Canonical Allele Identifier: CA645525028

Gene: VHL

Linked Data

• COSMIC: COSM5020990

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149786del , CM000665.2:g.10149786del	GRCh38
NC_000003.11:g.10191470del , CM000665.1:g.10191470del	GRCh37
NC_000003.10:g.10166470del	NCBI36
NG_008212.3:g.13152del , LRG_322:g.13152del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*141-1del	ENSP00000512434.1:n.*141-1del
ENST00000696143.1:c.600-1del	ENSP00000512435.1:n.600-1del
ENST00000696153.1:c.575-1del	ENSP00000512444.1:n.575-1del
ENST00000256474.3:c.464-1del MANE Select	ENSP00000256474.3:n.464-1del
ENST00000256474.2:c.464-1del	ENSP00000256474.2:n.464-1del
ENST00000345392.2:c.341-1del	ENSP00000344757.2:n.341-1del
ENST00000477538.1:n.600-1del
NM_000551.3:c.464-1del , LRG_322t1:c.464-1del	NP_000542.1:n.464-1del
NM_198156.2:c.341-1del	NP_937799.1:n.341-1del
NM_001354723.1:c.*18-1del	NP_001341652.1:n.*18-1del
NM_000551.4:c.464-1del MANE Select	NP_000542.1:n.464-1del
NM_001354723.2:c.*18-1del	NP_001341652.1:n.*18-1del
NM_198156.3:c.341-1del	NP_937799.1:n.341-1del