Canonical Allele Identifier: CA2795861924

Gene: VDR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844685_47844717del , CM000674.2:g.47844685_47844717del	GRCh38
NC_000012.11:g.48238468_48238500del , CM000674.1:g.48238468_48238500del	GRCh37
NC_000012.10:g.46524735_46524767del	NCBI36
NG_008731.1:g.65322_65354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1320_1352del	ENSP00000229022.5:p.Cys440_Gly450del
ENST00000549336.6:c.*36_*68del MANE Select	ENSP00000449573.2:n.*36_*68del
ENST00000229022.7:c.*36_*68del	ENSP00000229022.3:n.*36_*68del
ENST00000395324.6:c.*36_*68del	ENSP00000378734.2:n.*36_*68del
ENST00000547065.1:c.*1322_*1354del	ENSP00000449074.1:n.*1322_*1354del
ENST00000549336.5:c.*36_*68del	ENSP00000449573.1:n.*36_*68del
ENST00000550325.5:c.*36_*68del	ENSP00000447173.1:n.*36_*68del
NM_000376.2:c.*36_*68del	NP_000367.1:n.*36_*68del
NM_001017535.1:c.*36_*68del	NP_001017535.1:n.*36_*68del
NM_001017536.1:c.*36_*68del	NP_001017536.1:n.*36_*68del
XM_006719587.2:c.*36_*68del	XP_006719650.1:n.*36_*68del
XM_011538720.1:c.*36_*68del	XP_011537022.1:n.*36_*68del
NM_001364085.1:c.1320_1352del	NP_001351014.1:p.Cys440_Gly450del
NM_000376.3:c.*36_*68del MANE Select	NP_000367.1:n.*36_*68del
NM_001017535.2:c.*36_*68del	NP_001017535.1:n.*36_*68del
NM_001017536.2:c.*36_*68del	NP_001017536.1:n.*36_*68del
NM_001364085.2:c.1320_1352del	NP_001351014.1:p.Cys440_Gly450del
NM_001374661.1:c.*36_*68del	NP_001361590.1:n.*36_*68del
NM_001374662.1:c.*36_*68del	NP_001361591.1:n.*36_*68del