Canonical Allele Identifier: CA2034408841

Gene: VDR

Linked Data

• dbSNP Id: rs1945236881
• gnomAD v4: 12-47844591-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844598_47844599del , CM000674.2:g.47844598_47844599del	GRCh38
NC_000012.11:g.48238381_48238382del , CM000674.1:g.48238381_48238382del	GRCh37
NC_000012.10:g.46524648_46524649del	NCBI36
NG_008731.1:g.65439_65440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1437_1438del	ENSP00000229022.5:p.Pro480CysfsTer4
ENST00000549336.6:c.*153_*154del MANE Select	ENSP00000449573.2:n.*153_*154del
ENST00000229022.7:c.*153_*154del	ENSP00000229022.3:n.*153_*154del
ENST00000395324.6:c.*153_*154del	ENSP00000378734.2:n.*153_*154del
ENST00000547065.1:c.*1439_*1440del	ENSP00000449074.1:n.*1439_*1440del
ENST00000549336.5:c.*153_*154del	ENSP00000449573.1:n.*153_*154del
ENST00000550325.5:c.*153_*154del	ENSP00000447173.1:n.*153_*154del
NM_000376.2:c.*153_*154del	NP_000367.1:n.*153_*154del
NM_001017535.1:c.*153_*154del	NP_001017535.1:n.*153_*154del
NM_001017536.1:c.*153_*154del	NP_001017536.1:n.*153_*154del
XM_006719587.2:c.*153_*154del	XP_006719650.1:n.*153_*154del
XM_011538720.1:c.*153_*154del	XP_011537022.1:n.*153_*154del
NM_001364085.1:c.1437_1438del	NP_001351014.1:p.Pro480CysfsTer4
NM_000376.3:c.*153_*154del MANE Select	NP_000367.1:n.*153_*154del
NM_001017535.2:c.*153_*154del	NP_001017535.1:n.*153_*154del
NM_001017536.2:c.*153_*154del	NP_001017536.1:n.*153_*154del
NM_001364085.2:c.1437_1438del	NP_001351014.1:p.Pro480CysfsTer4
NM_001374661.1:c.*153_*154del	NP_001361590.1:n.*153_*154del
NM_001374662.1:c.*153_*154del	NP_001361591.1:n.*153_*154del