinsAAAAAT NP_001017535.1:n.277+1160_277+1165delinsAAAAAT
NM_001017536.1:c.427+1160_427+1165delinsAAAAAT NP_001017536.1:n.427+1160_427+1165delinsAAAAAT
XM_006719587.2:c.277+1160_277+1165delinsAAAAAT XP_006719650.1:n.277+1160_277+1165delinsAAAAAT
XM_011538720.1:c.277+1160_277+1165delinsAAAAAT XP_011537022.1:n.277+1160_277+1165delinsAAAAAT
NM_001364085.1:c.277+1160_277+1165delinsAAAAAT NP_001351014.1:n.277+1160_277+1165delinsAAAAAT
XM_006719587.3:c.277+1160_277+1165delinsAAAAAT XP_006719650.1:n.277+1160_277+1165delinsAAAAAT
XM_011538720.2:c.277+1160_277+1165delinsAAAAAT XP_011537022.1:n.277+1160_277+1165delinsAAAAAT
XM_024449178.1:c.346+1160_346+1165delinsAAAAAT XP_024304946.1:n.346+1160_346+1165delinsAAAAAT
NM_000376.3:c.277+1160_277+1165delinsAAAAAT MANE Select NP_000367.1:n.277+1160_277+1165delinsAAAAAT
NM_001017535.2:c.277+1160_277+1165delinsAAAAAT NP_001017535.1:n.277+1160_277+1165delinsAAAAAT
NM_001017536.2:c.427+1160_427+1165delinsAAAAAT NP_001017536.1:n.427+1160_427+1165delinsAAAAAT
NM_001364085.2:c.277+1160_277+1165delinsAAAAAT NP_001351014.1:n.277+1160_277+1165delinsAAAAAT
NM_001374661.1:c.277+1160_277+1165delinsAAAAAT NP_001361590.1:n.277+1160_277+1165delinsAAAAAT
NM_001374662.1:c.277+1160_277+1165delinsAAAAAT NP_001361591.1:n.277+1160_277+1165delinsAAAAAT