Canonical Allele Identifier: CA2034408806

Gene: VDR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844526_47844527delinsAC , CM000674.2:g.47844526_47844527delinsAC	GRCh38
NC_000012.11:g.48238309_48238310delinsAC , CM000674.1:g.48238309_48238310delinsAC	GRCh37
NC_000012.10:g.46524576_46524577delinsAC	NCBI36
NG_008731.1:g.65505_65506delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.*18_*19delinsGT	ENSP00000229022.5:n.*18_*19delinsGT
ENST00000549336.6:c.*219_*220delinsGT MANE Select	ENSP00000449573.2:n.*219_*220delinsGT
ENST00000229022.7:c.*219_*220delinsGT	ENSP00000229022.3:n.*219_*220delinsGT
ENST00000395324.6:c.*219_*220delinsGT	ENSP00000378734.2:n.*219_*220delinsGT
ENST00000547065.1:c.*1505_*1506delinsGT	ENSP00000449074.1:n.*1505_*1506delinsGT
ENST00000549336.5:c.*219_*220delinsGT	ENSP00000449573.1:n.*219_*220delinsGT
ENST00000550325.5:c.*219_*220delinsGT	ENSP00000447173.1:n.*219_*220delinsGT
NM_000376.2:c.*219_*220delinsGT	NP_000367.1:n.*219_*220delinsGT
NM_001017535.1:c.*219_*220delinsGT	NP_001017535.1:n.*219_*220delinsGT
NM_001017536.1:c.*219_*220delinsGT	NP_001017536.1:n.*219_*220delinsGT
XM_006719587.2:c.*219_*220delinsGT	XP_006719650.1:n.*219_*220delinsGT
XM_011538720.1:c.*219_*220delinsGT	XP_011537022.1:n.*219_*220delinsGT
NM_001364085.1:c.*18_*19delinsGT	NP_001351014.1:n.*18_*19delinsGT
NM_000376.3:c.*219_*220delinsGT MANE Select	NP_000367.1:n.*219_*220delinsGT
NM_001017535.2:c.*219_*220delinsGT	NP_001017535.1:n.*219_*220delinsGT
NM_001017536.2:c.*219_*220delinsGT	NP_001017536.1:n.*219_*220delinsGT
NM_001364085.2:c.*18_*19delinsGT	NP_001351014.1:n.*18_*19delinsGT
NM_001374661.1:c.*219_*220delinsGT	NP_001361590.1:n.*219_*220delinsGT
NM_001374662.1:c.*219_*220delinsGT	NP_001361591.1:n.*219_*220delinsGT