Canonical Allele Identifier: CA432423082

Gene: VHL

Linked Data

• COSMIC: COSM1665853
• MyVariant Identifiers: chr3:g.10191478del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149794del , CM000665.2:g.10149794del	GRCh38
NC_000003.11:g.10191478del , CM000665.1:g.10191478del	GRCh37
NC_000003.10:g.10166478del	NCBI36
NG_008212.3:g.13160del , LRG_322:g.13160del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*148del	ENSP00000512434.1:n.*148del
ENST00000696143.1:c.607del	ENSP00000512435.1:n.607del
ENST00000696153.1:c.582del	ENSP00000512444.1:p.Leu195Ter
ENST00000256474.3:c.471del MANE Select	ENSP00000256474.3:p.Leu158Ter
ENST00000256474.2:c.471del	ENSP00000256474.2:p.Leu158Ter
ENST00000345392.2:c.348del	ENSP00000344757.2:p.Leu117Ter
ENST00000477538.1:n.607del
NM_000551.3:c.471del , LRG_322t1:c.471del	NP_000542.1:p.Leu158Ter
NM_198156.2:c.348del	NP_937799.1:p.Leu117Ter
NM_001354723.1:c.*25del	NP_001341652.1:n.*25del
NM_000551.4:c.471del MANE Select	NP_000542.1:p.Leu158Ter
NM_001354723.2:c.*25del	NP_001341652.1:n.*25del
NM_198156.3:c.348del	NP_937799.1:p.Leu117Ter