Canonical Allele Identifier: CA2580068483

Gene: VHL

Linked Data

• ClinVar Variation Id: 1746298
• ClinVar RCV Id: RCV002340903

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149847_10149850del , CM000665.2:g.10149847_10149850del	GRCh38
NC_000003.11:g.10191531_10191534del , CM000665.1:g.10191531_10191534del	GRCh37
NC_000003.10:g.10166531_10166534del	NCBI36
NG_008212.3:g.13213_13216del , LRG_322:g.13213_13216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*201_*204del	ENSP00000512434.1:n.*201_*204del
ENST00000696143.1:c.660_663del	ENSP00000512435.1:n.660_663del
ENST00000696153.1:c.635_638del	ENSP00000512444.1:p.Tyr212Ter
ENST00000256474.3:c.524_527del MANE Select	ENSP00000256474.3:p.Tyr175Ter
ENST00000256474.2:c.524_527del	ENSP00000256474.2:p.Tyr175Ter
ENST00000345392.2:c.401_404del	ENSP00000344757.2:p.Tyr134Ter
ENST00000477538.1:n.660_663del
NM_000551.3:c.524_527del , LRG_322t1:c.524_527del	NP_000542.1:p.Tyr175Ter
NM_198156.2:c.401_404del	NP_937799.1:p.Tyr134Ter
NM_001354723.1:c.*78_*81del	NP_001341652.1:n.*78_*81del
NM_000551.4:c.524_527del MANE Select	NP_000542.1:p.Tyr175Ter
NM_001354723.2:c.*78_*81del	NP_001341652.1:n.*78_*81del
NM_198156.3:c.401_404del	NP_937799.1:p.Tyr134Ter