Canonical Allele Identifier: CA2573136118

Gene: VHL

Linked Data

• ClinVar Variation Id: 1521212
• ClinVar RCV Id: RCV002027824
• dbSNP Id: rs2125125992

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142882del , CM000665.2:g.10142882del	GRCh38
NC_000003.11:g.10184566del , CM000665.1:g.10184566del	GRCh37
NC_000003.10:g.10159566del	NCBI36
NG_008212.3:g.6248del , LRG_322:g.6248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.460del	ENSP00000512434.1:p.Arg154GlufsTer10
ENST00000696143.1:c.460del	ENSP00000512435.1:p.Arg154GlufsTer10
ENST00000696153.1:c.340+695del	ENSP00000512444.1:n.340+695del
ENST00000256474.3:c.340+695del MANE Select	ENSP00000256474.3:n.340+695del
ENST00000256474.2:c.340+695del	ENSP00000256474.2:n.340+695del
ENST00000345392.2:c.340+695del	ENSP00000344757.2:n.340+695del
ENST00000477538.1:n.337del
NM_000551.3:c.340+695del , LRG_322t1:c.340+695del	NP_000542.1:n.340+695del
NM_198156.2:c.340+695del	NP_937799.1:n.340+695del
XM_011534078.1:c.460del	XP_011532380.1:p.Arg154GlufsTer10
NM_001354723.1:c.460del	NP_001341652.1:p.Arg154GlufsTer10
NM_000551.4:c.340+695del MANE Select	NP_000542.1:n.340+695del
NM_001354723.2:c.460del	NP_001341652.1:p.Arg154GlufsTer10
NM_198156.3:c.340+695del	NP_937799.1:n.340+695del