Canonical Allele Identifier: CA2573136079

Gene: VHL

Linked Data

• ClinVar Variation Id: 1486268
• ClinVar RCV Id: RCV002003475
• dbSNP Id: rs2125124488

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141885_10141899dup , CM000665.2:g.10141885_10141899dup	GRCh38
NC_000003.11:g.10183569_10183583dup , CM000665.1:g.10183569_10183583dup	GRCh37
NC_000003.10:g.10158569_10158583dup	NCBI36
NG_008212.3:g.5251_5265dup , LRG_322:g.5251_5265dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.38_52dup	ENSP00000512434.1:p.Glu17_Ala18insValGlyAlaGluGlu
ENST00000696143.1:c.38_52dup	ENSP00000512435.1:p.Glu17_Ala18insValGlyAlaGluGlu
ENST00000696153.1:c.38_52dup	ENSP00000512444.1:p.Glu17_Ala18insValGlyAlaGluGlu
ENST00000256474.3:c.38_52dup MANE Select	ENSP00000256474.3:p.Glu17_Ala18insValGlyAlaGluGlu
ENST00000256474.2:c.38_52dup	ENSP00000256474.2:p.Glu17_Ala18insValGlyAlaGluGlu
ENST00000345392.2:c.38_52dup	ENSP00000344757.2:p.Glu17_Ala18insValGlyAlaGluGlu
NM_000551.3:c.38_52dup , LRG_322t1:c.38_52dup	NP_000542.1:p.Glu17_Ala18insValGlyAlaGluGlu
NM_198156.2:c.38_52dup	NP_937799.1:p.Glu17_Ala18insValGlyAlaGluGlu
XM_011534078.1:c.38_52dup	XP_011532380.1:p.Glu17_Ala18insValGlyAlaGluGlu
NM_001354723.1:c.38_52dup	NP_001341652.1:p.Glu17_Ala18insValGlyAlaGluGlu
NM_000551.4:c.38_52dup MANE Select	NP_000542.1:p.Glu17_Ala18insValGlyAlaGluGlu
NM_001354723.2:c.38_52dup	NP_001341652.1:p.Glu17_Ala18insValGlyAlaGluGlu
NM_198156.3:c.38_52dup	NP_937799.1:p.Glu17_Ala18insValGlyAlaGluGlu