Canonical Allele Identifier: CA645524672

Gene: VHL

Linked Data

• COSMIC: COSM1169656

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142031_10142032insCCCTGCTGCGCTGCGGTGAG , CM000665.2:g.10142031_10142032insCCCTGCTGCGCTGCGGTGAG	GRCh38
NC_000003.11:g.10183715_10183716insCCCTGCTGCGCTGCGGTGAG , CM000665.1:g.10183715_10183716insCCCTGCTGCGCTGCGGTGAG	GRCh37
NC_000003.10:g.10158715_10158716insCCCTGCTGCGCTGCGGTGAG	NCBI36
NG_008212.3:g.5397_5398insCCCTGCTGCGCTGCGGTGAG , LRG_322:g.5397_5398insCCCTGCTGCGCTGCGGTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.184_185insCCCTGCTGCGCTGCGGTGAG	ENSP00000512434.1:p.Val62AlafsTer12
ENST00000696143.1:c.184_185insCCCTGCTGCGCTGCGGTGAG	ENSP00000512435.1:p.Val62AlafsTer12
ENST00000696153.1:c.184_185insCCCTGCTGCGCTGCGGTGAG	ENSP00000512444.1:p.Val62AlafsTer12
ENST00000256474.3:c.184_185insCCCTGCTGCGCTGCGGTGAG MANE Select	ENSP00000256474.3:p.Val62AlafsTer12
ENST00000256474.2:c.184_185insCCCTGCTGCGCTGCGGTGAG	ENSP00000256474.2:p.Val62AlafsTer12
ENST00000345392.2:c.184_185insCCCTGCTGCGCTGCGGTGAG	ENSP00000344757.2:p.Val62AlafsTer12
NM_000551.3:c.184_185insCCCTGCTGCGCTGCGGTGAG , LRG_322t1:c.184_185insCCCTGCTGCGCTGCGGTGAG	NP_000542.1:p.Val62AlafsTer12
NM_198156.2:c.184_185insCCCTGCTGCGCTGCGGTGAG	NP_937799.1:p.Val62AlafsTer12
XM_011534078.1:c.184_185insCCCTGCTGCGCTGCGGTGAG	XP_011532380.1:p.Val62AlafsTer12
NM_001354723.1:c.184_185insCCCTGCTGCGCTGCGGTGAG	NP_001341652.1:p.Val62AlafsTer12
NM_000551.4:c.184_185insCCCTGCTGCGCTGCGGTGAG MANE Select	NP_000542.1:p.Val62AlafsTer12
NM_001354723.2:c.184_185insCCCTGCTGCGCTGCGGTGAG	NP_001341652.1:p.Val62AlafsTer12
NM_198156.3:c.184_185insCCCTGCTGCGCTGCGGTGAG	NP_937799.1:p.Val62AlafsTer12