Canonical Allele Identifier: CA236506747

Gene: VDR

Linked Data

• dbSNP Id: rs960119318
• MyVariant Identifiers: chr12:g.48239129_48239130del (hg19) ; chr12:g.47845346_47845347del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47845346_47845347del , CM000674.2:g.47845346_47845347del	GRCh38
NC_000012.11:g.48239129_48239130del , CM000674.1:g.48239129_48239130del	GRCh37
NC_000012.10:g.46525396_46525397del	NCBI36
NG_008731.1:g.64685_64686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1025-342_1025-341del	ENSP00000229022.5:n.1025-342_1025-341del
ENST00000549336.6:c.1025-342_1025-341del MANE Select	ENSP00000449573.2:n.1025-342_1025-341del
ENST00000229022.7:c.1025-342_1025-341del	ENSP00000229022.3:n.1025-342_1025-341del
ENST00000395324.6:c.1025-342_1025-341del	ENSP00000378734.2:n.1025-342_1025-341del
ENST00000547065.1:c.*1027-342_*1027-341del	ENSP00000449074.1:n.*1027-342_*1027-341del
ENST00000549336.5:c.1025-342_1025-341del	ENSP00000449573.1:n.1025-342_1025-341del
ENST00000550325.5:c.1175-342_1175-341del	ENSP00000447173.1:n.1175-342_1175-341del
NM_000376.2:c.1025-342_1025-341del	NP_000367.1:n.1025-342_1025-341del
NM_001017535.1:c.1025-342_1025-341del	NP_001017535.1:n.1025-342_1025-341del
NM_001017536.1:c.1175-342_1175-341del	NP_001017536.1:n.1175-342_1175-341del
XM_006719587.2:c.1025-342_1025-341del	XP_006719650.1:n.1025-342_1025-341del
XM_011538720.1:c.1025-342_1025-341del	XP_011537022.1:n.1025-342_1025-341del
NM_001364085.1:c.1025-342_1025-341del	NP_001351014.1:n.1025-342_1025-341del
XM_006719587.3:c.1025-342_1025-341del	XP_006719650.1:n.1025-342_1025-341del
XM_011538720.2:c.1025-342_1025-341del	XP_011537022.1:n.1025-342_1025-341del
XM_024449178.1:c.1094-342_1094-341del	XP_024304946.1:n.1094-342_1094-341del
NM_000376.3:c.1025-342_1025-341del MANE Select	NP_000367.1:n.1025-342_1025-341del
NM_001017535.2:c.1025-342_1025-341del	NP_001017535.1:n.1025-342_1025-341del
NM_001017536.2:c.1175-342_1175-341del	NP_001017536.1:n.1175-342_1175-341del
NM_001364085.2:c.1025-342_1025-341del	NP_001351014.1:n.1025-342_1025-341del
NM_001374661.1:c.1025-342_1025-341del	NP_001361590.1:n.1025-342_1025-341del
NM_001374662.1:c.1025-342_1025-341del	NP_001361591.1:n.1025-342_1025-341del