Canonical Allele Identifier: CA2596101195

Gene: VDR

Linked Data

• dbSNP Id: rs2137235087
• gnomAD v3: 12-47891916-C-CCCCCCCCA
• gnomAD v4: 12-47891916-C-CCCCCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47891917_47891918insCCCCCCAC , CM000674.2:g.47891917_47891918insCCCCCCAC	GRCh38
NC_000012.11:g.48285700_48285701insCCCCCCAC , CM000674.1:g.48285700_48285701insCCCCCCAC	GRCh37
NC_000012.10:g.46571967_46571968insCCCCCCAC	NCBI36
NG_008731.1:g.18115_18116insTGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549336.6:c.-83-9143_-83-9142insTGGGGGGG MANE Select	ENSP00000449573.2:n.-83-9143_-83-9142insTGGGGGGG
ENST00000229022.7:c.-84+7920_-84+7921insTGGGGGGG	ENSP00000229022.3:n.-84+7920_-84+7921insTGGGGGGG
ENST00000395324.6:c.-83-9143_-83-9142insTGGGGGGG	ENSP00000378734.2:n.-83-9143_-83-9142insTGGGGGGG
ENST00000546653.5:c.-3+7920_-3+7921insTGGGGGGG	ENSP00000448659.1:n.-3+7920_-3+7921insTGGGGGGG
ENST00000547065.1:c.-2-12802_-2-12801insTGGGGGGG	ENSP00000449074.1:n.-2-12802_-2-12801insTGGGGGGG
ENST00000548664.1:c.-84+7920_-84+7921insTGGGGGGG	ENSP00000450105.1:n.-84+7920_-84+7921insTGGGGGGG
ENST00000549336.5:c.-83-9143_-83-9142insTGGGGGGG	ENSP00000449573.1:n.-83-9143_-83-9142insTGGGGGGG
ENST00000550325.5:c.68-9143_68-9142insTGGGGGGG	ENSP00000447173.1:n.68-9143_68-9142insTGGGGGGG
NM_000376.2:c.-83-9143_-83-9142insTGGGGGGG	NP_000367.1:n.-83-9143_-83-9142insTGGGGGGG
NM_001017535.1:c.-84+7920_-84+7921insTGGGGGGG	NP_001017535.1:n.-84+7920_-84+7921insTGGGGGGG
NM_001017536.1:c.68-9143_68-9142insTGGGGGGG	NP_001017536.1:n.68-9143_68-9142insTGGGGGGG
XM_006719587.2:c.-2-12802_-2-12801insTGGGGGGG	XP_006719650.1:n.-2-12802_-2-12801insTGGGGGGG
XM_011538720.1:c.-3+7920_-3+7921insTGGGGGGG	XP_011537022.1:n.-3+7920_-3+7921insTGGGGGGG
NM_001364085.1:c.-83-9143_-83-9142insTGGGGGGG	NP_001351014.1:n.-83-9143_-83-9142insTGGGGGGG
XM_006719587.3:c.-2-12802_-2-12801insTGGGGGGG	XP_006719650.1:n.-2-12802_-2-12801insTGGGGGGG
XM_011538720.2:c.-3+7920_-3+7921insTGGGGGGG	XP_011537022.1:n.-3+7920_-3+7921insTGGGGGGG
XM_024449178.1:c.67+12647_67+12648insTGGGGGGG	XP_024304946.1:n.67+12647_67+12648insTGGGGGGG
NM_000376.3:c.-83-9143_-83-9142insTGGGGGGG MANE Select	NP_000367.1:n.-83-9143_-83-9142insTGGGGGGG
NM_001017535.2:c.-84+7920_-84+7921insTGGGGGGG	NP_001017535.1:n.-84+7920_-84+7921insTGGGGGGG
NM_001017536.2:c.68-9143_68-9142insTGGGGGGG	NP_001017536.1:n.68-9143_68-9142insTGGGGGGG
NM_001364085.2:c.-83-9143_-83-9142insTGGGGGGG	NP_001351014.1:n.-83-9143_-83-9142insTGGGGGGG
NM_001374661.1:c.-3+7920_-3+7921insTGGGGGGG	NP_001361590.1:n.-3+7920_-3+7921insTGGGGGGG
NM_001374662.1:c.-2-12802_-2-12801insTGGGGGGG	NP_001361591.1:n.-2-12802_-2-12801insTGGGGGGG