Canonical Allele Identifier: CA645525008

Gene: VHL

Linked Data

• COSMIC: COSM1169472 ; COSM1732002

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146629_10146630del , CM000665.2:g.10146629_10146630del	GRCh38
NC_000003.11:g.10188313_10188314del , CM000665.1:g.10188313_10188314del	GRCh37
NC_000003.10:g.10163313_10163314del	NCBI36
NG_008212.3:g.9995_9996del , LRG_322:g.9995_9996del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*133_*134del	ENSP00000512434.1:n.*133_*134del
ENST00000696143.1:c.600-3158_600-3157del	ENSP00000512435.1:n.600-3158_600-3157del
ENST00000696153.1:c.456_457del	ENSP00000512444.1:p.Leu153AlafsTer?
ENST00000256474.3:c.456_457del MANE Select	ENSP00000256474.3:p.Leu153AlafsTer20
ENST00000256474.2:c.456_457del	ENSP00000256474.2:p.Leu153AlafsTer20
ENST00000345392.2:c.341-3158_341-3157del	ENSP00000344757.2:n.341-3158_341-3157del
ENST00000477538.1:n.592_593del
NM_000551.3:c.456_457del , LRG_322t1:c.456_457del	NP_000542.1:p.Leu153AlafsTer20
NM_198156.2:c.341-3158_341-3157del	NP_937799.1:n.341-3158_341-3157del
NM_001354723.1:c.*18-3158_*18-3157del	NP_001341652.1:n.*18-3158_*18-3157del
NM_000551.4:c.456_457del MANE Select	NP_000542.1:p.Leu153AlafsTer20
NM_001354723.2:c.*18-3158_*18-3157del	NP_001341652.1:n.*18-3158_*18-3157del
NM_198156.3:c.341-3158_341-3157del	NP_937799.1:n.341-3158_341-3157del