Canonical Allele Identifier: CA645524908

Gene: VHL

Linked Data

• COSMIC: COSM4770220

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146542_10146543insC , CM000665.2:g.10146542_10146543insC	GRCh38
NC_000003.11:g.10188226_10188227insC , CM000665.1:g.10188226_10188227insC	GRCh37
NC_000003.10:g.10163226_10163227insC	NCBI36
NG_008212.3:g.9908_9909insC , LRG_322:g.9908_9909insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*46_*47insC	ENSP00000512434.1:n.*46_*47insC
ENST00000696143.1:c.600-3245_600-3244insC	ENSP00000512435.1:n.600-3245_600-3244insC
ENST00000696153.1:c.369_370insC	ENSP00000512444.1:p.Thr124HisfsTer8
ENST00000256474.3:c.369_370insC MANE Select	ENSP00000256474.3:p.Thr124HisfsTer8
ENST00000256474.2:c.369_370insC	ENSP00000256474.2:p.Thr124HisfsTer8
ENST00000345392.2:c.341-3245_341-3244insC	ENSP00000344757.2:n.341-3245_341-3244insC
ENST00000477538.1:n.505_506insC
NM_000551.3:c.369_370insC , LRG_322t1:c.369_370insC	NP_000542.1:p.Thr124HisfsTer8
NM_198156.2:c.341-3245_341-3244insC	NP_937799.1:n.341-3245_341-3244insC
XM_011534078.1:c.*46_*47insC	XP_011532380.1:n.*46_*47insC
NM_001354723.1:c.*18-3245_*18-3244insC	NP_001341652.1:n.*18-3245_*18-3244insC
NM_000551.4:c.369_370insC MANE Select	NP_000542.1:p.Thr124HisfsTer8
NM_001354723.2:c.*18-3245_*18-3244insC	NP_001341652.1:n.*18-3245_*18-3244insC
NM_198156.3:c.341-3245_341-3244insC	NP_937799.1:n.341-3245_341-3244insC