Canonical Allele Identifier: CA947336708

Gene: VDR

Linked Data

• dbSNP Id: rs1945250140
• gnomAD v3: 12-47844978-A-AGC
• gnomAD v4: 12-47844978-A-AGC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844982_47844983dup , CM000674.2:g.47844982_47844983dup	GRCh38
NC_000012.11:g.48238765_48238766dup , CM000674.1:g.48238765_48238766dup	GRCh37
NC_000012.10:g.46525032_46525033dup	NCBI36
NG_008731.1:g.65052_65053dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000229022.9:c.1050_1051dup	ENSP00000229022.5:p.Leu351ArgfsTer2
ENST00000549336.6:c.1050_1051dup MANE Select	ENSP00000449573.2:p.Leu351ArgfsTer2
ENST00000229022.7:c.1050_1051dup	ENSP00000229022.3:p.Leu351ArgfsTer2
ENST00000395324.6:c.1050_1051dup	ENSP00000378734.2:p.Leu351ArgfsTer2
ENST00000547065.1:c.*1052_*1053dup	ENSP00000449074.1:n.*1052_*1053dup
ENST00000549336.5:c.1050_1051dup	ENSP00000449573.1:p.Leu351ArgfsTer2
ENST00000550325.5:c.1200_1201dup	ENSP00000447173.1:p.Leu401ArgfsTer2
NM_000376.2:c.1050_1051dup	NP_000367.1:p.Leu351ArgfsTer2
NM_001017535.1:c.1050_1051dup	NP_001017535.1:p.Leu351ArgfsTer2
NM_001017536.1:c.1200_1201dup	NP_001017536.1:p.Leu401ArgfsTer2
XM_006719587.2:c.1050_1051dup	XP_006719650.1:p.Leu351ArgfsTer2
XM_011538720.1:c.1050_1051dup	XP_011537022.1:p.Leu351ArgfsTer2
NM_001364085.1:c.1050_1051dup	NP_001351014.1:p.Leu351ArgfsTer2
XM_006719587.3:c.1050_1051dup	XP_006719650.1:p.Leu351ArgfsTer2
XM_011538720.2:c.1050_1051dup	XP_011537022.1:p.Leu351ArgfsTer2
XM_024449178.1:c.1119_1120dup	XP_024304946.1:p.Leu374ArgfsTer2
NM_000376.3:c.1050_1051dup MANE Select	NP_000367.1:p.Leu351ArgfsTer2
NM_001017535.2:c.1050_1051dup	NP_001017535.1:p.Leu351ArgfsTer2
NM_001017536.2:c.1200_1201dup	NP_001017536.1:p.Leu401ArgfsTer2
NM_001364085.2:c.1050_1051dup	NP_001351014.1:p.Leu351ArgfsTer2
NM_001374661.1:c.1050_1051dup	NP_001361590.1:p.Leu351ArgfsTer2
NM_001374662.1:c.1050_1051dup	NP_001361591.1:p.Leu351ArgfsTer2