Canonical Allele Identifier: CA645524953

Gene: VHL

Linked Data

• COSMIC: COSM3734690

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146588del , CM000665.2:g.10146588del	GRCh38
NC_000003.11:g.10188272del , CM000665.1:g.10188272del	GRCh37
NC_000003.10:g.10163272del	NCBI36
NG_008212.3:g.9954del , LRG_322:g.9954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*92del	ENSP00000512434.1:n.*92del
ENST00000696143.1:c.600-3199del	ENSP00000512435.1:n.600-3199del
ENST00000696153.1:c.415del	ENSP00000512444.1:p.Ser139LeufsTer30
ENST00000256474.3:c.415del MANE Select	ENSP00000256474.3:p.Ser139LeufsTer20
ENST00000256474.2:c.415del	ENSP00000256474.2:p.Ser139LeufsTer20
ENST00000345392.2:c.341-3199del	ENSP00000344757.2:n.341-3199del
ENST00000477538.1:n.551del
NM_000551.3:c.415del , LRG_322t1:c.415del	NP_000542.1:p.Ser139LeufsTer20
NM_198156.2:c.341-3199del	NP_937799.1:n.341-3199del
XM_011534078.1:c.*92del	XP_011532380.1:n.*92del
NM_001354723.1:c.*18-3199del	NP_001341652.1:n.*18-3199del
NM_000551.4:c.415del MANE Select	NP_000542.1:p.Ser139LeufsTer20
NM_001354723.2:c.*18-3199del	NP_001341652.1:n.*18-3199del
NM_198156.3:c.341-3199del	NP_937799.1:n.341-3199del