Canonical Allele Identifier: CA2618500260

Gene: VDR

Linked Data

• gnomAD v4: 12-47846666-C-CGTCACT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47846668_47846673dup , CM000674.2:g.47846668_47846673dup	GRCh38
NC_000012.11:g.48240451_48240456dup , CM000674.1:g.48240451_48240456dup	GRCh37
NC_000012.10:g.46526718_46526723dup	NCBI36
NG_008731.1:g.63360_63365dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.892_897dup	ENSP00000229022.5:p.Asp299_Val300insSerAsp
ENST00000549336.6:c.892_897dup MANE Select	ENSP00000449573.2:p.Asp299_Val300insSerAsp
ENST00000229022.7:c.892_897dup	ENSP00000229022.3:p.Asp299_Val300insSerAsp
ENST00000395324.6:c.892_897dup	ENSP00000378734.2:p.Asp299_Val300insSerAsp
ENST00000547065.1:c.*894_*899dup	ENSP00000449074.1:n.*894_*899dup
ENST00000549336.5:c.892_897dup	ENSP00000449573.1:p.Asp299_Val300insSerAsp
ENST00000550325.5:c.1042_1047dup	ENSP00000447173.1:p.Asp349_Val350insSerAsp
NM_000376.2:c.892_897dup	NP_000367.1:p.Asp299_Val300insSerAsp
NM_001017535.1:c.892_897dup	NP_001017535.1:p.Asp299_Val300insSerAsp
NM_001017536.1:c.1042_1047dup	NP_001017536.1:p.Asp349_Val350insSerAsp
XM_006719587.2:c.892_897dup	XP_006719650.1:p.Asp299_Val300insSerAsp
XM_011538720.1:c.892_897dup	XP_011537022.1:p.Asp299_Val300insSerAsp
NM_001364085.1:c.892_897dup	NP_001351014.1:p.Asp299_Val300insSerAsp
XM_006719587.3:c.892_897dup	XP_006719650.1:p.Asp299_Val300insSerAsp
XM_011538720.2:c.892_897dup	XP_011537022.1:p.Asp299_Val300insSerAsp
XM_024449178.1:c.961_966dup	XP_024304946.1:p.Asp322_Val323insSerAsp
NM_000376.3:c.892_897dup MANE Select	NP_000367.1:p.Asp299_Val300insSerAsp
NM_001017535.2:c.892_897dup	NP_001017535.1:p.Asp299_Val300insSerAsp
NM_001017536.2:c.1042_1047dup	NP_001017536.1:p.Asp349_Val350insSerAsp
NM_001364085.2:c.892_897dup	NP_001351014.1:p.Asp299_Val300insSerAsp
NM_001374661.1:c.892_897dup	NP_001361590.1:p.Asp299_Val300insSerAsp
NM_001374662.1:c.892_897dup	NP_001361591.1:p.Asp299_Val300insSerAsp