Canonical Allele Identifier: CA645529558

Gene: VHL

Linked Data

• COSMIC: COSM25694

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149887_10149888del , CM000665.2:g.10149887_10149888del	GRCh38
NC_000003.11:g.10191571_10191572del , CM000665.1:g.10191571_10191572del	GRCh37
NC_000003.10:g.10166571_10166572del	NCBI36
NG_008212.3:g.13253_13254del , LRG_322:g.13253_13254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*241_*242del	ENSP00000512434.1:n.*241_*242del
ENST00000696143.1:c.700_701del	ENSP00000512435.1:n.700_701del
ENST00000696153.1:c.675_676del	ENSP00000512444.1:p.Glu226ArgfsTer?
ENST00000256474.3:c.564_565del MANE Select	ENSP00000256474.3:p.Glu189ArgfsTer?
ENST00000256474.2:c.564_565del	ENSP00000256474.2:p.Glu189ArgfsTer?
ENST00000345392.2:c.441_442del	ENSP00000344757.2:p.Glu148ArgfsTer?
ENST00000477538.1:n.700_701del
NM_000551.3:c.564_565del , LRG_322t1:c.564_565del	NP_000542.1:p.Glu189ArgfsTer?
NM_198156.2:c.441_442del	NP_937799.1:p.Glu148ArgfsTer?
NM_001354723.1:c.*118_*119del	NP_001341652.1:n.*118_*119del
NM_000551.4:c.564_565del MANE Select	NP_000542.1:p.Glu189ArgfsTer?
NM_001354723.2:c.*118_*119del	NP_001341652.1:n.*118_*119del
NM_198156.3:c.441_442del	NP_937799.1:p.Glu148ArgfsTer?