Canonical Allele Identifier: CA2697559199

Gene: VDR

Linked Data

• ClinVar Variation Id: 2697799
• ClinVar RCV Id: RCV003551451

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844080_47844853del , CM000674.2:g.47844080_47844853del	GRCh38
NC_000012.11:g.48237863_48238636del , CM000674.1:g.48237863_48238636del	GRCh37
NC_000012.10:g.46524130_46524903del	NCBI36
NG_008731.1:g.65183_65956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1181_*469del	ENSP00000229022.5:n.[c.1181_*469del;Asn394ThrfsTer?]
ENST00000549336.6:c.1181_*670del MANE Select	ENSP00000449573.2:n.[c.1181_*670del;Asn394ThrfsTer?]
ENST00000229022.7:c.1181_*670del	ENSP00000229022.3:n.[c.1181_*670del;Asn394ThrfsTer?]
ENST00000395324.6:c.1181_*670del	ENSP00000378734.2:n.[c.1181_*670del;Asn394ThrfsTer?]
ENST00000549336.5:c.1181_*670del	ENSP00000449573.1:n.[c.1181_*670del;Asn394ThrfsTer?]
ENST00000550325.5:c.1331_*670del	ENSP00000447173.1:n.[c.1331_*670del;Asn444ThrfsTer?]
NM_000376.2:c.1181_*670del	NP_000367.1:n.[c.1181_*670del;Asn394ThrfsTer?]
NM_001017535.1:c.1181_*670del	NP_001017535.1:n.[c.1181_*670del;Asn394ThrfsTer?]
NM_001017536.1:c.1331_*670del	NP_001017536.1:n.[c.1331_*670del;Asn444ThrfsTer?]
XM_006719587.2:c.1181_*670del	XP_006719650.1:n.[c.1181_*670del;Asn394ThrfsTer?]
XM_011538720.1:c.1181_*670del	XP_011537022.1:n.[c.1181_*670del;Asn394ThrfsTer?]
NM_001364085.1:c.1181_*469del	NP_001351014.1:n.[c.1181_*469del;Asn394ThrfsTer?]
NM_000376.3:c.1181_*670del MANE Select	NP_000367.1:n.[c.1181_*670del;Asn394ThrfsTer?]
NM_001017535.2:c.1181_*670del	NP_001017535.1:n.[c.1181_*670del;Asn394ThrfsTer?]
NM_001017536.2:c.1331_*670del	NP_001017536.1:n.[c.1331_*670del;Asn444ThrfsTer?]
NM_001364085.2:c.1181_*469del	NP_001351014.1:n.[c.1181_*469del;Asn394ThrfsTer?]
NM_001374661.1:c.1181_*670del	NP_001361590.1:n.[c.1181_*670del;Asn394ThrfsTer?]
NM_001374662.1:c.1181_*670del	NP_001361591.1:n.[c.1181_*670del;Asn394ThrfsTer?]