Canonical Allele Identifier: CA645529533

Gene: VHL

Linked Data

• COSMIC: COSM36340

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149865_10149868del , CM000665.2:g.10149865_10149868del	GRCh38
NC_000003.11:g.10191549_10191552del , CM000665.1:g.10191549_10191552del	GRCh37
NC_000003.10:g.10166549_10166552del	NCBI36
NG_008212.3:g.13231_13234del , LRG_322:g.13231_13234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*219_*222del	ENSP00000512434.1:n.*219_*222del
ENST00000696143.1:c.678_681del	ENSP00000512435.1:n.678_681del
ENST00000696153.1:c.653_656del	ENSP00000512444.1:p.Val218GlyfsTer20
ENST00000256474.3:c.542_545del MANE Select	ENSP00000256474.3:p.Val181GlyfsTer20
ENST00000256474.2:c.542_545del	ENSP00000256474.2:p.Val181GlyfsTer20
ENST00000345392.2:c.419_422del	ENSP00000344757.2:p.Val140GlyfsTer20
ENST00000477538.1:n.678_681del
NM_000551.3:c.542_545del , LRG_322t1:c.542_545del	NP_000542.1:p.Val181GlyfsTer20
NM_198156.2:c.419_422del	NP_937799.1:p.Val140GlyfsTer20
NM_001354723.1:c.*96_*99del	NP_001341652.1:n.*96_*99del
NM_000551.4:c.542_545del MANE Select	NP_000542.1:p.Val181GlyfsTer20
NM_001354723.2:c.*96_*99del	NP_001341652.1:n.*96_*99del
NM_198156.3:c.419_422del	NP_937799.1:p.Val140GlyfsTer20