Canonical Allele Identifier: CA432423234

Gene: VHL

Linked Data

• COSMIC: COSM1732004
• MyVariant Identifiers: chr3:g.10191501del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149818del , CM000665.2:g.10149818del	GRCh38
NC_000003.11:g.10191502del , CM000665.1:g.10191502del	GRCh37
NC_000003.10:g.10166502del	NCBI36
NG_008212.3:g.13184del , LRG_322:g.13184del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*172del	ENSP00000512434.1:n.*172del
ENST00000696143.1:c.631del	ENSP00000512435.1:n.631del
ENST00000696153.1:c.606del	ENSP00000512444.1:p.Val203SerfsTer4
ENST00000256474.3:c.495del MANE Select	ENSP00000256474.3:p.Val166SerfsTer4
ENST00000256474.2:c.495del	ENSP00000256474.2:p.Val166SerfsTer4
ENST00000345392.2:c.372del	ENSP00000344757.2:p.Val125SerfsTer4
ENST00000477538.1:n.631del
NM_000551.3:c.495del , LRG_322t1:c.495del	NP_000542.1:p.Val166SerfsTer4
NM_198156.2:c.372del	NP_937799.1:p.Val125SerfsTer4
NM_001354723.1:c.*49del	NP_001341652.1:n.*49del
NM_000551.4:c.495del MANE Select	NP_000542.1:p.Val166SerfsTer4
NM_001354723.2:c.*49del	NP_001341652.1:n.*49del
NM_198156.3:c.372del	NP_937799.1:p.Val125SerfsTer4