Canonical Allele Identifier: CA2034408821

Gene: VDR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844563_47844564delinsGC , CM000674.2:g.47844563_47844564delinsGC	GRCh38
NC_000012.11:g.48238346_48238347delinsGC , CM000674.1:g.48238346_48238347delinsGC	GRCh37
NC_000012.10:g.46524613_46524614delinsGC	NCBI36
NG_008731.1:g.65468_65469delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1466_1467delinsGC	ENSP00000229022.5:p.Gly489=
ENST00000549336.6:c.*182_*183delinsGC MANE Select	ENSP00000449573.2:n.*182_*183delinsGC
ENST00000229022.7:c.*182_*183delinsGC	ENSP00000229022.3:n.*182_*183delinsGC
ENST00000395324.6:c.*182_*183delinsGC	ENSP00000378734.2:n.*182_*183delinsGC
ENST00000547065.1:c.*1468_*1469delinsGC	ENSP00000449074.1:n.*1468_*1469delinsGC
ENST00000549336.5:c.*182_*183delinsGC	ENSP00000449573.1:n.*182_*183delinsGC
ENST00000550325.5:c.*182_*183delinsGC	ENSP00000447173.1:n.*182_*183delinsGC
NM_000376.2:c.*182_*183delinsGC	NP_000367.1:n.*182_*183delinsGC
NM_001017535.1:c.*182_*183delinsGC	NP_001017535.1:n.*182_*183delinsGC
NM_001017536.1:c.*182_*183delinsGC	NP_001017536.1:n.*182_*183delinsGC
XM_006719587.2:c.*182_*183delinsGC	XP_006719650.1:n.*182_*183delinsGC
XM_011538720.1:c.*182_*183delinsGC	XP_011537022.1:n.*182_*183delinsGC
NM_001364085.1:c.1466_1467delinsGC	NP_001351014.1:p.Gly489=
NM_000376.3:c.*182_*183delinsGC MANE Select	NP_000367.1:n.*182_*183delinsGC
NM_001017535.2:c.*182_*183delinsGC	NP_001017535.1:n.*182_*183delinsGC
NM_001017536.2:c.*182_*183delinsGC	NP_001017536.1:n.*182_*183delinsGC
NM_001364085.2:c.1466_1467delinsGC	NP_001351014.1:p.Gly489=
NM_001374661.1:c.*182_*183delinsGC	NP_001361590.1:n.*182_*183delinsGC
NM_001374662.1:c.*182_*183delinsGC	NP_001361591.1:n.*182_*183delinsGC