Canonical Allele Identifier: CA645525002

Gene: VHL

Linked Data

• COSMIC: COSM18418

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146619_10146745del , CM000665.2:g.10146619_10146745del	GRCh38
NC_000003.11:g.10188303_10188429del , CM000665.1:g.10188303_10188429del	GRCh37
NC_000003.10:g.10163303_10163429del	NCBI36
NG_008212.3:g.9985_10111del , LRG_322:g.9985_10111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*123_*140+109del
ENST00000696143.1:c.600-3168_600-3042del	ENSP00000512435.1:n.600-3168_600-3042del
ENST00000696153.1:c.446_463+109del
ENST00000256474.3:c.446_463+109del
ENST00000256474.2:c.446_463+109del
ENST00000345392.2:c.341-3168_341-3042del	ENSP00000344757.2:n.341-3168_341-3042del
ENST00000477538.1:n.582_599+109del
NM_000551.3:c.446_463+109del , LRG_322t1:c.446_463+109del
NM_198156.2:c.341-3168_341-3042del	NP_937799.1:n.341-3168_341-3042del
NM_001354723.1:c.*18-3168_*18-3042del	NP_001341652.1:n.*18-3168_*18-3042del
NM_000551.4:c.446_463+109del
NM_001354723.2:c.*18-3168_*18-3042del	NP_001341652.1:n.*18-3168_*18-3042del
NM_198156.3:c.341-3168_341-3042del	NP_937799.1:n.341-3168_341-3042del