Canonical Allele Identifier: CA645525013

Gene: VHL

Linked Data

• COSMIC: COSM18008

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146631_10146638del , CM000665.2:g.10146631_10146638del	GRCh38
NC_000003.11:g.10188315_10188322del , CM000665.1:g.10188315_10188322del	GRCh37
NC_000003.10:g.10163315_10163322del	NCBI36
NG_008212.3:g.9997_10004del , LRG_322:g.9997_10004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*135_*140+2del
ENST00000696143.1:c.600-3156_600-3149del	ENSP00000512435.1:n.600-3156_600-3149del
ENST00000696153.1:c.458_463+2del
ENST00000256474.3:c.458_463+2del
ENST00000256474.2:c.458_463+2del
ENST00000345392.2:c.341-3156_341-3149del	ENSP00000344757.2:n.341-3156_341-3149del
ENST00000477538.1:n.594_599+2del
NM_000551.3:c.458_463+2del , LRG_322t1:c.458_463+2del
NM_198156.2:c.341-3156_341-3149del	NP_937799.1:n.341-3156_341-3149del
NM_001354723.1:c.*18-3156_*18-3149del	NP_001341652.1:n.*18-3156_*18-3149del
NM_000551.4:c.458_463+2del
NM_001354723.2:c.*18-3156_*18-3149del	NP_001341652.1:n.*18-3156_*18-3149del
NM_198156.3:c.341-3156_341-3149del	NP_937799.1:n.341-3156_341-3149del