Canonical Allele Identifier: CA645525037

Gene: VHL

Linked Data

• COSMIC: COSM17850

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149791_10149794del , CM000665.2:g.10149791_10149794del	GRCh38
NC_000003.11:g.10191475_10191478del , CM000665.1:g.10191475_10191478del	GRCh37
NC_000003.10:g.10166475_10166478del	NCBI36
NG_008212.3:g.13157_13160del , LRG_322:g.13157_13160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*145_*148del	ENSP00000512434.1:n.*145_*148del
ENST00000696143.1:c.604_607del	ENSP00000512435.1:n.604_607del
ENST00000696153.1:c.579_582del	ENSP00000512444.1:p.Thr194Ter
ENST00000256474.3:c.468_471del MANE Select	ENSP00000256474.3:p.Thr157Ter
ENST00000256474.2:c.468_471del	ENSP00000256474.2:p.Thr157Ter
ENST00000345392.2:c.345_348del	ENSP00000344757.2:p.Thr116Ter
ENST00000477538.1:n.604_607del
NM_000551.3:c.468_471del , LRG_322t1:c.468_471del	NP_000542.1:p.Thr157Ter
NM_198156.2:c.345_348del	NP_937799.1:p.Thr116Ter
NM_001354723.1:c.*22_*25del	NP_001341652.1:n.*22_*25del
NM_000551.4:c.468_471del MANE Select	NP_000542.1:p.Thr157Ter
NM_001354723.2:c.*22_*25del	NP_001341652.1:n.*22_*25del
NM_198156.3:c.345_348del	NP_937799.1:p.Thr116Ter