Canonical Allele Identifier: CA432423480

Gene: VHL

Linked Data

• COSMIC: COSM18265
• MyVariant Identifiers: chr3:g.10191539del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149855del , CM000665.2:g.10149855del	GRCh38
NC_000003.11:g.10191539del , CM000665.1:g.10191539del	GRCh37
NC_000003.10:g.10166539del	NCBI36
NG_008212.3:g.13221del , LRG_322:g.13221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*209del	ENSP00000512434.1:n.*209del
ENST00000696143.1:c.668del	ENSP00000512435.1:n.668del
ENST00000696153.1:c.643del	ENSP00000512444.1:p.Leu215TrpfsTer24
ENST00000256474.3:c.532del MANE Select	ENSP00000256474.3:p.Leu178TrpfsTer24
ENST00000256474.2:c.532del	ENSP00000256474.2:p.Leu178TrpfsTer24
ENST00000345392.2:c.409del	ENSP00000344757.2:p.Leu137TrpfsTer24
ENST00000477538.1:n.668del
NM_000551.3:c.532del , LRG_322t1:c.532del	NP_000542.1:p.Leu178TrpfsTer24
NM_198156.2:c.409del	NP_937799.1:p.Leu137TrpfsTer24
NM_001354723.1:c.*86del	NP_001341652.1:n.*86del
NM_000551.4:c.532del MANE Select	NP_000542.1:p.Leu178TrpfsTer24
NM_001354723.2:c.*86del	NP_001341652.1:n.*86del
NM_198156.3:c.409del	NP_937799.1:p.Leu137TrpfsTer24