Canonical Allele Identifier: CA2580068384

Gene: VHL

Linked Data

• ClinVar Variation Id: 2125302
• ClinVar RCV Id: RCV003049506

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141880_10141885dup , CM000665.2:g.10141880_10141885dup	GRCh38
NC_000003.11:g.10183564_10183569dup , CM000665.1:g.10183564_10183569dup	GRCh37
NC_000003.10:g.10158564_10158569dup	NCBI36
NG_008212.3:g.5246_5251dup , LRG_322:g.5246_5251dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.33_38dup	ENSP00000512434.1:p.Val13_Gly14insGluVal
ENST00000696143.1:c.33_38dup	ENSP00000512435.1:p.Val13_Gly14insGluVal
ENST00000696153.1:c.33_38dup	ENSP00000512444.1:p.Val13_Gly14insGluVal
ENST00000256474.3:c.33_38dup MANE Select	ENSP00000256474.3:p.Val13_Gly14insGluVal
ENST00000256474.2:c.33_38dup	ENSP00000256474.2:p.Val13_Gly14insGluVal
ENST00000345392.2:c.33_38dup	ENSP00000344757.2:p.Val13_Gly14insGluVal
NM_000551.3:c.33_38dup , LRG_322t1:c.33_38dup	NP_000542.1:p.Val13_Gly14insGluVal
NM_198156.2:c.33_38dup	NP_937799.1:p.Val13_Gly14insGluVal
XM_011534078.1:c.33_38dup	XP_011532380.1:p.Val13_Gly14insGluVal
NM_001354723.1:c.33_38dup	NP_001341652.1:p.Val13_Gly14insGluVal
NM_000551.4:c.33_38dup MANE Select	NP_000542.1:p.Val13_Gly14insGluVal
NM_001354723.2:c.33_38dup	NP_001341652.1:p.Val13_Gly14insGluVal
NM_198156.3:c.33_38dup	NP_937799.1:p.Val13_Gly14insGluVal