Canonical Allele Identifier: CA2838642964

Gene: VDR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844929dup , CM000674.2:g.47844929dup	GRCh38
NC_000012.11:g.48238712dup , CM000674.1:g.48238712dup	GRCh37
NC_000012.10:g.46524979dup	NCBI36
NG_008731.1:g.65104dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1102dup	ENSP00000229022.5:p.Arg368ProfsTer28
ENST00000549336.6:c.1102dup MANE Select	ENSP00000449573.2:p.Arg368ProfsTer28
ENST00000229022.7:c.1102dup	ENSP00000229022.3:p.Arg368ProfsTer28
ENST00000395324.6:c.1102dup	ENSP00000378734.2:p.Arg368ProfsTer28
ENST00000547065.1:c.*1104dup	ENSP00000449074.1:n.*1104dup
ENST00000549336.5:c.1102dup	ENSP00000449573.1:p.Arg368ProfsTer28
ENST00000550325.5:c.1252dup	ENSP00000447173.1:p.Arg418ProfsTer28
NM_000376.2:c.1102dup	NP_000367.1:p.Arg368ProfsTer28
NM_001017535.1:c.1102dup	NP_001017535.1:p.Arg368ProfsTer28
NM_001017536.1:c.1252dup	NP_001017536.1:p.Arg418ProfsTer28
XM_006719587.2:c.1102dup	XP_006719650.1:p.Arg368ProfsTer28
XM_011538720.1:c.1102dup	XP_011537022.1:p.Arg368ProfsTer28
NM_001364085.1:c.1102dup	NP_001351014.1:p.Arg368ProfsTer28
XM_006719587.3:c.1102dup	XP_006719650.1:p.Arg368ProfsTer28
XM_011538720.2:c.1102dup	XP_011537022.1:p.Arg368ProfsTer28
XM_024449178.1:c.1171dup	XP_024304946.1:p.Arg391ProfsTer28
NM_000376.3:c.1102dup MANE Select	NP_000367.1:p.Arg368ProfsTer28
NM_001017535.2:c.1102dup	NP_001017535.1:p.Arg368ProfsTer28
NM_001017536.2:c.1252dup	NP_001017536.1:p.Arg418ProfsTer28
NM_001364085.2:c.1102dup	NP_001351014.1:p.Arg368ProfsTer28
NM_001374661.1:c.1102dup	NP_001361590.1:p.Arg368ProfsTer28
NM_001374662.1:c.1102dup	NP_001361591.1:p.Arg368ProfsTer28