Canonical Allele Identifier: CA604841416

Gene: VDR

Linked Data

• gnomAD v2: 12-48285647-CGCTG-C
• gnomAD v3: 12-47891864-CGCTG-C
• gnomAD v4: 12-47891864-CGCTG-C
• MyVariant Identifiers: chr12:g.48285648_48285651del (hg19) ; chr12:g.47891865_47891868del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47891865_47891868del , CM000674.2:g.47891865_47891868del	GRCh38
NC_000012.11:g.48285648_48285651del , CM000674.1:g.48285648_48285651del	GRCh37
NC_000012.10:g.46571915_46571918del	NCBI36
NG_008731.1:g.18164_18167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549336.6:c.-83-9094_-83-9091del MANE Select	ENSP00000449573.2:n.-83-9094_-83-9091del
ENST00000229022.7:c.-84+7969_-84+7972del	ENSP00000229022.3:n.-84+7969_-84+7972del
ENST00000395324.6:c.-83-9094_-83-9091del	ENSP00000378734.2:n.-83-9094_-83-9091del
ENST00000546653.5:c.-3+7969_-3+7972del	ENSP00000448659.1:n.-3+7969_-3+7972del
ENST00000547065.1:c.-2-12753_-2-12750del	ENSP00000449074.1:n.-2-12753_-2-12750del
ENST00000548664.1:c.-84+7969_-84+7972del	ENSP00000450105.1:n.-84+7969_-84+7972del
ENST00000549336.5:c.-83-9094_-83-9091del	ENSP00000449573.1:n.-83-9094_-83-9091del
ENST00000550325.5:c.68-9094_68-9091del	ENSP00000447173.1:n.68-9094_68-9091del
NM_000376.2:c.-83-9094_-83-9091del	NP_000367.1:n.-83-9094_-83-9091del
NM_001017535.1:c.-84+7969_-84+7972del	NP_001017535.1:n.-84+7969_-84+7972del
NM_001017536.1:c.68-9094_68-9091del	NP_001017536.1:n.68-9094_68-9091del
XM_006719587.2:c.-2-12753_-2-12750del	XP_006719650.1:n.-2-12753_-2-12750del
XM_011538720.1:c.-3+7969_-3+7972del	XP_011537022.1:n.-3+7969_-3+7972del
NM_001364085.1:c.-83-9094_-83-9091del	NP_001351014.1:n.-83-9094_-83-9091del
XM_006719587.3:c.-2-12753_-2-12750del	XP_006719650.1:n.-2-12753_-2-12750del
XM_011538720.2:c.-3+7969_-3+7972del	XP_011537022.1:n.-3+7969_-3+7972del
XM_024449178.1:c.67+12696_67+12699del	XP_024304946.1:n.67+12696_67+12699del
NM_000376.3:c.-83-9094_-83-9091del MANE Select	NP_000367.1:n.-83-9094_-83-9091del
NM_001017535.2:c.-84+7969_-84+7972del	NP_001017535.1:n.-84+7969_-84+7972del
NM_001017536.2:c.68-9094_68-9091del	NP_001017536.1:n.68-9094_68-9091del
NM_001364085.2:c.-83-9094_-83-9091del	NP_001351014.1:n.-83-9094_-83-9091del
NM_001374661.1:c.-3+7969_-3+7972del	NP_001361590.1:n.-3+7969_-3+7972del
NM_001374662.1:c.-2-12753_-2-12750del	NP_001361591.1:n.-2-12753_-2-12750del