Canonical Allele Identifier: CA432421881

Gene: VHL

Linked Data

• COSMIC: COSM18051
• MyVariant Identifiers: chr3:g.10188281del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146597del , CM000665.2:g.10146597del	GRCh38
NC_000003.11:g.10188281del , CM000665.1:g.10188281del	GRCh37
NC_000003.10:g.10163281del	NCBI36
NG_008212.3:g.9963del , LRG_322:g.9963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*101del	ENSP00000512434.1:n.*101del
ENST00000696143.1:c.600-3190del	ENSP00000512435.1:n.600-3190del
ENST00000696153.1:c.424del	ENSP00000512444.1:p.Val142LeufsTer27
ENST00000256474.3:c.424del MANE Select	ENSP00000256474.3:p.Val142LeufsTer17
ENST00000256474.2:c.424del	ENSP00000256474.2:p.Val142LeufsTer17
ENST00000345392.2:c.341-3190del	ENSP00000344757.2:n.341-3190del
ENST00000477538.1:n.560del
NM_000551.3:c.424del , LRG_322t1:c.424del	NP_000542.1:p.Val142LeufsTer17
NM_198156.2:c.341-3190del	NP_937799.1:n.341-3190del
XM_011534078.1:c.*101del	XP_011532380.1:n.*101del
NM_001354723.1:c.*18-3190del	NP_001341652.1:n.*18-3190del
NM_000551.4:c.424del MANE Select	NP_000542.1:p.Val142LeufsTer17
NM_001354723.2:c.*18-3190del	NP_001341652.1:n.*18-3190del
NM_198156.3:c.341-3190del	NP_937799.1:n.341-3190del