Canonical Allele Identifier: CA6533705

Gene: VDR

Linked Data

• dbSNP Id: rs762676552
• ExAC: 12:48238493 GCAGCCCCA / G
• gnomAD v2: 12-48238493-GCAGCCCCA-G
• gnomAD v4: 12-47844710-GCAGCCCCA-G
• MyVariant Identifiers: chr12:g.48238494_48238501del (hg19) ; chr12:g.47844711_47844718del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844712_47844719del , CM000674.2:g.47844712_47844719del	GRCh38
NC_000012.11:g.48238495_48238502del , CM000674.1:g.48238495_48238502del	GRCh37
NC_000012.10:g.46524762_46524769del	NCBI36
NG_008731.1:g.65314_65321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1312_1319del	ENSP00000229022.5:p.Trp438LeufsTer?
ENST00000549336.6:c.*28_*35del MANE Select	ENSP00000449573.2:n.*28_*35del
ENST00000229022.7:c.*28_*35del	ENSP00000229022.3:n.*28_*35del
ENST00000395324.6:c.*28_*35del	ENSP00000378734.2:n.*28_*35del
ENST00000547065.1:c.*1314_*1321del	ENSP00000449074.1:n.*1314_*1321del
ENST00000549336.5:c.*28_*35del	ENSP00000449573.1:n.*28_*35del
ENST00000550325.5:c.*28_*35del	ENSP00000447173.1:n.*28_*35del
NM_000376.2:c.*28_*35del	NP_000367.1:n.*28_*35del
NM_001017535.1:c.*28_*35del	NP_001017535.1:n.*28_*35del
NM_001017536.1:c.*28_*35del	NP_001017536.1:n.*28_*35del
XM_006719587.2:c.*28_*35del	XP_006719650.1:n.*28_*35del
XM_011538720.1:c.*28_*35del	XP_011537022.1:n.*28_*35del
NM_001364085.1:c.1312_1319del	NP_001351014.1:p.Trp438LeufsTer?
NM_000376.3:c.*28_*35del MANE Select	NP_000367.1:n.*28_*35del
NM_001017535.2:c.*28_*35del	NP_001017535.1:n.*28_*35del
NM_001017536.2:c.*28_*35del	NP_001017536.1:n.*28_*35del
NM_001364085.2:c.1312_1319del	NP_001351014.1:p.Trp438LeufsTer?
NM_001374661.1:c.*28_*35del	NP_001361590.1:n.*28_*35del
NM_001374662.1:c.*28_*35del	NP_001361591.1:n.*28_*35del