Canonical Allele Identifier: CA6533771

Gene: VDR

Linked Data

• dbSNP Id: rs759772704
• ExAC: 12:48238791 G / GGGGAGACGATGCAGA
• MyVariant Identifiers: chr12:g.48238791_48238792insGGGAGACGATGCAGA (hg19) ; chr12:g.47845008_47845009insGGGAGACGATGCAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47845008_47845009insGGGAGACGATGCAGA , CM000674.2:g.47845008_47845009insGGGAGACGATGCAGA	GRCh38
NC_000012.11:g.48238791_48238792insGGGAGACGATGCAGA , CM000674.1:g.48238791_48238792insGGGAGACGATGCAGA	GRCh37
NC_000012.10:g.46525058_46525059insGGGAGACGATGCAGA	NCBI36
NG_008731.1:g.65023_65024insTCTGCATCGTCTCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000229022.9:c.1025-4_1025-3insTCTGCATCGTCTCCC	ENSP00000229022.5:n.1025-4_1025-3insTCTGC...
ENST00000549336.6:c.1025-4_1025-3insTCTGCATCGTCTCCC MANE Select	ENSP00000449573.2:n.1025-4_1025-3insTCTGC...
ENST00000229022.7:c.1025-4_1025-3insTCTGCATCGTCTCCC	ENSP00000229022.3:n.1025-4_1025-3insTCTGC...
ENST00000395324.6:c.1025-4_1025-3insTCTGCATCGTCTCCC	ENSP00000378734.2:n.1025-4_1025-3insTCTGC...
ENST00000547065.1:c.*1027-4_*1027-3insTCTGCATCGTCTCCC	ENSP00000449074.1:n.*1027-4_*1027-3insTCT...
ENST00000549336.5:c.1025-4_1025-3insTCTGCATCGTCTCCC	ENSP00000449573.1:n.1025-4_1025-3insTCTGC...
ENST00000550325.5:c.1175-4_1175-3insTCTGCATCGTCTCCC	ENSP00000447173.1:n.1175-4_1175-3insTCTGC...
NM_000376.2:c.1025-4_1025-3insTCTGCATCGTCTCCC	NP_000367.1:n.1025-4_1025-3insTCTGCATCGTC...
NM_001017535.1:c.1025-4_1025-3insTCTGCATCGTCTCCC	NP_001017535.1:n.1025-4_1025-3insTCTGCATC...
NM_001017536.1:c.1175-4_1175-3insTCTGCATCGTCTCCC	NP_001017536.1:n.1175-4_1175-3insTCTGCATC...
XM_006719587.2:c.1025-4_1025-3insTCTGCATCGTCTCCC	XP_006719650.1:n.1025-4_1025-3insTCTGCATC...
XM_011538720.1:c.1025-4_1025-3insTCTGCATCGTCTCCC	XP_011537022.1:n.1025-4_1025-3insTCTGCATC...
NM_001364085.1:c.1025-4_1025-3insTCTGCATCGTCTCCC	NP_001351014.1:n.1025-4_1025-3insTCTGCATC...
XM_006719587.3:c.1025-4_1025-3insTCTGCATCGTCTCCC	XP_006719650.1:n.1025-4_1025-3insTCTGCATC...
XM_011538720.2:c.1025-4_1025-3insTCTGCATCGTCTCCC	XP_011537022.1:n.1025-4_1025-3insTCTGCATC...
XM_024449178.1:c.1094-4_1094-3insTCTGCATCGTCTCCC	XP_024304946.1:n.1094-4_1094-3insTCTGCATC...
NM_000376.3:c.1025-4_1025-3insTCTGCATCGTCTCCC MANE Select	NP_000367.1:n.1025-4_1025-3insTCTGCATCGTC...
NM_001017535.2:c.1025-4_1025-3insTCTGCATCGTCTCCC	NP_001017535.1:n.1025-4_1025-3insTCTGCATC...
NM_001017536.2:c.1175-4_1175-3insTCTGCATCGTCTCCC	NP_001017536.1:n.1175-4_1175-3insTCTGCATC...
NM_001364085.2:c.1025-4_1025-3insTCTGCATCGTCTCCC	NP_001351014.1:n.1025-4_1025-3insTCTGCATC...
NM_001374661.1:c.1025-4_1025-3insTCTGCATCGTCTCCC	NP_001361590.1:n.1025-4_1025-3insTCTGCATC...
NM_001374662.1:c.1025-4_1025-3insTCTGCATCGTCTCCC	NP_001361591.1:n.1025-4_1025-3insTCTGCATC...