Canonical Allele Identifier: CA689458557

Gene: VDR

Linked Data

• dbSNP Id: rs1447574792
• gnomAD v3: 12-47892137-T-TC
• gnomAD v4: 12-47892137-T-TC
• MyVariant Identifiers: chr12:g.48285920_48285921insC (hg19) ; chr12:g.47892137_47892138insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47892137_47892138insC , CM000674.2:g.47892137_47892138insC	GRCh38
NC_000012.11:g.48285920_48285921insC , CM000674.1:g.48285920_48285921insC	GRCh37
NC_000012.10:g.46572187_46572188insC	NCBI36
NG_008731.1:g.17894_17895insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549336.6:c.-83-9364_-83-9363insG MANE Select	ENSP00000449573.2:n.-83-9364_-83-9363insG
ENST00000229022.7:c.-84+7699_-84+7700insG	ENSP00000229022.3:n.-84+7699_-84+7700insG
ENST00000395324.6:c.-83-9364_-83-9363insG	ENSP00000378734.2:n.-83-9364_-83-9363insG
ENST00000546653.5:c.-3+7699_-3+7700insG	ENSP00000448659.1:n.-3+7699_-3+7700insG
ENST00000547065.1:c.-3+12817_-3+12818insG	ENSP00000449074.1:n.-3+12817_-3+12818insG
ENST00000548664.1:c.-84+7699_-84+7700insG	ENSP00000450105.1:n.-84+7699_-84+7700insG
ENST00000549336.5:c.-83-9364_-83-9363insG	ENSP00000449573.1:n.-83-9364_-83-9363insG
ENST00000550325.5:c.68-9364_68-9363insG	ENSP00000447173.1:n.68-9364_68-9363insG
NM_000376.2:c.-83-9364_-83-9363insG	NP_000367.1:n.-83-9364_-83-9363insG
NM_001017535.1:c.-84+7699_-84+7700insG	NP_001017535.1:n.-84+7699_-84+7700insG
NM_001017536.1:c.68-9364_68-9363insG	NP_001017536.1:n.68-9364_68-9363insG
XM_006719587.2:c.-3+12817_-3+12818insG	XP_006719650.1:n.-3+12817_-3+12818insG
XM_011538720.1:c.-3+7699_-3+7700insG	XP_011537022.1:n.-3+7699_-3+7700insG
NM_001364085.1:c.-83-9364_-83-9363insG	NP_001351014.1:n.-83-9364_-83-9363insG
XM_006719587.3:c.-3+12817_-3+12818insG	XP_006719650.1:n.-3+12817_-3+12818insG
XM_011538720.2:c.-3+7699_-3+7700insG	XP_011537022.1:n.-3+7699_-3+7700insG
XM_024449178.1:c.67+12426_67+12427insG	XP_024304946.1:n.67+12426_67+12427insG
NM_000376.3:c.-83-9364_-83-9363insG MANE Select	NP_000367.1:n.-83-9364_-83-9363insG
NM_001017535.2:c.-84+7699_-84+7700insG	NP_001017535.1:n.-84+7699_-84+7700insG
NM_001017536.2:c.68-9364_68-9363insG	NP_001017536.1:n.68-9364_68-9363insG
NM_001364085.2:c.-83-9364_-83-9363insG	NP_001351014.1:n.-83-9364_-83-9363insG
NM_001374661.1:c.-3+7699_-3+7700insG	NP_001361590.1:n.-3+7699_-3+7700insG
NM_001374662.1:c.-3+12817_-3+12818insG	NP_001361591.1:n.-3+12817_-3+12818insG