Canonical Allele Identifier: CA432423177

Gene: VHL

Linked Data

• COSMIC: COSM17783
• MyVariant Identifiers: chr3:g.10191494del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149810del , CM000665.2:g.10149810del	GRCh38
NC_000003.11:g.10191494del , CM000665.1:g.10191494del	GRCh37
NC_000003.10:g.10166494del	NCBI36
NG_008212.3:g.13176del , LRG_322:g.13176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*164del	ENSP00000512434.1:n.*164del
ENST00000696143.1:c.623del	ENSP00000512435.1:n.623del
ENST00000696153.1:c.598del	ENSP00000512444.1:p.Leu200SerfsTer7
ENST00000256474.3:c.487del MANE Select	ENSP00000256474.3:p.Leu163SerfsTer7
ENST00000256474.2:c.487del	ENSP00000256474.2:p.Leu163SerfsTer7
ENST00000345392.2:c.364del	ENSP00000344757.2:p.Leu122SerfsTer7
ENST00000477538.1:n.623del
NM_000551.3:c.487del , LRG_322t1:c.487del	NP_000542.1:p.Leu163SerfsTer7
NM_198156.2:c.364del	NP_937799.1:p.Leu122SerfsTer7
NM_001354723.1:c.*41del	NP_001341652.1:n.*41del
NM_000551.4:c.487del MANE Select	NP_000542.1:p.Leu163SerfsTer7
NM_001354723.2:c.*41del	NP_001341652.1:n.*41del
NM_198156.3:c.364del	NP_937799.1:p.Leu122SerfsTer7