Canonical Allele Identifier: CA645524674

Gene: VHL

Linked Data

• COSMIC: COSM18210

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142032_10142040delinsGC , CM000665.2:g.10142032_10142040delinsGC	GRCh38
NC_000003.11:g.10183716_10183724delinsGC , CM000665.1:g.10183716_10183724delinsGC	GRCh37
NC_000003.10:g.10158716_10158724delinsGC	NCBI36
NG_008212.3:g.5398_5406delinsGC , LRG_322:g.5398_5406delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.185_193delinsGC	ENSP00000512434.1:p.Val62GlyfsTer3
ENST00000696143.1:c.185_193delinsGC	ENSP00000512435.1:p.Val62GlyfsTer3
ENST00000696153.1:c.185_193delinsGC	ENSP00000512444.1:p.Val62GlyfsTer3
ENST00000256474.3:c.185_193delinsGC MANE Select	ENSP00000256474.3:p.Val62GlyfsTer3
ENST00000256474.2:c.185_193delinsGC	ENSP00000256474.2:p.Val62GlyfsTer3
ENST00000345392.2:c.185_193delinsGC	ENSP00000344757.2:p.Val62GlyfsTer3
NM_000551.3:c.185_193delinsGC , LRG_322t1:c.185_193delinsGC	NP_000542.1:p.Val62GlyfsTer3
NM_198156.2:c.185_193delinsGC	NP_937799.1:p.Val62GlyfsTer3
XM_011534078.1:c.185_193delinsGC	XP_011532380.1:p.Val62GlyfsTer3
NM_001354723.1:c.185_193delinsGC	NP_001341652.1:p.Val62GlyfsTer3
NM_000551.4:c.185_193delinsGC MANE Select	NP_000542.1:p.Val62GlyfsTer3
NM_001354723.2:c.185_193delinsGC	NP_001341652.1:p.Val62GlyfsTer3
NM_198156.3:c.185_193delinsGC	NP_937799.1:p.Val62GlyfsTer3