Canonical Allele Identifier: CA236505797

Gene: VDR

Linked Data

• dbSNP Id: rs764635747
• gnomAD v3: 12-47844556-GGGAA-G
• gnomAD v4: 12-47844556-GGGAA-G
• MyVariant Identifiers: chr12:g.48238340_48238343del (hg19) ; chr12:g.47844557_47844560del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844557_47844560del , CM000674.2:g.47844557_47844560del	GRCh38
NC_000012.11:g.48238340_48238343del , CM000674.1:g.48238340_48238343del	GRCh37
NC_000012.10:g.46524607_46524610del	NCBI36
NG_008731.1:g.65472_65475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1470_1473del	ENSP00000229022.5:p.Ser491ArgfsTer?
ENST00000549336.6:c.*186_*189del MANE Select	ENSP00000449573.2:n.*186_*189del
ENST00000229022.7:c.*186_*189del	ENSP00000229022.3:n.*186_*189del
ENST00000395324.6:c.*186_*189del	ENSP00000378734.2:n.*186_*189del
ENST00000547065.1:c.*1472_*1475del	ENSP00000449074.1:n.*1472_*1475del
ENST00000549336.5:c.*186_*189del	ENSP00000449573.1:n.*186_*189del
ENST00000550325.5:c.*186_*189del	ENSP00000447173.1:n.*186_*189del
NM_000376.2:c.*186_*189del	NP_000367.1:n.*186_*189del
NM_001017535.1:c.*186_*189del	NP_001017535.1:n.*186_*189del
NM_001017536.1:c.*186_*189del	NP_001017536.1:n.*186_*189del
XM_006719587.2:c.*186_*189del	XP_006719650.1:n.*186_*189del
XM_011538720.1:c.*186_*189del	XP_011537022.1:n.*186_*189del
NM_001364085.1:c.1470_1473del	NP_001351014.1:p.Ser491ArgfsTer?
NM_000376.3:c.*186_*189del MANE Select	NP_000367.1:n.*186_*189del
NM_001017535.2:c.*186_*189del	NP_001017535.1:n.*186_*189del
NM_001017536.2:c.*186_*189del	NP_001017536.1:n.*186_*189del
NM_001364085.2:c.1470_1473del	NP_001351014.1:p.Ser491ArgfsTer?
NM_001374661.1:c.*186_*189del	NP_001361590.1:n.*186_*189del
NM_001374662.1:c.*186_*189del	NP_001361591.1:n.*186_*189del