Canonical Allele Identifier: CA645525040

Gene: VHL

Linked Data

• COSMIC: COSM4770212

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149792_10149800delinsT , CM000665.2:g.10149792_10149800delinsT	GRCh38
NC_000003.11:g.10191476_10191484delinsT , CM000665.1:g.10191476_10191484delinsT	GRCh37
NC_000003.10:g.10166476_10166484delinsT	NCBI36
NG_008212.3:g.13158_13166delinsT , LRG_322:g.13158_13166delinsT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*146_*154delinsT	ENSP00000512434.1:n.*146_*154delinsT
ENST00000696143.1:c.605_613delinsT	ENSP00000512435.1:n.605_613delinsT
ENST00000696153.1:c.580_588delinsT	ENSP00000512444.1:p.Thr194Ter
ENST00000256474.3:c.469_477delinsT MANE Select	ENSP00000256474.3:p.Thr157Ter
ENST00000256474.2:c.469_477delinsT	ENSP00000256474.2:p.Thr157Ter
ENST00000345392.2:c.346_354delinsT	ENSP00000344757.2:p.Thr116Ter
ENST00000477538.1:n.605_613delinsT
NM_000551.3:c.469_477delinsT , LRG_322t1:c.469_477delinsT	NP_000542.1:p.Thr157Ter
NM_198156.2:c.346_354delinsT	NP_937799.1:p.Thr116Ter
NM_001354723.1:c.*23_*31delinsT	NP_001341652.1:n.*23_*31delinsT
NM_000551.4:c.469_477delinsT MANE Select	NP_000542.1:p.Thr157Ter
NM_001354723.2:c.*23_*31delinsT	NP_001341652.1:n.*23_*31delinsT
NM_198156.3:c.346_354delinsT	NP_937799.1:p.Thr116Ter