Canonical Allele Identifier: CA2618496367

Gene: VDR

Linked Data

• gnomAD v4: 12-47844546-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844547_47844548del , CM000674.2:g.47844547_47844548del	GRCh38
NC_000012.11:g.48238330_48238331del , CM000674.1:g.48238330_48238331del	GRCh37
NC_000012.10:g.46524597_46524598del	NCBI36
NG_008731.1:g.65484_65485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1482_1483del	ENSP00000229022.5:p.Ter495ArgextTer5
ENST00000549336.6:c.*198_*199del MANE Select	ENSP00000449573.2:n.*198_*199del
ENST00000229022.7:c.*198_*199del	ENSP00000229022.3:n.*198_*199del
ENST00000395324.6:c.*198_*199del	ENSP00000378734.2:n.*198_*199del
ENST00000547065.1:c.*1484_*1485del	ENSP00000449074.1:n.*1484_*1485del
ENST00000549336.5:c.*198_*199del	ENSP00000449573.1:n.*198_*199del
ENST00000550325.5:c.*198_*199del	ENSP00000447173.1:n.*198_*199del
NM_000376.2:c.*198_*199del	NP_000367.1:n.*198_*199del
NM_001017535.1:c.*198_*199del	NP_001017535.1:n.*198_*199del
NM_001017536.1:c.*198_*199del	NP_001017536.1:n.*198_*199del
XM_006719587.2:c.*198_*199del	XP_006719650.1:n.*198_*199del
XM_011538720.1:c.*198_*199del	XP_011537022.1:n.*198_*199del
NM_001364085.1:c.1482_1483del	NP_001351014.1:p.Ter495ArgextTer5
NM_000376.3:c.*198_*199del MANE Select	NP_000367.1:n.*198_*199del
NM_001017535.2:c.*198_*199del	NP_001017535.1:n.*198_*199del
NM_001017536.2:c.*198_*199del	NP_001017536.1:n.*198_*199del
NM_001364085.2:c.1482_1483del	NP_001351014.1:p.Ter495ArgextTer5
NM_001374661.1:c.*198_*199del	NP_001361590.1:n.*198_*199del
NM_001374662.1:c.*198_*199del	NP_001361591.1:n.*198_*199del