Canonical Allele Identifier: CA645529573

Gene: VHL

Linked Data

• COSMIC: COSM17922

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149910_10149916del , CM000665.2:g.10149910_10149916del	GRCh38
NC_000003.11:g.10191594_10191600del , CM000665.1:g.10191594_10191600del	GRCh37
NC_000003.10:g.10166594_10166600del	NCBI36
NG_008212.3:g.13276_13282del , LRG_322:g.13276_13282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*264_*270del	ENSP00000512434.1:n.*264_*270del
ENST00000696143.1:c.723_729del	ENSP00000512435.1:n.723_729del
ENST00000696153.1:c.698_704del	ENSP00000512444.1:p.Lys233ArgfsTer4
ENST00000256474.3:c.587_593del MANE Select	ENSP00000256474.3:p.Lys196ArgfsTer4
ENST00000256474.2:c.587_593del	ENSP00000256474.2:p.Lys196ArgfsTer4
ENST00000345392.2:c.464_470del	ENSP00000344757.2:p.Lys155ArgfsTer4
ENST00000477538.1:n.723_729del
NM_000551.3:c.587_593del , LRG_322t1:c.587_593del	NP_000542.1:p.Lys196ArgfsTer4
NM_198156.2:c.464_470del	NP_937799.1:p.Lys155ArgfsTer4
NM_001354723.1:c.*141_*147del	NP_001341652.1:n.*141_*147del
NM_000551.4:c.587_593del MANE Select	NP_000542.1:p.Lys196ArgfsTer4
NM_001354723.2:c.*141_*147del	NP_001341652.1:n.*141_*147del
NM_198156.3:c.464_470del	NP_937799.1:p.Lys155ArgfsTer4