Canonical Allele Identifier: CA604848807

Gene: VDR

Linked Data

• dbSNP Id: rs1217926587
• gnomAD v2: 12-48239885-TC-T
• gnomAD v3: 12-47846102-TC-T
• gnomAD v4: 12-47846102-TC-T
• MyVariant Identifiers: chr12:g.48239886del (hg19) ; chr12:g.47846103del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47846108del , CM000674.2:g.47846108del	GRCh38
NC_000012.11:g.48239891del , CM000674.1:g.48239891del	GRCh37
NC_000012.10:g.46526158del	NCBI36
NG_008731.1:g.63929del

Transcript Alleles

HGVS	Amino-acid change
ENST00000229022.9:c.1024+232del	ENSP00000229022.5:n.1024+232del
ENST00000549336.6:c.1024+232del MANE Select	ENSP00000449573.2:n.1024+232del
ENST00000229022.7:c.1024+232del	ENSP00000229022.3:n.1024+232del
ENST00000395324.6:c.1024+232del	ENSP00000378734.2:n.1024+232del
ENST00000547065.1:c.*1026+232del	ENSP00000449074.1:n.*1026+232del
ENST00000549336.5:c.1024+232del	ENSP00000449573.1:n.1024+232del
ENST00000550325.5:c.1174+232del	ENSP00000447173.1:n.1174+232del
NM_000376.2:c.1024+232del	NP_000367.1:n.1024+232del
NM_001017535.1:c.1024+232del	NP_001017535.1:n.1024+232del
NM_001017536.1:c.1174+232del	NP_001017536.1:n.1174+232del
XM_006719587.2:c.1024+232del	XP_006719650.1:n.1024+232del
XM_011538720.1:c.1024+232del	XP_011537022.1:n.1024+232del
NM_001364085.1:c.1024+232del	NP_001351014.1:n.1024+232del
XM_006719587.3:c.1024+232del	XP_006719650.1:n.1024+232del
XM_011538720.2:c.1024+232del	XP_011537022.1:n.1024+232del
XM_024449178.1:c.1093+232del	XP_024304946.1:n.1093+232del
NM_000376.3:c.1024+232del MANE Select	NP_000367.1:n.1024+232del
NM_001017535.2:c.1024+232del	NP_001017535.1:n.1024+232del
NM_001017536.2:c.1174+232del	NP_001017536.1:n.1174+232del
NM_001364085.2:c.1024+232del	NP_001351014.1:n.1024+232del
NM_001374661.1:c.1024+232del	NP_001361590.1:n.1024+232del
NM_001374662.1:c.1024+232del	NP_001361591.1:n.1024+232del