Canonical Allele Identifier: CA645529571

Gene: VHL

Linked Data

• COSMIC: COSM4770215

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149910_10149919del , CM000665.2:g.10149910_10149919del	GRCh38
NC_000003.11:g.10191594_10191603del , CM000665.1:g.10191594_10191603del	GRCh37
NC_000003.10:g.10166594_10166603del	NCBI36
NG_008212.3:g.13276_13285del , LRG_322:g.13276_13285del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*264_*273del	ENSP00000512434.1:n.*264_*273del
ENST00000696143.1:c.723_732del	ENSP00000512435.1:n.723_732del
ENST00000696153.1:c.698_707del	ENSP00000512444.1:p.Lys233SerfsTer3
ENST00000256474.3:c.587_596del MANE Select	ENSP00000256474.3:p.Lys196SerfsTer3
ENST00000256474.2:c.587_596del	ENSP00000256474.2:p.Lys196SerfsTer3
ENST00000345392.2:c.464_473del	ENSP00000344757.2:p.Lys155SerfsTer3
ENST00000477538.1:n.723_732del
NM_000551.3:c.587_596del , LRG_322t1:c.587_596del	NP_000542.1:p.Lys196SerfsTer3
NM_198156.2:c.464_473del	NP_937799.1:p.Lys155SerfsTer3
NM_001354723.1:c.*141_*150del	NP_001341652.1:n.*141_*150del
NM_000551.4:c.587_596del MANE Select	NP_000542.1:p.Lys196SerfsTer3
NM_001354723.2:c.*141_*150del	NP_001341652.1:n.*141_*150del
NM_198156.3:c.464_473del	NP_937799.1:p.Lys155SerfsTer3