Canonical Allele Identifier: CA645524881

Gene: VHL

Linked Data

• COSMIC: COSM1169466

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146517_10146519del , CM000665.2:g.10146517_10146519del	GRCh38
NC_000003.11:g.10188201_10188203del , CM000665.1:g.10188201_10188203del	GRCh37
NC_000003.10:g.10163201_10163203del	NCBI36
NG_008212.3:g.9883_9885del , LRG_322:g.9883_9885del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*21_*23del	ENSP00000512434.1:n.*21_*23del
ENST00000696143.1:c.600-3270_600-3268del	ENSP00000512435.1:n.600-3270_600-3268del
ENST00000696153.1:c.344_346del	ENSP00000512444.1:p.His115del
ENST00000256474.3:c.344_346del MANE Select	ENSP00000256474.3:p.His115del
ENST00000256474.2:c.344_346del	ENSP00000256474.2:p.His115del
ENST00000345392.2:c.341-3270_341-3268del	ENSP00000344757.2:n.341-3270_341-3268del
ENST00000477538.1:n.480_482del
NM_000551.3:c.344_346del , LRG_322t1:c.344_346del	NP_000542.1:p.His115del
NM_198156.2:c.341-3270_341-3268del	NP_937799.1:n.341-3270_341-3268del
XM_011534078.1:c.*21_*23del	XP_011532380.1:n.*21_*23del
NM_001354723.1:c.*18-3270_*18-3268del	NP_001341652.1:n.*18-3270_*18-3268del
NM_000551.4:c.344_346del MANE Select	NP_000542.1:p.His115del
NM_001354723.2:c.*18-3270_*18-3268del	NP_001341652.1:n.*18-3270_*18-3268del
NM_198156.3:c.341-3270_341-3268del	NP_937799.1:n.341-3270_341-3268del