Canonical Allele Identifier: CA645529532

Gene: VHL

Linked Data

• COSMIC: COSM249375

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149864_10149870del , CM000665.2:g.10149864_10149870del	GRCh38
NC_000003.11:g.10191548_10191554del , CM000665.1:g.10191548_10191554del	GRCh37
NC_000003.10:g.10166548_10166554del	NCBI36
NG_008212.3:g.13230_13236del , LRG_322:g.13230_13236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*218_*224del	ENSP00000512434.1:n.*218_*224del
ENST00000696143.1:c.677_683del	ENSP00000512435.1:n.677_683del
ENST00000696153.1:c.652_658del	ENSP00000512444.1:p.Val218ArgfsTer19
ENST00000256474.3:c.541_547del MANE Select	ENSP00000256474.3:p.Val181ArgfsTer19
ENST00000256474.2:c.541_547del	ENSP00000256474.2:p.Val181ArgfsTer19
ENST00000345392.2:c.418_424del	ENSP00000344757.2:p.Val140ArgfsTer19
ENST00000477538.1:n.677_683del
NM_000551.3:c.541_547del , LRG_322t1:c.541_547del	NP_000542.1:p.Val181ArgfsTer19
NM_198156.2:c.418_424del	NP_937799.1:p.Val140ArgfsTer19
NM_001354723.1:c.*95_*101del	NP_001341652.1:n.*95_*101del
NM_000551.4:c.541_547del MANE Select	NP_000542.1:p.Val181ArgfsTer19
NM_001354723.2:c.*95_*101del	NP_001341652.1:n.*95_*101del
NM_198156.3:c.418_424del	NP_937799.1:p.Val140ArgfsTer19