Canonical Allele Identifier: CA2515740177
Gene: VDR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47891888_47891889insCCCCCC , CM000674.2:g.47891888_47891889insCCCCCC GRCh38
NC_000012.11:g.48285671_48285672insCCCCCC , CM000674.1:g.48285671_48285672insCCCCCC GRCh37
NC_000012.10:g.46571938_46571939insCCCCCC NCBI36
NG_008731.1:g.18144_18145insGGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000549336.6:c.-83-9114_-83-9113insGGGGGG MANE Select ENSP00000449573.2:n.-83-9114_-83-9113insGGGGGG
ENST00000229022.7:c.-84+7949_-84+7950insGGGGGG ENSP00000229022.3:n.-84+7949_-84+7950insGGGGGG
ENST00000395324.6:c.-83-9114_-83-9113insGGGGGG ENSP00000378734.2:n.-83-9114_-83-9113insGGGGGG
ENST00000546653.5:c.-3+7949_-3+7950insGGGGGG ENSP00000448659.1:n.-3+7949_-3+7950insGGGGGG
ENST00000547065.1:c.-2-12773_-2-12772insGGGGGG ENSP00000449074.1:n.-2-12773_-2-12772insGGGGGG
ENST00000548664.1:c.-84+7949_-84+7950insGGGGGG ENSP00000450105.1:n.-84+7949_-84+7950insGGGGGG
ENST00000549336.5:c.-83-9114_-83-9113insGGGGGG ENSP00000449573.1:n.-83-9114_-83-9113insGGGGGG
ENST00000550325.5:c.68-9114_68-9113insGGGGGG ENSP00000447173.1:n.68-9114_68-9113insGGGGGG
NM_000376.2:c.-83-9114_-83-9113insGGGGGG NP_000367.1:n.-83-9114_-83-9113insGGGGGG
NM_001017535.1:c.-84+7949_-84+7950insGGGGGG NP_001017535.1:n.-84+7949_-84+7950insGGGGGG
NM_001017536.1:c.68-9114_68-9113insGGGGGG NP_001017536.1:n.68-9114_68-9113insGGGGGG
XM_006719587.2:c.-2-12773_-2-12772insGGGGGG XP_006719650.1:n.-2-12773_-2-12772insGGGGGG
XM_011538720.1:c.-3+7949_-3+7950insGGGGGG XP_011537022.1:n.-3+7949_-3+7950insGGGGGG
NM_001364085.1:c.-83-9114_-83-9113insGGGGGG NP_001351014.1:n.-83-9114_-83-9113insGGGGGG
XM_006719587.3:c.-2-12773_-2-12772insGGGGGG XP_006719650.1:n.-2-12773_-2-12772insGGGGGG
XM_011538720.2:c.-3+7949_-3+7950insGGGGGG XP_011537022.1:n.-3+7949_-3+7950insGGGGGG
XM_024449178.1:c.67+12676_67+12677insGGGGGG XP_024304946.1:n.67+12676_67+12677insGGGGGG
NM_000376.3:c.-83-9114_-83-9113insGGGGGG MANE Select NP_000367.1:n.-83-9114_-83-9113insGGGGGG
NM_001017535.2:c.-84+7949_-84+7950insGGGGGG NP_001017535.1:n.-84+7949_-84+7950insGGGGGG
NM_001017536.2:c.68-9114_68-9113insGGGGGG NP_001017536.1:n.68-9114_68-9113insGGGGGG
NM_001364085.2:c.-83-9114_-83-9113insGGGGGG NP_001351014.1:n.-83-9114_-83-9113insGGGGGG
NM_001374661.1:c.-3+7949_-3+7950insGGGGGG NP_001361590.1:n.-3+7949_-3+7950insGGGGGG
NM_001374662.1:c.-2-12773_-2-12772insGGGGGG NP_001361591.1:n.-2-12773_-2-12772insGGGGGG