Canonical Allele Identifier: CA645524880

Gene: VHL

Linked Data

• COSMIC: COSM144718

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146516_10146520del , CM000665.2:g.10146516_10146520del	GRCh38
NC_000003.11:g.10188200_10188204del , CM000665.1:g.10188200_10188204del	GRCh37
NC_000003.10:g.10163200_10163204del	NCBI36
NG_008212.3:g.9882_9886del , LRG_322:g.9882_9886del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*20_*24del	ENSP00000512434.1:n.*20_*24del
ENST00000696143.1:c.600-3271_600-3267del	ENSP00000512435.1:n.600-3271_600-3267del
ENST00000696153.1:c.343_347del	ENSP00000512444.1:p.His115LeufsTer15
ENST00000256474.3:c.343_347del MANE Select	ENSP00000256474.3:p.His115LeufsTer15
ENST00000256474.2:c.343_347del	ENSP00000256474.2:p.His115LeufsTer15
ENST00000345392.2:c.341-3271_341-3267del	ENSP00000344757.2:n.341-3271_341-3267del
ENST00000477538.1:n.479_483del
NM_000551.3:c.343_347del , LRG_322t1:c.343_347del	NP_000542.1:p.His115LeufsTer15
NM_198156.2:c.341-3271_341-3267del	NP_937799.1:n.341-3271_341-3267del
XM_011534078.1:c.*20_*24del	XP_011532380.1:n.*20_*24del
NM_001354723.1:c.*18-3271_*18-3267del	NP_001341652.1:n.*18-3271_*18-3267del
NM_000551.4:c.343_347del MANE Select	NP_000542.1:p.His115LeufsTer15
NM_001354723.2:c.*18-3271_*18-3267del	NP_001341652.1:n.*18-3271_*18-3267del
NM_198156.3:c.341-3271_341-3267del	NP_937799.1:n.341-3271_341-3267del