Canonical Allele Identifier: CA689458488

Gene: VDR

Linked Data

• dbSNP Id: rs1393277130
• gnomAD v3: 12-47891947-A-AG
• gnomAD v4: 12-47891947-A-AG
• MyVariant Identifiers: chr12:g.48285730_48285731insG (hg19) ; chr12:g.47891947_47891948insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47891949dup , CM000674.2:g.47891949dup	GRCh38
NC_000012.11:g.48285732dup , CM000674.1:g.48285732dup	GRCh37
NC_000012.10:g.46571999dup	NCBI36
NG_008731.1:g.18084dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549336.6:c.-83-9174dup MANE Select	ENSP00000449573.2:n.-83-9174dup
ENST00000229022.7:c.-84+7889dup	ENSP00000229022.3:n.-84+7889dup
ENST00000395324.6:c.-83-9174dup	ENSP00000378734.2:n.-83-9174dup
ENST00000546653.5:c.-3+7889dup	ENSP00000448659.1:n.-3+7889dup
ENST00000547065.1:c.-2-12833dup	ENSP00000449074.1:n.-2-12833dup
ENST00000548664.1:c.-84+7889dup	ENSP00000450105.1:n.-84+7889dup
ENST00000549336.5:c.-83-9174dup	ENSP00000449573.1:n.-83-9174dup
ENST00000550325.5:c.68-9174dup	ENSP00000447173.1:n.68-9174dup
NM_000376.2:c.-83-9174dup	NP_000367.1:n.-83-9174dup
NM_001017535.1:c.-84+7889dup	NP_001017535.1:n.-84+7889dup
NM_001017536.1:c.68-9174dup	NP_001017536.1:n.68-9174dup
XM_006719587.2:c.-2-12833dup	XP_006719650.1:n.-2-12833dup
XM_011538720.1:c.-3+7889dup	XP_011537022.1:n.-3+7889dup
NM_001364085.1:c.-83-9174dup	NP_001351014.1:n.-83-9174dup
XM_006719587.3:c.-2-12833dup	XP_006719650.1:n.-2-12833dup
XM_011538720.2:c.-3+7889dup	XP_011537022.1:n.-3+7889dup
XM_024449178.1:c.67+12616dup	XP_024304946.1:n.67+12616dup
NM_000376.3:c.-83-9174dup MANE Select	NP_000367.1:n.-83-9174dup
NM_001017535.2:c.-84+7889dup	NP_001017535.1:n.-84+7889dup
NM_001017536.2:c.68-9174dup	NP_001017536.1:n.68-9174dup
NM_001364085.2:c.-83-9174dup	NP_001351014.1:n.-83-9174dup
NM_001374661.1:c.-3+7889dup	NP_001361590.1:n.-3+7889dup
NM_001374662.1:c.-2-12833dup	NP_001361591.1:n.-2-12833dup