Canonical Allele Identifier: CA645524975

Gene: VHL

Linked Data

• COSMIC: COSM18112

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146603_10146634del , CM000665.2:g.10146603_10146634del	GRCh38
NC_000003.11:g.10188287_10188318del , CM000665.1:g.10188287_10188318del	GRCh37
NC_000003.10:g.10163287_10163318del	NCBI36
NG_008212.3:g.9969_10000del , LRG_322:g.9969_10000del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*107_*138del	ENSP00000512434.1:n.*107_*138del
ENST00000696143.1:c.600-3184_600-3153del	ENSP00000512435.1:n.600-3184_600-3153del
ENST00000696153.1:c.430_461del	ENSP00000512444.1:p.Gly144ArgfsTer?
ENST00000256474.3:c.430_461del MANE Select	ENSP00000256474.3:p.Gly144SerfsTer19
ENST00000256474.2:c.430_461del	ENSP00000256474.2:p.Gly144SerfsTer19
ENST00000345392.2:c.341-3184_341-3153del	ENSP00000344757.2:n.341-3184_341-3153del
ENST00000477538.1:n.566_597del
NM_000551.3:c.430_461del , LRG_322t1:c.430_461del	NP_000542.1:p.Gly144SerfsTer19
NM_198156.2:c.341-3184_341-3153del	NP_937799.1:n.341-3184_341-3153del
NM_001354723.1:c.*18-3184_*18-3153del	NP_001341652.1:n.*18-3184_*18-3153del
NM_000551.4:c.430_461del MANE Select	NP_000542.1:p.Gly144SerfsTer19
NM_001354723.2:c.*18-3184_*18-3153del	NP_001341652.1:n.*18-3184_*18-3153del
NM_198156.3:c.341-3184_341-3153del	NP_937799.1:n.341-3184_341-3153del