Canonical Allele Identifier: CA645524853

Gene: VHL

Linked Data

• COSMIC: COSM308482

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142175_10142176insGCATCA , CM000665.2:g.10142175_10142176insGCATCA	GRCh38
NC_000003.11:g.10183859_10183860insGCATCA , CM000665.1:g.10183859_10183860insGCATCA	GRCh37
NC_000003.10:g.10158859_10158860insGCATCA	NCBI36
NG_008212.3:g.5541_5542insGCATCA , LRG_322:g.5541_5542insGCATCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.328_329insGCATCA	ENSP00000512434.1:p.His110delinsArgIleAsn
ENST00000696143.1:c.328_329insGCATCA	ENSP00000512435.1:p.His110delinsArgIleAsn
ENST00000696153.1:c.328_329insGCATCA	ENSP00000512444.1:p.His110delinsArgIleAsn
ENST00000256474.3:c.328_329insGCATCA MANE Select	ENSP00000256474.3:p.His110delinsArgIleAsn
ENST00000256474.2:c.328_329insGCATCA	ENSP00000256474.2:p.His110delinsArgIleAsn
ENST00000345392.2:c.328_329insGCATCA	ENSP00000344757.2:p.His110delinsArgIleAsn
NM_000551.3:c.328_329insGCATCA , LRG_322t1:c.328_329insGCATCA	NP_000542.1:p.His110delinsArgIleAsn
NM_198156.2:c.328_329insGCATCA	NP_937799.1:p.His110delinsArgIleAsn
XM_011534078.1:c.328_329insGCATCA	XP_011532380.1:p.His110delinsArgIleAsn
NM_001354723.1:c.328_329insGCATCA	NP_001341652.1:p.His110delinsArgIleAsn
NM_000551.4:c.328_329insGCATCA MANE Select	NP_000542.1:p.His110delinsArgIleAsn
NM_001354723.2:c.328_329insGCATCA	NP_001341652.1:p.His110delinsArgIleAsn
NM_198156.3:c.328_329insGCATCA	NP_937799.1:p.His110delinsArgIleAsn