Canonical Allele Identifier: CA432423433

Gene: VHL

Linked Data

• COSMIC: COSM14377
• MyVariant Identifiers: chr3:g.10191531del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149847del , CM000665.2:g.10149847del	GRCh38
NC_000003.11:g.10191531del , CM000665.1:g.10191531del	GRCh37
NC_000003.10:g.10166531del	NCBI36
NG_008212.3:g.13213del , LRG_322:g.13213del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*201del	ENSP00000512434.1:n.*201del
ENST00000696143.1:c.660del	ENSP00000512435.1:n.660del
ENST00000696153.1:c.635del	ENSP00000512444.1:p.Tyr212SerfsTer27
ENST00000256474.3:c.524del MANE Select	ENSP00000256474.3:p.Tyr175SerfsTer27
ENST00000256474.2:c.524del	ENSP00000256474.2:p.Tyr175SerfsTer27
ENST00000345392.2:c.401del	ENSP00000344757.2:p.Tyr134SerfsTer27
ENST00000477538.1:n.660del
NM_000551.3:c.524del , LRG_322t1:c.524del	NP_000542.1:p.Tyr175SerfsTer27
NM_198156.2:c.401del	NP_937799.1:p.Tyr134SerfsTer27
NM_001354723.1:c.*78del	NP_001341652.1:n.*78del
NM_000551.4:c.524del MANE Select	NP_000542.1:p.Tyr175SerfsTer27
NM_001354723.2:c.*78del	NP_001341652.1:n.*78del
NM_198156.3:c.401del	NP_937799.1:p.Tyr134SerfsTer27