Canonical Allele Identifier: CA645524947

Gene: VHL

Linked Data

• COSMIC: COSM6023876

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146582_10146588del , CM000665.2:g.10146582_10146588del	GRCh38
NC_000003.11:g.10188266_10188272del , CM000665.1:g.10188266_10188272del	GRCh37
NC_000003.10:g.10163266_10163272del	NCBI36
NG_008212.3:g.9948_9954del , LRG_322:g.9948_9954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*86_*92del	ENSP00000512434.1:n.*86_*92del
ENST00000696143.1:c.600-3205_600-3199del	ENSP00000512435.1:n.600-3205_600-3199del
ENST00000696153.1:c.409_415del	ENSP00000512444.1:p.Val137LeufsTer30
ENST00000256474.3:c.409_415del MANE Select	ENSP00000256474.3:p.Val137LeufsTer20
ENST00000256474.2:c.409_415del	ENSP00000256474.2:p.Val137LeufsTer20
ENST00000345392.2:c.341-3205_341-3199del	ENSP00000344757.2:n.341-3205_341-3199del
ENST00000477538.1:n.545_551del
NM_000551.3:c.409_415del , LRG_322t1:c.409_415del	NP_000542.1:p.Val137LeufsTer20
NM_198156.2:c.341-3205_341-3199del	NP_937799.1:n.341-3205_341-3199del
XM_011534078.1:c.*86_*92del	XP_011532380.1:n.*86_*92del
NM_001354723.1:c.*18-3205_*18-3199del	NP_001341652.1:n.*18-3205_*18-3199del
NM_000551.4:c.409_415del MANE Select	NP_000542.1:p.Val137LeufsTer20
NM_001354723.2:c.*18-3205_*18-3199del	NP_001341652.1:n.*18-3205_*18-3199del
NM_198156.3:c.341-3205_341-3199del	NP_937799.1:n.341-3205_341-3199del