Canonical Allele Identifier: CA689466749

Gene: VDR

Linked Data

• dbSNP Id: rs1449754043
• gnomAD v3: 12-47855852-GCC-G
• gnomAD v4: 12-47855852-GCC-G
• MyVariant Identifiers: chr12:g.48249636_48249637del (hg19) ; chr12:g.47855853_47855854del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47855856_47855857del , CM000674.2:g.47855856_47855857del	GRCh38
NC_000012.11:g.48249639_48249640del , CM000674.1:g.48249639_48249640del	GRCh37
NC_000012.10:g.46535906_46535907del	NCBI36
NG_008731.1:g.54178_54179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.584-53_584-52del	ENSP00000229022.5:n.584-53_584-52del
ENST00000549336.6:c.584-53_584-52del MANE Select	ENSP00000449573.2:n.584-53_584-52del
ENST00000229022.7:c.584-53_584-52del	ENSP00000229022.3:n.584-53_584-52del
ENST00000395324.6:c.584-53_584-52del	ENSP00000378734.2:n.584-53_584-52del
ENST00000546653.5:c.584-53_584-52del	ENSP00000448659.1:n.584-53_584-52del
ENST00000547065.1:c.*586-53_*586-52del	ENSP00000449074.1:n.*586-53_*586-52del
ENST00000549336.5:c.584-53_584-52del	ENSP00000449573.1:n.584-53_584-52del
ENST00000550325.5:c.734-53_734-52del	ENSP00000447173.1:n.734-53_734-52del
NM_000376.2:c.584-53_584-52del	NP_000367.1:n.584-53_584-52del
NM_001017535.1:c.584-53_584-52del	NP_001017535.1:n.584-53_584-52del
NM_001017536.1:c.734-53_734-52del	NP_001017536.1:n.734-53_734-52del
XM_006719587.2:c.584-53_584-52del	XP_006719650.1:n.584-53_584-52del
XM_011538720.1:c.584-53_584-52del	XP_011537022.1:n.584-53_584-52del
NM_001364085.1:c.584-53_584-52del	NP_001351014.1:n.584-53_584-52del
XM_006719587.3:c.584-53_584-52del	XP_006719650.1:n.584-53_584-52del
XM_011538720.2:c.584-53_584-52del	XP_011537022.1:n.584-53_584-52del
XM_024449178.1:c.653-53_653-52del	XP_024304946.1:n.653-53_653-52del
NM_000376.3:c.584-53_584-52del MANE Select	NP_000367.1:n.584-53_584-52del
NM_001017535.2:c.584-53_584-52del	NP_001017535.1:n.584-53_584-52del
NM_001017536.2:c.734-53_734-52del	NP_001017536.1:n.734-53_734-52del
NM_001364085.2:c.584-53_584-52del	NP_001351014.1:n.584-53_584-52del
NM_001374661.1:c.584-53_584-52del	NP_001361590.1:n.584-53_584-52del
NM_001374662.1:c.584-53_584-52del	NP_001361591.1:n.584-53_584-52del