Canonical Allele Identifier: CA2695216861

Gene: VDR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844826_47844833del , CM000674.2:g.47844826_47844833del	GRCh38
NC_000012.11:g.48238609_48238616del , CM000674.1:g.48238609_48238616del	GRCh37
NC_000012.10:g.46524876_46524883del	NCBI36
NG_008731.1:g.65201_65208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1199_1206del	ENSP00000229022.5:p.Gln400LeufsTer7
ENST00000549336.6:c.1199_1206del MANE Select	ENSP00000449573.2:p.Gln400LeufsTer7
ENST00000229022.7:c.1199_1206del	ENSP00000229022.3:p.Gln400LeufsTer7
ENST00000395324.6:c.1199_1206del	ENSP00000378734.2:p.Gln400LeufsTer7
ENST00000547065.1:c.*1201_*1208del	ENSP00000449074.1:n.*1201_*1208del
ENST00000549336.5:c.1199_1206del	ENSP00000449573.1:p.Gln400LeufsTer7
ENST00000550325.5:c.1349_1356del	ENSP00000447173.1:p.Gln450LeufsTer7
NM_000376.2:c.1199_1206del	NP_000367.1:p.Gln400LeufsTer7
NM_001017535.1:c.1199_1206del	NP_001017535.1:p.Gln400LeufsTer7
NM_001017536.1:c.1349_1356del	NP_001017536.1:p.Gln450LeufsTer7
XM_006719587.2:c.1199_1206del	XP_006719650.1:p.Gln400LeufsTer7
XM_011538720.1:c.1199_1206del	XP_011537022.1:p.Gln400LeufsTer7
NM_001364085.1:c.1199_1206del	NP_001351014.1:p.Gln400LeufsTer7
XM_006719587.3:c.1199_1206del	XP_006719650.1:p.Gln400LeufsTer7
XM_011538720.2:c.1199_1206del	XP_011537022.1:p.Gln400LeufsTer7
XM_024449178.1:c.1268_1275del	XP_024304946.1:p.Gln423LeufsTer7
NM_000376.3:c.1199_1206del MANE Select	NP_000367.1:p.Gln400LeufsTer7
NM_001017535.2:c.1199_1206del	NP_001017535.1:p.Gln400LeufsTer7
NM_001017536.2:c.1349_1356del	NP_001017536.1:p.Gln450LeufsTer7
NM_001364085.2:c.1199_1206del	NP_001351014.1:p.Gln400LeufsTer7
NM_001374661.1:c.1199_1206del	NP_001361590.1:p.Gln400LeufsTer7
NM_001374662.1:c.1199_1206del	NP_001361591.1:p.Gln400LeufsTer7