Canonical Allele Identifier: CA432423055

Gene: VHL

Linked Data

• COSMIC: COSM22469
• MyVariant Identifiers: chr3:g.10191474del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149790del , CM000665.2:g.10149790del	GRCh38
NC_000003.11:g.10191474del , CM000665.1:g.10191474del	GRCh37
NC_000003.10:g.10166474del	NCBI36
NG_008212.3:g.13156del , LRG_322:g.13156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*144del	ENSP00000512434.1:n.*144del
ENST00000696143.1:c.603del	ENSP00000512435.1:n.603del
ENST00000696153.1:c.578del	ENSP00000512444.1:p.Tyr193LeufsTer3
ENST00000256474.3:c.467del MANE Select	ENSP00000256474.3:p.Tyr156LeufsTer3
ENST00000256474.2:c.467del	ENSP00000256474.2:p.Tyr156LeufsTer3
ENST00000345392.2:c.344del	ENSP00000344757.2:p.Tyr115LeufsTer3
ENST00000477538.1:n.603del
NM_000551.3:c.467del , LRG_322t1:c.467del	NP_000542.1:p.Tyr156LeufsTer3
NM_198156.2:c.344del	NP_937799.1:p.Tyr115LeufsTer3
NM_001354723.1:c.*21del	NP_001341652.1:n.*21del
NM_000551.4:c.467del MANE Select	NP_000542.1:p.Tyr156LeufsTer3
NM_001354723.2:c.*21del	NP_001341652.1:n.*21del
NM_198156.3:c.344del	NP_937799.1:p.Tyr115LeufsTer3