Canonical Allele Identifier: CA689460477

Gene: VDR

Linked Data

• dbSNP Id: rs1198279499
• MyVariant Identifiers: chr12:g.48238681_48238683del (hg19) ; chr12:g.47844898_47844900del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844900_47844902del , CM000674.2:g.47844900_47844902del	GRCh38
NC_000012.11:g.48238683_48238685del , CM000674.1:g.48238683_48238685del	GRCh37
NC_000012.10:g.46524950_46524952del	NCBI36
NG_008731.1:g.65132_65134del

Transcript Alleles

HGVS	Amino-acid change
ENST00000229022.9:c.1130_1132del	ENSP00000229022.5:p.His377del
ENST00000549336.6:c.1130_1132del MANE Select	ENSP00000449573.2:p.His377del
ENST00000229022.7:c.1130_1132del	ENSP00000229022.3:p.His377del
ENST00000395324.6:c.1130_1132del	ENSP00000378734.2:p.His377del
ENST00000547065.1:c.*1132_*1134del	ENSP00000449074.1:n.*1132_*1134del
ENST00000549336.5:c.1130_1132del	ENSP00000449573.1:p.His377del
ENST00000550325.5:c.1280_1282del	ENSP00000447173.1:p.His427del
NM_000376.2:c.1130_1132del	NP_000367.1:p.His377del
NM_001017535.1:c.1130_1132del	NP_001017535.1:p.His377del
NM_001017536.1:c.1280_1282del	NP_001017536.1:p.His427del
XM_006719587.2:c.1130_1132del	XP_006719650.1:p.His377del
XM_011538720.1:c.1130_1132del	XP_011537022.1:p.His377del
NM_001364085.1:c.1130_1132del	NP_001351014.1:p.His377del
XM_006719587.3:c.1130_1132del	XP_006719650.1:p.His377del
XM_011538720.2:c.1130_1132del	XP_011537022.1:p.His377del
XM_024449178.1:c.1199_1201del	XP_024304946.1:p.His400del
NM_000376.3:c.1130_1132del MANE Select	NP_000367.1:p.His377del
NM_001017535.2:c.1130_1132del	NP_001017535.1:p.His377del
NM_001017536.2:c.1280_1282del	NP_001017536.1:p.His427del
NM_001364085.2:c.1130_1132del	NP_001351014.1:p.His377del
NM_001374661.1:c.1130_1132del	NP_001361590.1:p.His377del
NM_001374662.1:c.1130_1132del	NP_001361591.1:p.His377del