Canonical Allele Identifier: CA432423686

Gene: VHL

Linked Data

• ClinVar Variation Id: 625267
• ClinVar RCV Id: RCV000767295
• dbSNP Id: rs1559429829
• COSMIC: COSM17847
• MyVariant Identifiers: chr3:g.10191572del (hg19)
• CIViC: CA432423686

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149888del , CM000665.2:g.10149888del	GRCh38
NC_000003.11:g.10191572del , CM000665.1:g.10191572del	GRCh37
NC_000003.10:g.10166572del	NCBI36
NG_008212.3:g.13254del , LRG_322:g.13254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*242del	ENSP00000512434.1:n.*242del
ENST00000696143.1:c.701del	ENSP00000512435.1:n.701del
ENST00000696153.1:c.676del	ENSP00000512444.1:p.Glu226LysfsTer13
ENST00000256474.3:c.565del MANE Select	ENSP00000256474.3:p.Glu189LysfsTer13
ENST00000256474.2:c.565del	ENSP00000256474.2:p.Glu189LysfsTer13
ENST00000345392.2:c.442del	ENSP00000344757.2:p.Glu148LysfsTer13
ENST00000477538.1:n.701del
NM_000551.3:c.565del , LRG_322t1:c.565del	NP_000542.1:p.Glu189LysfsTer13
NM_198156.2:c.442del	NP_937799.1:p.Glu148LysfsTer13
NM_001354723.1:c.*119del	NP_001341652.1:n.*119del
NM_000551.4:c.565del MANE Select	NP_000542.1:p.Glu189LysfsTer13
NM_001354723.2:c.*119del	NP_001341652.1:n.*119del
NM_198156.3:c.442del	NP_937799.1:p.Glu148LysfsTer13