Canonical Allele Identifier: CA432423094

Gene: VHL

Linked Data

• COSMIC: COSM1665854
• MyVariant Identifiers: chr3:g.10191480del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149796del , CM000665.2:g.10149796del	GRCh38
NC_000003.11:g.10191480del , CM000665.1:g.10191480del	GRCh37
NC_000003.10:g.10166480del	NCBI36
NG_008212.3:g.13162del , LRG_322:g.13162del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*150del	ENSP00000512434.1:n.*150del
ENST00000696143.1:c.609del	ENSP00000512435.1:n.609del
ENST00000696153.1:c.584del	ENSP00000512444.1:p.Leu195ArgfsTer12
ENST00000256474.3:c.473del MANE Select	ENSP00000256474.3:p.Leu158ArgfsTer12
ENST00000256474.2:c.473del	ENSP00000256474.2:p.Leu158ArgfsTer12
ENST00000345392.2:c.350del	ENSP00000344757.2:p.Leu117ArgfsTer12
ENST00000477538.1:n.609del
NM_000551.3:c.473del , LRG_322t1:c.473del	NP_000542.1:p.Leu158ArgfsTer12
NM_198156.2:c.350del	NP_937799.1:p.Leu117ArgfsTer12
NM_001354723.1:c.*27del	NP_001341652.1:n.*27del
NM_000551.4:c.473del MANE Select	NP_000542.1:p.Leu158ArgfsTer12
NM_001354723.2:c.*27del	NP_001341652.1:n.*27del
NM_198156.3:c.350del	NP_937799.1:p.Leu117ArgfsTer12