Canonical Allele Identifier: CA2034408818

Gene: VDR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844556_47844560delinsGGGAA , CM000674.2:g.47844556_47844560delinsGGGAA	GRCh38
NC_000012.11:g.48238339_48238343delinsGGGAA , CM000674.1:g.48238339_48238343delinsGGGAA	GRCh37
NC_000012.10:g.46524606_46524610delinsGGGAA	NCBI36
NG_008731.1:g.65472_65476delinsTTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1470_1474delinsTTCCC	ENSP00000229022.5:p.Phe490=
ENST00000549336.6:c.*186_*190delinsTTCCC MANE Select	ENSP00000449573.2:n.*186_*190delinsTTCCC
ENST00000229022.7:c.*186_*190delinsTTCCC	ENSP00000229022.3:n.*186_*190delinsTTCCC
ENST00000395324.6:c.*186_*190delinsTTCCC	ENSP00000378734.2:n.*186_*190delinsTTCCC
ENST00000547065.1:c.*1472_*1476delinsTTCCC	ENSP00000449074.1:n.*1472_*1476delinsTTCCC
ENST00000549336.5:c.*186_*190delinsTTCCC	ENSP00000449573.1:n.*186_*190delinsTTCCC
ENST00000550325.5:c.*186_*190delinsTTCCC	ENSP00000447173.1:n.*186_*190delinsTTCCC
NM_000376.2:c.*186_*190delinsTTCCC	NP_000367.1:n.*186_*190delinsTTCCC
NM_001017535.1:c.*186_*190delinsTTCCC	NP_001017535.1:n.*186_*190delinsTTCCC
NM_001017536.1:c.*186_*190delinsTTCCC	NP_001017536.1:n.*186_*190delinsTTCCC
XM_006719587.2:c.*186_*190delinsTTCCC	XP_006719650.1:n.*186_*190delinsTTCCC
XM_011538720.1:c.*186_*190delinsTTCCC	XP_011537022.1:n.*186_*190delinsTTCCC
NM_001364085.1:c.1470_1474delinsTTCCC	NP_001351014.1:p.Phe490=
NM_000376.3:c.*186_*190delinsTTCCC MANE Select	NP_000367.1:n.*186_*190delinsTTCCC
NM_001017535.2:c.*186_*190delinsTTCCC	NP_001017535.1:n.*186_*190delinsTTCCC
NM_001017536.2:c.*186_*190delinsTTCCC	NP_001017536.1:n.*186_*190delinsTTCCC
NM_001364085.2:c.1470_1474delinsTTCCC	NP_001351014.1:p.Phe490=
NM_001374661.1:c.*186_*190delinsTTCCC	NP_001361590.1:n.*186_*190delinsTTCCC
NM_001374662.1:c.*186_*190delinsTTCCC	NP_001361591.1:n.*186_*190delinsTTCCC