Canonical Allele Identifier: CA432423309

Gene: VHL

Linked Data

• COSMIC: COSM17914
• MyVariant Identifiers: chr3:g.10191512del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149828del , CM000665.2:g.10149828del	GRCh38
NC_000003.11:g.10191512del , CM000665.1:g.10191512del	GRCh37
NC_000003.10:g.10166512del	NCBI36
NG_008212.3:g.13194del , LRG_322:g.13194del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*182del	ENSP00000512434.1:n.*182del
ENST00000696143.1:c.641del	ENSP00000512435.1:n.641del
ENST00000696153.1:c.616del	ENSP00000512444.1:p.Leu206Ter
ENST00000256474.3:c.505del MANE Select	ENSP00000256474.3:p.Leu169Ter
ENST00000256474.2:c.505del	ENSP00000256474.2:p.Leu169Ter
ENST00000345392.2:c.382del	ENSP00000344757.2:p.Leu128Ter
ENST00000477538.1:n.641del
NM_000551.3:c.505del , LRG_322t1:c.505del	NP_000542.1:p.Leu169Ter
NM_198156.2:c.382del	NP_937799.1:p.Leu128Ter
NM_001354723.1:c.*59del	NP_001341652.1:n.*59del
NM_000551.4:c.505del MANE Select	NP_000542.1:p.Leu169Ter
NM_001354723.2:c.*59del	NP_001341652.1:n.*59del
NM_198156.3:c.382del	NP_937799.1:p.Leu128Ter