Canonical Allele Identifier: CA645524958

Gene: VHL

Linked Data

• COSMIC: COSM17768

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146591_10146598del , CM000665.2:g.10146591_10146598del	GRCh38
NC_000003.11:g.10188275_10188282del , CM000665.1:g.10188275_10188282del	GRCh37
NC_000003.10:g.10163275_10163282del	NCBI36
NG_008212.3:g.9957_9964del , LRG_322:g.9957_9964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*95_*102del	ENSP00000512434.1:n.*95_*102del
ENST00000696143.1:c.600-3196_600-3189del	ENSP00000512435.1:n.600-3196_600-3189del
ENST00000696153.1:c.418_425del	ENSP00000512444.1:p.Leu140Ter
ENST00000256474.3:c.418_425del MANE Select	ENSP00000256474.3:p.Leu140Ter
ENST00000256474.2:c.418_425del	ENSP00000256474.2:p.Leu140Ter
ENST00000345392.2:c.341-3196_341-3189del	ENSP00000344757.2:n.341-3196_341-3189del
ENST00000477538.1:n.554_561del
NM_000551.3:c.418_425del , LRG_322t1:c.418_425del	NP_000542.1:p.Leu140Ter
NM_198156.2:c.341-3196_341-3189del	NP_937799.1:n.341-3196_341-3189del
XM_011534078.1:c.*95_*102del	XP_011532380.1:n.*95_*102del
NM_001354723.1:c.*18-3196_*18-3189del	NP_001341652.1:n.*18-3196_*18-3189del
NM_000551.4:c.418_425del MANE Select	NP_000542.1:p.Leu140Ter
NM_001354723.2:c.*18-3196_*18-3189del	NP_001341652.1:n.*18-3196_*18-3189del
NM_198156.3:c.341-3196_341-3189del	NP_937799.1:n.341-3196_341-3189del