Canonical Allele Identifier: CA2618496719

Gene: VDR

Linked Data

• gnomAD v4: 12-47844649-C-CGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844651_47844653dup , CM000674.2:g.47844651_47844653dup	GRCh38
NC_000012.11:g.48238434_48238436dup , CM000674.1:g.48238434_48238436dup	GRCh37
NC_000012.10:g.46524701_46524703dup	NCBI36
NG_008731.1:g.65380_65382dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1378_1380dup	ENSP00000229022.5:p.Pro460_Val461insPro
ENST00000549336.6:c.*94_*96dup MANE Select	ENSP00000449573.2:n.*94_*96dup
ENST00000229022.7:c.*94_*96dup	ENSP00000229022.3:n.*94_*96dup
ENST00000395324.6:c.*94_*96dup	ENSP00000378734.2:n.*94_*96dup
ENST00000547065.1:c.*1380_*1382dup	ENSP00000449074.1:n.*1380_*1382dup
ENST00000549336.5:c.*94_*96dup	ENSP00000449573.1:n.*94_*96dup
ENST00000550325.5:c.*94_*96dup	ENSP00000447173.1:n.*94_*96dup
NM_000376.2:c.*94_*96dup	NP_000367.1:n.*94_*96dup
NM_001017535.1:c.*94_*96dup	NP_001017535.1:n.*94_*96dup
NM_001017536.1:c.*94_*96dup	NP_001017536.1:n.*94_*96dup
XM_006719587.2:c.*94_*96dup	XP_006719650.1:n.*94_*96dup
XM_011538720.1:c.*94_*96dup	XP_011537022.1:n.*94_*96dup
NM_001364085.1:c.1378_1380dup	NP_001351014.1:p.Pro460_Val461insPro
NM_000376.3:c.*94_*96dup MANE Select	NP_000367.1:n.*94_*96dup
NM_001017535.2:c.*94_*96dup	NP_001017535.1:n.*94_*96dup
NM_001017536.2:c.*94_*96dup	NP_001017536.1:n.*94_*96dup
NM_001364085.2:c.1378_1380dup	NP_001351014.1:p.Pro460_Val461insPro
NM_001374661.1:c.*94_*96dup	NP_001361590.1:n.*94_*96dup
NM_001374662.1:c.*94_*96dup	NP_001361591.1:n.*94_*96dup