Canonical Allele Identifier: CA2034409213

Gene: VDR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47845352_47845354delinsCTA , CM000674.2:g.47845352_47845354delinsCTA	GRCh38
NC_000012.11:g.48239135_48239137delinsCTA , CM000674.1:g.48239135_48239137delinsCTA	GRCh37
NC_000012.10:g.46525402_46525404delinsCTA	NCBI36
NG_008731.1:g.64678_64680delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1025-349_1025-347delinsTAG	ENSP00000229022.5:n.1025-349_1025-347delinsTAG
ENST00000549336.6:c.1025-349_1025-347delinsTAG MANE Select	ENSP00000449573.2:n.1025-349_1025-347delinsTAG
ENST00000229022.7:c.1025-349_1025-347delinsTAG	ENSP00000229022.3:n.1025-349_1025-347delinsTAG
ENST00000395324.6:c.1025-349_1025-347delinsTAG	ENSP00000378734.2:n.1025-349_1025-347delinsTAG
ENST00000547065.1:c.*1027-349_*1027-347delinsTAG	ENSP00000449074.1:n.*1027-349_*1027-347delinsTAG
ENST00000549336.5:c.1025-349_1025-347delinsTAG	ENSP00000449573.1:n.1025-349_1025-347delinsTAG
ENST00000550325.5:c.1175-349_1175-347delinsTAG	ENSP00000447173.1:n.1175-349_1175-347delinsTAG
NM_000376.2:c.1025-349_1025-347delinsTAG	NP_000367.1:n.1025-349_1025-347delinsTAG
NM_001017535.1:c.1025-349_1025-347delinsTAG	NP_001017535.1:n.1025-349_1025-347delinsTAG
NM_001017536.1:c.1175-349_1175-347delinsTAG	NP_001017536.1:n.1175-349_1175-347delinsTAG
XM_006719587.2:c.1025-349_1025-347delinsTAG	XP_006719650.1:n.1025-349_1025-347delinsTAG
XM_011538720.1:c.1025-349_1025-347delinsTAG	XP_011537022.1:n.1025-349_1025-347delinsTAG
NM_001364085.1:c.1025-349_1025-347delinsTAG	NP_001351014.1:n.1025-349_1025-347delinsTAG
XM_006719587.3:c.1025-349_1025-347delinsTAG	XP_006719650.1:n.1025-349_1025-347delinsTAG
XM_011538720.2:c.1025-349_1025-347delinsTAG	XP_011537022.1:n.1025-349_1025-347delinsTAG
XM_024449178.1:c.1094-349_1094-347delinsTAG	XP_024304946.1:n.1094-349_1094-347delinsTAG
NM_000376.3:c.1025-349_1025-347delinsTAG MANE Select	NP_000367.1:n.1025-349_1025-347delinsTAG
NM_001017535.2:c.1025-349_1025-347delinsTAG	NP_001017535.1:n.1025-349_1025-347delinsTAG
NM_001017536.2:c.1175-349_1175-347delinsTAG	NP_001017536.1:n.1175-349_1175-347delinsTAG
NM_001364085.2:c.1025-349_1025-347delinsTAG	NP_001351014.1:n.1025-349_1025-347delinsTAG
NM_001374661.1:c.1025-349_1025-347delinsTAG	NP_001361590.1:n.1025-349_1025-347delinsTAG
NM_001374662.1:c.1025-349_1025-347delinsTAG	NP_001361591.1:n.1025-349_1025-347delinsTAG