Canonical Allele Identifier: CA2034437586
Gene: VDR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47891976_47891986delinsTCAGGAGGTGG , CM000674.2:g.47891976_47891986delinsTCAGGAGGTGG GRCh38
NC_000012.11:g.48285759_48285769delinsTCAGGAGGTGG , CM000674.1:g.48285759_48285769delinsTCAGGAGGTGG GRCh37
NC_000012.10:g.46572026_46572036delinsTCAGGAGGTGG NCBI36
NG_008731.1:g.18046_18056delinsCCACCTCCTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000549336.6:c.-83-9212_-83-9202delinsCCACCTCCTGA MANE Select ENSP00000449573.2:n.-83-9212_-83-9202delinsCCACCTCCTGA
ENST00000229022.7:c.-84+7851_-84+7861delinsCCACCTCCTGA ENSP00000229022.3:n.-84+7851_-84+7861delinsCCACCTCCTGA
ENST00000395324.6:c.-83-9212_-83-9202delinsCCACCTCCTGA ENSP00000378734.2:n.-83-9212_-83-9202delinsCCACCTCCTGA
ENST00000546653.5:c.-3+7851_-3+7861delinsCCACCTCCTGA ENSP00000448659.1:n.-3+7851_-3+7861delinsCCACCTCCTGA
ENST00000547065.1:c.-2-12871_-2-12861delinsCCACCTCCTGA ENSP00000449074.1:n.-2-12871_-2-12861delinsCCACCTCCTGA
ENST00000548664.1:c.-84+7851_-84+7861delinsCCACCTCCTGA ENSP00000450105.1:n.-84+7851_-84+7861delinsCCACCTCCTGA
ENST00000549336.5:c.-83-9212_-83-9202delinsCCACCTCCTGA ENSP00000449573.1:n.-83-9212_-83-9202delinsCCACCTCCTGA
ENST00000550325.5:c.68-9212_68-9202delinsCCACCTCCTGA ENSP00000447173.1:n.68-9212_68-9202delinsCCACCTCCTGA
NM_000376.2:c.-83-9212_-83-9202delinsCCACCTCCTGA NP_000367.1:n.-83-9212_-83-9202delinsCCACCTCCTGA
NM_001017535.1:c.-84+7851_-84+7861delinsCCACCTCCTGA NP_001017535.1:n.-84+7851_-84+7861delinsCCACCTCCTGA
NM_001017536.1:c.68-9212_68-9202delinsCCACCTCCTGA NP_001017536.1:n.68-9212_68-9202delinsCCACCTCCTGA
XM_006719587.2:c.-2-12871_-2-12861delinsCCACCTCCTGA XP_006719650.1:n.-2-12871_-2-12861delinsCCACCTCCTGA
XM_011538720.1:c.-3+7851_-3+7861delinsCCACCTCCTGA XP_011537022.1:n.-3+7851_-3+7861delinsCCACCTCCTGA
NM_001364085.1:c.-83-9212_-83-9202delinsCCACCTCCTGA NP_001351014.1:n.-83-9212_-83-9202delinsCCACCTCCTGA
XM_006719587.3:c.-2-12871_-2-12861delinsCCACCTCCTGA XP_006719650.1:n.-2-12871_-2-12861delinsCCACCTCCTGA
XM_011538720.2:c.-3+7851_-3+7861delinsCCACCTCCTGA XP_011537022.1:n.-3+7851_-3+7861delinsCCACCTCCTGA
XM_024449178.1:c.67+12578_67+12588delinsCCACCTCCTGA XP_024304946.1:n.67+12578_67+12588delinsCCACCTCCTGA
NM_000376.3:c.-83-9212_-83-9202delinsCCACCTCCTGA MANE Select NP_000367.1:n.-83-9212_-83-9202delinsCCACCTCCTGA
NM_001017535.2:c.-84+7851_-84+7861delinsCCACCTCCTGA NP_001017535.1:n.-84+7851_-84+7861delinsCCACCTCCTGA
NM_001017536.2:c.68-9212_68-9202delinsCCACCTCCTGA NP_001017536.1:n.68-9212_68-9202delinsCCACCTCCTGA
NM_001364085.2:c.-83-9212_-83-9202delinsCCACCTCCTGA NP_001351014.1:n.-83-9212_-83-9202delinsCCACCTCCTGA
NM_001374661.1:c.-3+7851_-3+7861delinsCCACCTCCTGA NP_001361590.1:n.-3+7851_-3+7861delinsCCACCTCCTGA
NM_001374662.1:c.-2-12871_-2-12861delinsCCACCTCCTGA NP_001361591.1:n.-2-12871_-2-12861delinsCCACCTCCTGA