Canonical Allele Identifier: CA432423324

Gene: VHL

Linked Data

• COSMIC: COSM25691
• MyVariant Identifiers: chr3:g.10191514del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149830del , CM000665.2:g.10149830del	GRCh38
NC_000003.11:g.10191514del , CM000665.1:g.10191514del	GRCh37
NC_000003.10:g.10166514del	NCBI36
NG_008212.3:g.13196del , LRG_322:g.13196del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*184del	ENSP00000512434.1:n.*184del
ENST00000696143.1:c.643del	ENSP00000512435.1:n.643del
ENST00000696153.1:c.618del	ENSP00000512444.1:p.Val207SerfsTer?
ENST00000256474.3:c.507del MANE Select	ENSP00000256474.3:p.Val170SerfsTer?
ENST00000256474.2:c.507del	ENSP00000256474.2:p.Val170SerfsTer?
ENST00000345392.2:c.384del	ENSP00000344757.2:p.Val129SerfsTer?
ENST00000477538.1:n.643del
NM_000551.3:c.507del , LRG_322t1:c.507del	NP_000542.1:p.Val170SerfsTer?
NM_198156.2:c.384del	NP_937799.1:p.Val129SerfsTer?
NM_001354723.1:c.*61del	NP_001341652.1:n.*61del
NM_000551.4:c.507del MANE Select	NP_000542.1:p.Val170SerfsTer?
NM_001354723.2:c.*61del	NP_001341652.1:n.*61del
NM_198156.3:c.384del	NP_937799.1:p.Val129SerfsTer?