Canonical Allele Identifier: CA2618500245

Gene: VDR

Linked Data

• gnomAD v4: 12-47846656-CCTTTGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47846658_47846664del , CM000674.2:g.47846658_47846664del	GRCh38
NC_000012.11:g.48240441_48240447del , CM000674.1:g.48240441_48240447del	GRCh37
NC_000012.10:g.46526708_46526714del	NCBI36
NG_008731.1:g.63369_63375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.901_907del	ENSP00000229022.5:p.Thr301ProfsTer7
ENST00000549336.6:c.901_907del MANE Select	ENSP00000449573.2:p.Thr301ProfsTer7
ENST00000229022.7:c.901_907del	ENSP00000229022.3:p.Thr301ProfsTer7
ENST00000395324.6:c.901_907del	ENSP00000378734.2:p.Thr301ProfsTer7
ENST00000547065.1:c.*903_*909del	ENSP00000449074.1:n.*903_*909del
ENST00000549336.5:c.901_907del	ENSP00000449573.1:p.Thr301ProfsTer7
ENST00000550325.5:c.1051_1057del	ENSP00000447173.1:p.Thr351ProfsTer7
NM_000376.2:c.901_907del	NP_000367.1:p.Thr301ProfsTer7
NM_001017535.1:c.901_907del	NP_001017535.1:p.Thr301ProfsTer7
NM_001017536.1:c.1051_1057del	NP_001017536.1:p.Thr351ProfsTer7
XM_006719587.2:c.901_907del	XP_006719650.1:p.Thr301ProfsTer7
XM_011538720.1:c.901_907del	XP_011537022.1:p.Thr301ProfsTer7
NM_001364085.1:c.901_907del	NP_001351014.1:p.Thr301ProfsTer7
XM_006719587.3:c.901_907del	XP_006719650.1:p.Thr301ProfsTer7
XM_011538720.2:c.901_907del	XP_011537022.1:p.Thr301ProfsTer7
XM_024449178.1:c.970_976del	XP_024304946.1:p.Thr324ProfsTer7
NM_000376.3:c.901_907del MANE Select	NP_000367.1:p.Thr301ProfsTer7
NM_001017535.2:c.901_907del	NP_001017535.1:p.Thr301ProfsTer7
NM_001017536.2:c.1051_1057del	NP_001017536.1:p.Thr351ProfsTer7
NM_001364085.2:c.901_907del	NP_001351014.1:p.Thr301ProfsTer7
NM_001374661.1:c.901_907del	NP_001361590.1:p.Thr301ProfsTer7
NM_001374662.1:c.901_907del	NP_001361591.1:p.Thr301ProfsTer7