Canonical Allele Identifier: CA645524940

Gene: VHL

Linked Data

• COSMIC: COSM4187877

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146578_10146579del , CM000665.2:g.10146578_10146579del	GRCh38
NC_000003.11:g.10188262_10188263del , CM000665.1:g.10188262_10188263del	GRCh37
NC_000003.10:g.10163262_10163263del	NCBI36
NG_008212.3:g.9944_9945del , LRG_322:g.9944_9945del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*82_*83del	ENSP00000512434.1:n.*82_*83del
ENST00000696143.1:c.600-3209_600-3208del	ENSP00000512435.1:n.600-3209_600-3208del
ENST00000696153.1:c.405_406del	ENSP00000512444.1:p.Leu135PhefsTer8
ENST00000256474.3:c.405_406del MANE Select	ENSP00000256474.3:p.Leu135PhefsTer8
ENST00000256474.2:c.405_406del	ENSP00000256474.2:p.Leu135PhefsTer8
ENST00000345392.2:c.341-3209_341-3208del	ENSP00000344757.2:n.341-3209_341-3208del
ENST00000477538.1:n.541_542del
NM_000551.3:c.405_406del , LRG_322t1:c.405_406del	NP_000542.1:p.Leu135PhefsTer8
NM_198156.2:c.341-3209_341-3208del	NP_937799.1:n.341-3209_341-3208del
XM_011534078.1:c.*82_*83del	XP_011532380.1:n.*82_*83del
NM_001354723.1:c.*18-3209_*18-3208del	NP_001341652.1:n.*18-3209_*18-3208del
NM_000551.4:c.405_406del MANE Select	NP_000542.1:p.Leu135PhefsTer8
NM_001354723.2:c.*18-3209_*18-3208del	NP_001341652.1:n.*18-3209_*18-3208del
NM_198156.3:c.341-3209_341-3208del	NP_937799.1:n.341-3209_341-3208del