Canonical Allele Identifier: CA432423620

Gene: VHL

Linked Data

• COSMIC: COSM17684
• MyVariant Identifiers: chr3:g.10191560del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149876del , CM000665.2:g.10149876del	GRCh38
NC_000003.11:g.10191560del , CM000665.1:g.10191560del	GRCh37
NC_000003.10:g.10166560del	NCBI36
NG_008212.3:g.13242del , LRG_322:g.13242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*230del	ENSP00000512434.1:n.*230del
ENST00000696143.1:c.689del	ENSP00000512435.1:n.689del
ENST00000696153.1:c.664del	ENSP00000512444.1:p.Tyr222ThrfsTer17
ENST00000256474.3:c.553del MANE Select	ENSP00000256474.3:p.Tyr185ThrfsTer17
ENST00000256474.2:c.553del	ENSP00000256474.2:p.Tyr185ThrfsTer17
ENST00000345392.2:c.430del	ENSP00000344757.2:p.Tyr144ThrfsTer17
ENST00000477538.1:n.689del
NM_000551.3:c.553del , LRG_322t1:c.553del	NP_000542.1:p.Tyr185ThrfsTer17
NM_198156.2:c.430del	NP_937799.1:p.Tyr144ThrfsTer17
NM_001354723.1:c.*107del	NP_001341652.1:n.*107del
NM_000551.4:c.553del MANE Select	NP_000542.1:p.Tyr185ThrfsTer17
NM_001354723.2:c.*107del	NP_001341652.1:n.*107del
NM_198156.3:c.430del	NP_937799.1:p.Tyr144ThrfsTer17