Canonical Allele Identifier: CA654727641

Gene: VDR

Linked Data

• COSMIC: COSN17078552

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844567_47844568insA , CM000674.2:g.47844567_47844568insA	GRCh38
NC_000012.11:g.48238350_48238351insA , CM000674.1:g.48238350_48238351insA	GRCh37
NC_000012.10:g.46524617_46524618insA	NCBI36
NG_008731.1:g.65464_65465insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1462_1463insT	ENSP00000229022.5:p.Ala488ValfsTer13
ENST00000549336.6:c.*178_*179insT MANE Select	ENSP00000449573.2:n.*178_*179insT
ENST00000229022.7:c.*178_*179insT	ENSP00000229022.3:n.*178_*179insT
ENST00000395324.6:c.*178_*179insT	ENSP00000378734.2:n.*178_*179insT
ENST00000547065.1:c.*1464_*1465insT	ENSP00000449074.1:n.*1464_*1465insT
ENST00000549336.5:c.*178_*179insT	ENSP00000449573.1:n.*178_*179insT
ENST00000550325.5:c.*178_*179insT	ENSP00000447173.1:n.*178_*179insT
NM_000376.2:c.*178_*179insT	NP_000367.1:n.*178_*179insT
NM_001017535.1:c.*178_*179insT	NP_001017535.1:n.*178_*179insT
NM_001017536.1:c.*178_*179insT	NP_001017536.1:n.*178_*179insT
XM_006719587.2:c.*178_*179insT	XP_006719650.1:n.*178_*179insT
XM_011538720.1:c.*178_*179insT	XP_011537022.1:n.*178_*179insT
NM_001364085.1:c.1462_1463insT	NP_001351014.1:p.Ala488ValfsTer13
NM_000376.3:c.*178_*179insT MANE Select	NP_000367.1:n.*178_*179insT
NM_001017535.2:c.*178_*179insT	NP_001017535.1:n.*178_*179insT
NM_001017536.2:c.*178_*179insT	NP_001017536.1:n.*178_*179insT
NM_001364085.2:c.1462_1463insT	NP_001351014.1:p.Ala488ValfsTer13
NM_001374661.1:c.*178_*179insT	NP_001361590.1:n.*178_*179insT
NM_001374662.1:c.*178_*179insT	NP_001361591.1:n.*178_*179insT