Canonical Allele Identifier: CA645524889

Gene: VHL

Linked Data

• COSMIC: COSM17995

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146528_10146532del , CM000665.2:g.10146528_10146532del	GRCh38
NC_000003.11:g.10188212_10188216del , CM000665.1:g.10188212_10188216del	GRCh37
NC_000003.10:g.10163212_10163216del	NCBI36
NG_008212.3:g.9894_9898del , LRG_322:g.9894_9898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*32_*36del	ENSP00000512434.1:n.*32_*36del
ENST00000696143.1:c.600-3259_600-3255del	ENSP00000512435.1:n.600-3259_600-3255del
ENST00000696153.1:c.355_359del	ENSP00000512444.1:p.Phe119ArgfsTer11
ENST00000256474.3:c.355_359del MANE Select	ENSP00000256474.3:p.Phe119ArgfsTer11
ENST00000256474.2:c.355_359del	ENSP00000256474.2:p.Phe119ArgfsTer11
ENST00000345392.2:c.341-3259_341-3255del	ENSP00000344757.2:n.341-3259_341-3255del
ENST00000477538.1:n.491_495del
NM_000551.3:c.355_359del , LRG_322t1:c.355_359del	NP_000542.1:p.Phe119ArgfsTer11
NM_198156.2:c.341-3259_341-3255del	NP_937799.1:n.341-3259_341-3255del
XM_011534078.1:c.*32_*36del	XP_011532380.1:n.*32_*36del
NM_001354723.1:c.*18-3259_*18-3255del	NP_001341652.1:n.*18-3259_*18-3255del
NM_000551.4:c.355_359del MANE Select	NP_000542.1:p.Phe119ArgfsTer11
NM_001354723.2:c.*18-3259_*18-3255del	NP_001341652.1:n.*18-3259_*18-3255del
NM_198156.3:c.341-3259_341-3255del	NP_937799.1:n.341-3259_341-3255del