Canonical Allele Identifier: CA604841432

Gene: VDR

Linked Data

• gnomAD v2: 12-48285678-A-ACCCC
• gnomAD v3: 12-47891895-A-ACCCC
• gnomAD v4: 12-47891895-A-ACCCC
• MyVariant Identifiers: chr12:g.48285678_48285679insCCCC (hg19) ; chr12:g.47891895_47891896insCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47891897_47891898insCCCC , CM000674.2:g.47891897_47891898insCCCC	GRCh38
NC_000012.11:g.48285680_48285681insCCCC , CM000674.1:g.48285680_48285681insCCCC	GRCh37
NC_000012.10:g.46571947_46571948insCCCC	NCBI36
NG_008731.1:g.18136_18137insGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549336.6:c.-83-9122_-83-9121insGGGG MANE Select	ENSP00000449573.2:n.-83-9122_-83-9121insGGGG
ENST00000229022.7:c.-84+7941_-84+7942insGGGG	ENSP00000229022.3:n.-84+7941_-84+7942insGGGG
ENST00000395324.6:c.-83-9122_-83-9121insGGGG	ENSP00000378734.2:n.-83-9122_-83-9121insGGGG
ENST00000546653.5:c.-3+7941_-3+7942insGGGG	ENSP00000448659.1:n.-3+7941_-3+7942insGGGG
ENST00000547065.1:c.-2-12781_-2-12780insGGGG	ENSP00000449074.1:n.-2-12781_-2-12780insGGGG
ENST00000548664.1:c.-84+7941_-84+7942insGGGG	ENSP00000450105.1:n.-84+7941_-84+7942insGGGG
ENST00000549336.5:c.-83-9122_-83-9121insGGGG	ENSP00000449573.1:n.-83-9122_-83-9121insGGGG
ENST00000550325.5:c.68-9122_68-9121insGGGG	ENSP00000447173.1:n.68-9122_68-9121insGGGG
NM_000376.2:c.-83-9122_-83-9121insGGGG	NP_000367.1:n.-83-9122_-83-9121insGGGG
NM_001017535.1:c.-84+7941_-84+7942insGGGG	NP_001017535.1:n.-84+7941_-84+7942insGGGG
NM_001017536.1:c.68-9122_68-9121insGGGG	NP_001017536.1:n.68-9122_68-9121insGGGG
XM_006719587.2:c.-2-12781_-2-12780insGGGG	XP_006719650.1:n.-2-12781_-2-12780insGGGG
XM_011538720.1:c.-3+7941_-3+7942insGGGG	XP_011537022.1:n.-3+7941_-3+7942insGGGG
NM_001364085.1:c.-83-9122_-83-9121insGGGG	NP_001351014.1:n.-83-9122_-83-9121insGGGG
XM_006719587.3:c.-2-12781_-2-12780insGGGG	XP_006719650.1:n.-2-12781_-2-12780insGGGG
XM_011538720.2:c.-3+7941_-3+7942insGGGG	XP_011537022.1:n.-3+7941_-3+7942insGGGG
XM_024449178.1:c.67+12668_67+12669insGGGG	XP_024304946.1:n.67+12668_67+12669insGGGG
NM_000376.3:c.-83-9122_-83-9121insGGGG MANE Select	NP_000367.1:n.-83-9122_-83-9121insGGGG
NM_001017535.2:c.-84+7941_-84+7942insGGGG	NP_001017535.1:n.-84+7941_-84+7942insGGGG
NM_001017536.2:c.68-9122_68-9121insGGGG	NP_001017536.1:n.68-9122_68-9121insGGGG
NM_001364085.2:c.-83-9122_-83-9121insGGGG	NP_001351014.1:n.-83-9122_-83-9121insGGGG
NM_001374661.1:c.-3+7941_-3+7942insGGGG	NP_001361590.1:n.-3+7941_-3+7942insGGGG
NM_001374662.1:c.-2-12781_-2-12780insGGGG	NP_001361591.1:n.-2-12781_-2-12780insGGGG