Canonical Allele Identifier: CA645529530

Gene: VHL

Linked Data

• COSMIC: COSM18261

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149863_10149867delinsT , CM000665.2:g.10149863_10149867delinsT	GRCh38
NC_000003.11:g.10191547_10191551delinsT , CM000665.1:g.10191547_10191551delinsT	GRCh37
NC_000003.10:g.10166547_10166551delinsT	NCBI36
NG_008212.3:g.13229_13233delinsT , LRG_322:g.13229_13233delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*217_*221delinsT	ENSP00000512434.1:n.*217_*221delinsT
ENST00000696143.1:c.676_680delinsT	ENSP00000512435.1:n.676_680delinsT
ENST00000696153.1:c.651_655delinsT	ENSP00000512444.1:p.Val218GlyfsTer20
ENST00000256474.3:c.540_544delinsT MANE Select	ENSP00000256474.3:p.Val181GlyfsTer20
ENST00000256474.2:c.540_544delinsT	ENSP00000256474.2:p.Val181GlyfsTer20
ENST00000345392.2:c.417_421delinsT	ENSP00000344757.2:p.Val140GlyfsTer20
ENST00000477538.1:n.676_680delinsT
NM_000551.3:c.540_544delinsT , LRG_322t1:c.540_544delinsT	NP_000542.1:p.Val181GlyfsTer20
NM_198156.2:c.417_421delinsT	NP_937799.1:p.Val140GlyfsTer20
NM_001354723.1:c.*94_*98delinsT	NP_001341652.1:n.*94_*98delinsT
NM_000551.4:c.540_544delinsT MANE Select	NP_000542.1:p.Val181GlyfsTer20
NM_001354723.2:c.*94_*98delinsT	NP_001341652.1:n.*94_*98delinsT
NM_198156.3:c.417_421delinsT	NP_937799.1:p.Val140GlyfsTer20