Canonical Allele Identifier: CA645529518

Gene: VHL

Linked Data

• COSMIC: COSM18119

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149848_10149852del , CM000665.2:g.10149848_10149852del	GRCh38
NC_000003.11:g.10191532_10191536del , CM000665.1:g.10191532_10191536del	GRCh37
NC_000003.10:g.10166532_10166536del	NCBI36
NG_008212.3:g.13214_13218del , LRG_322:g.13214_13218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*202_*206del	ENSP00000512434.1:n.*202_*206del
ENST00000696143.1:c.661_665del	ENSP00000512435.1:n.661_665del
ENST00000696153.1:c.636_640del	ENSP00000512444.1:p.Tyr212Ter
ENST00000256474.3:c.525_529del MANE Select	ENSP00000256474.3:p.Tyr175Ter
ENST00000256474.2:c.525_529del	ENSP00000256474.2:p.Tyr175Ter
ENST00000345392.2:c.402_406del	ENSP00000344757.2:p.Tyr134Ter
ENST00000477538.1:n.661_665del
NM_000551.3:c.525_529del , LRG_322t1:c.525_529del	NP_000542.1:p.Tyr175Ter
NM_198156.2:c.402_406del	NP_937799.1:p.Tyr134Ter
NM_001354723.1:c.*79_*83del	NP_001341652.1:n.*79_*83del
NM_000551.4:c.525_529del MANE Select	NP_000542.1:p.Tyr175Ter
NM_001354723.2:c.*79_*83del	NP_001341652.1:n.*79_*83del
NM_198156.3:c.402_406del	NP_937799.1:p.Tyr134Ter