Canonical Allele Identifier: CA645529569

Gene: VHL

Linked Data

• COSMIC: COSM17987

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149905_10149906insT , CM000665.2:g.10149905_10149906insT	GRCh38
NC_000003.11:g.10191589_10191590insT , CM000665.1:g.10191589_10191590insT	GRCh37
NC_000003.10:g.10166589_10166590insT	NCBI36
NG_008212.3:g.13271_13272insT , LRG_322:g.13271_13272insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*259_*260insT	ENSP00000512434.1:n.*259_*260insT
ENST00000696143.1:c.718_719insT	ENSP00000512435.1:n.718_719insT
ENST00000696153.1:c.693_694insT	ENSP00000512444.1:p.Gln232SerfsTer?
ENST00000256474.3:c.582_583insT MANE Select	ENSP00000256474.3:p.Gln195SerfsTer?
ENST00000256474.2:c.582_583insT	ENSP00000256474.2:p.Gln195SerfsTer?
ENST00000345392.2:c.459_460insT	ENSP00000344757.2:p.Gln154SerfsTer?
ENST00000477538.1:n.718_719insT
NM_000551.3:c.582_583insT , LRG_322t1:c.582_583insT	NP_000542.1:p.Gln195SerfsTer?
NM_198156.2:c.459_460insT	NP_937799.1:p.Gln154SerfsTer?
NM_001354723.1:c.*136_*137insT	NP_001341652.1:n.*136_*137insT
NM_000551.4:c.582_583insT MANE Select	NP_000542.1:p.Gln195SerfsTer?
NM_001354723.2:c.*136_*137insT	NP_001341652.1:n.*136_*137insT
NM_198156.3:c.459_460insT	NP_937799.1:p.Gln154SerfsTer?