Canonical Allele Identifier: CA645524943

Gene: VHL

Linked Data

• COSMIC: COSM17760

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146579_10146581del , CM000665.2:g.10146579_10146581del	GRCh38
NC_000003.11:g.10188263_10188265del , CM000665.1:g.10188263_10188265del	GRCh37
NC_000003.10:g.10163263_10163265del	NCBI36
NG_008212.3:g.9945_9947del , LRG_322:g.9945_9947del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*83_*85del	ENSP00000512434.1:n.*83_*85del
ENST00000696143.1:c.600-3208_600-3206del	ENSP00000512435.1:n.600-3208_600-3206del
ENST00000696153.1:c.406_408del	ENSP00000512444.1:p.Phe136del
ENST00000256474.3:c.406_408del MANE Select	ENSP00000256474.3:p.Phe136del
ENST00000256474.2:c.406_408del	ENSP00000256474.2:p.Phe136del
ENST00000345392.2:c.341-3208_341-3206del	ENSP00000344757.2:n.341-3208_341-3206del
ENST00000477538.1:n.542_544del
NM_000551.3:c.406_408del , LRG_322t1:c.406_408del	NP_000542.1:p.Phe136del
NM_198156.2:c.341-3208_341-3206del	NP_937799.1:n.341-3208_341-3206del
XM_011534078.1:c.*83_*85del	XP_011532380.1:n.*83_*85del
NM_001354723.1:c.*18-3208_*18-3206del	NP_001341652.1:n.*18-3208_*18-3206del
NM_000551.4:c.406_408del MANE Select	NP_000542.1:p.Phe136del
NM_001354723.2:c.*18-3208_*18-3206del	NP_001341652.1:n.*18-3208_*18-3206del
NM_198156.3:c.341-3208_341-3206del	NP_937799.1:n.341-3208_341-3206del