Canonical Allele Identifier: CA432423141

Gene: VHL

Linked Data

• COSMIC: COSM423207
• MyVariant Identifiers: chr3:g.10191488del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149804del , CM000665.2:g.10149804del	GRCh38
NC_000003.11:g.10191488del , CM000665.1:g.10191488del	GRCh37
NC_000003.10:g.10166488del	NCBI36
NG_008212.3:g.13170del , LRG_322:g.13170del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*158del	ENSP00000512434.1:n.*158del
ENST00000696143.1:c.617del	ENSP00000512435.1:n.617del
ENST00000696153.1:c.592del	ENSP00000512444.1:p.Arg198AspfsTer9
ENST00000256474.3:c.481del MANE Select	ENSP00000256474.3:p.Arg161AspfsTer9
ENST00000256474.2:c.481del	ENSP00000256474.2:p.Arg161AspfsTer9
ENST00000345392.2:c.358del	ENSP00000344757.2:p.Arg120AspfsTer9
ENST00000477538.1:n.617del
NM_000551.3:c.481del , LRG_322t1:c.481del	NP_000542.1:p.Arg161AspfsTer9
NM_198156.2:c.358del	NP_937799.1:p.Arg120AspfsTer9
NM_001354723.1:c.*35del	NP_001341652.1:n.*35del
NM_000551.4:c.481del MANE Select	NP_000542.1:p.Arg161AspfsTer9
NM_001354723.2:c.*35del	NP_001341652.1:n.*35del
NM_198156.3:c.358del	NP_937799.1:p.Arg120AspfsTer9