Canonical Allele Identifier: CA2580085458
Gene: VDR HGNC NCBI

Linked Data

ClinVar Variation Id: 1909890
ClinVar RCV Id: RCV002587605
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47879111_47879112delinsTG , CM000674.2:g.47879111_47879112delinsTG GRCh38
NC_000012.11:g.48272894_48272895delinsTG , CM000674.1:g.48272894_48272895delinsTG GRCh37
NC_000012.10:g.46559161_46559162delinsTG NCBI36
NG_008731.1:g.30920_30921delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000229022.9:c.2_3delinsCA ENSP00000229022.5:p.Met1Thr
ENST00000549336.6:c.2_3delinsCA MANE Select ENSP00000449573.2:p.Met1Thr
ENST00000229022.7:c.2_3delinsCA ENSP00000229022.3:p.Met1Thr
ENST00000395324.6:c.2_3delinsCA ENSP00000378734.2:p.Met1Thr
ENST00000546653.5:c.2_3delinsCA ENSP00000448659.1:p.Met1Thr
ENST00000547065.1:c.2_3delinsCA ENSP00000449074.1:p.Met1Thr
ENST00000548664.1:c.2_3delinsCA ENSP00000450105.1:p.Met1Thr
ENST00000549336.5:c.2_3delinsCA ENSP00000449573.1:p.Met1Thr
ENST00000550314.5:c.2_3delinsCA ENSP00000449561.1:p.Met1Thr
ENST00000550325.5:c.152_153delinsCA ENSP00000447173.1:p.Met51Thr
NM_000376.2:c.2_3delinsCA NP_000367.1:p.Met1Thr
NM_001017535.1:c.2_3delinsCA NP_001017535.1:p.Met1Thr
NM_001017536.1:c.152_153delinsCA NP_001017536.1:p.Met51Thr
XM_006719587.2:c.2_3delinsCA XP_006719650.1:p.Met1Thr
XM_011538720.1:c.2_3delinsCA XP_011537022.1:p.Met1Thr
NM_001364085.1:c.2_3delinsCA NP_001351014.1:p.Met1Thr
XM_006719587.3:c.2_3delinsCA XP_006719650.1:p.Met1Thr
XM_011538720.2:c.2_3delinsCA XP_011537022.1:p.Met1Thr
XM_024449178.1:c.71_72delinsCA XP_024304946.1:p.Met24Thr
NM_000376.3:c.2_3delinsCA MANE Select NP_000367.1:p.Met1Thr
NM_001017535.2:c.2_3delinsCA NP_001017535.1:p.Met1Thr
NM_001017536.2:c.152_153delinsCA NP_001017536.1:p.Met51Thr
NM_001364085.2:c.2_3delinsCA NP_001351014.1:p.Met1Thr
NM_001374661.1:c.2_3delinsCA NP_001361590.1:p.Met1Thr
NM_001374662.1:c.2_3delinsCA NP_001361591.1:p.Met1Thr
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