Canonical Allele Identifier: CA689458636

Gene: VDR

Linked Data

• dbSNP Id: rs1271814722
• MyVariant Identifiers: chr12:g.48286034_48286037del (hg19) ; chr12:g.47892251_47892254del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47892253_47892256del , CM000674.2:g.47892253_47892256del	GRCh38
NC_000012.11:g.48286036_48286039del , CM000674.1:g.48286036_48286039del	GRCh37
NC_000012.10:g.46572303_46572306del	NCBI36
NG_008731.1:g.17778_17781del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549336.6:c.-83-9480_-83-9477del MANE Select	ENSP00000449573.2:n.-83-9480_-83-9477del
ENST00000229022.7:c.-84+7583_-84+7586del	ENSP00000229022.3:n.-84+7583_-84+7586del
ENST00000395324.6:c.-83-9480_-83-9477del	ENSP00000378734.2:n.-83-9480_-83-9477del
ENST00000546653.5:c.-3+7583_-3+7586del	ENSP00000448659.1:n.-3+7583_-3+7586del
ENST00000547065.1:c.-3+12701_-3+12704del	ENSP00000449074.1:n.-3+12701_-3+12704del
ENST00000548664.1:c.-84+7583_-84+7586del	ENSP00000450105.1:n.-84+7583_-84+7586del
ENST00000549336.5:c.-83-9480_-83-9477del	ENSP00000449573.1:n.-83-9480_-83-9477del
ENST00000550325.5:c.68-9480_68-9477del	ENSP00000447173.1:n.68-9480_68-9477del
NM_000376.2:c.-83-9480_-83-9477del	NP_000367.1:n.-83-9480_-83-9477del
NM_001017535.1:c.-84+7583_-84+7586del	NP_001017535.1:n.-84+7583_-84+7586del
NM_001017536.1:c.68-9480_68-9477del	NP_001017536.1:n.68-9480_68-9477del
XM_006719587.2:c.-3+12701_-3+12704del	XP_006719650.1:n.-3+12701_-3+12704del
XM_011538720.1:c.-3+7583_-3+7586del	XP_011537022.1:n.-3+7583_-3+7586del
NM_001364085.1:c.-83-9480_-83-9477del	NP_001351014.1:n.-83-9480_-83-9477del
XM_006719587.3:c.-3+12701_-3+12704del	XP_006719650.1:n.-3+12701_-3+12704del
XM_011538720.2:c.-3+7583_-3+7586del	XP_011537022.1:n.-3+7583_-3+7586del
XM_024449178.1:c.67+12310_67+12313del	XP_024304946.1:n.67+12310_67+12313del
NM_000376.3:c.-83-9480_-83-9477del MANE Select	NP_000367.1:n.-83-9480_-83-9477del
NM_001017535.2:c.-84+7583_-84+7586del	NP_001017535.1:n.-84+7583_-84+7586del
NM_001017536.2:c.68-9480_68-9477del	NP_001017536.1:n.68-9480_68-9477del
NM_001364085.2:c.-83-9480_-83-9477del	NP_001351014.1:n.-83-9480_-83-9477del
NM_001374661.1:c.-3+7583_-3+7586del	NP_001361590.1:n.-3+7583_-3+7586del
NM_001374662.1:c.-3+12701_-3+12704del	NP_001361591.1:n.-3+12701_-3+12704del