Canonical Allele Identifier: CA432423423

Gene: VHL

Linked Data

• COSMIC: COSM14388
• MyVariant Identifiers: chr3:g.10191530del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149846del , CM000665.2:g.10149846del	GRCh38
NC_000003.11:g.10191530del , CM000665.1:g.10191530del	GRCh37
NC_000003.10:g.10166530del	NCBI36
NG_008212.3:g.13212del , LRG_322:g.13212del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*200del	ENSP00000512434.1:n.*200del
ENST00000696143.1:c.659del	ENSP00000512435.1:n.659del
ENST00000696153.1:c.634del	ENSP00000512444.1:p.Tyr212ThrfsTer27
ENST00000256474.3:c.523del MANE Select	ENSP00000256474.3:p.Tyr175ThrfsTer27
ENST00000256474.2:c.523del	ENSP00000256474.2:p.Tyr175ThrfsTer27
ENST00000345392.2:c.400del	ENSP00000344757.2:p.Tyr134ThrfsTer27
ENST00000477538.1:n.659del
NM_000551.3:c.523del , LRG_322t1:c.523del	NP_000542.1:p.Tyr175ThrfsTer27
NM_198156.2:c.400del	NP_937799.1:p.Tyr134ThrfsTer27
NM_001354723.1:c.*77del	NP_001341652.1:n.*77del
NM_000551.4:c.523del MANE Select	NP_000542.1:p.Tyr175ThrfsTer27
NM_001354723.2:c.*77del	NP_001341652.1:n.*77del
NM_198156.3:c.400del	NP_937799.1:p.Tyr134ThrfsTer27