Canonical Allele Identifier: CA645524896

Gene: VHL

Linked Data

• COSMIC: COSM253363

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146534_10146543del , CM000665.2:g.10146534_10146543del	GRCh38
NC_000003.11:g.10188218_10188227del , CM000665.1:g.10188218_10188227del	GRCh37
NC_000003.10:g.10163218_10163227del	NCBI36
NG_008212.3:g.9900_9909del , LRG_322:g.9900_9909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*38_*47del	ENSP00000512434.1:n.*38_*47del
ENST00000696143.1:c.600-3253_600-3244del	ENSP00000512435.1:n.600-3253_600-3244del
ENST00000696153.1:c.361_370del	ENSP00000512444.1:p.Asp121HisfsTer?
ENST00000256474.3:c.361_370del MANE Select	ENSP00000256474.3:p.Asp121HisfsTer?
ENST00000256474.2:c.361_370del	ENSP00000256474.2:p.Asp121HisfsTer?
ENST00000345392.2:c.341-3253_341-3244del	ENSP00000344757.2:n.341-3253_341-3244del
ENST00000477538.1:n.497_506del
NM_000551.3:c.361_370del , LRG_322t1:c.361_370del	NP_000542.1:p.Asp121HisfsTer?
NM_198156.2:c.341-3253_341-3244del	NP_937799.1:n.341-3253_341-3244del
XM_011534078.1:c.*38_*47del	XP_011532380.1:n.*38_*47del
NM_001354723.1:c.*18-3253_*18-3244del	NP_001341652.1:n.*18-3253_*18-3244del
NM_000551.4:c.361_370del MANE Select	NP_000542.1:p.Asp121HisfsTer?
NM_001354723.2:c.*18-3253_*18-3244del	NP_001341652.1:n.*18-3253_*18-3244del
NM_198156.3:c.341-3253_341-3244del	NP_937799.1:n.341-3253_341-3244del