Canonical Allele Identifier: CA645525087

Gene: VHL

Linked Data

• COSMIC: COSM17915

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149839_10149848del , CM000665.2:g.10149839_10149848del	GRCh38
NC_000003.11:g.10191523_10191532del , CM000665.1:g.10191523_10191532del	GRCh37
NC_000003.10:g.10166523_10166532del	NCBI36
NG_008212.3:g.13205_13214del , LRG_322:g.13205_13214del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*193_*202del	ENSP00000512434.1:n.*193_*202del
ENST00000696143.1:c.652_661del	ENSP00000512435.1:n.652_661del
ENST00000696153.1:c.627_636del	ENSP00000512444.1:p.Glu210GlyfsTer26
ENST00000256474.3:c.516_525del MANE Select	ENSP00000256474.3:p.Glu173GlyfsTer26
ENST00000256474.2:c.516_525del	ENSP00000256474.2:p.Glu173GlyfsTer26
ENST00000345392.2:c.393_402del	ENSP00000344757.2:p.Glu132GlyfsTer26
ENST00000477538.1:n.652_661del
NM_000551.3:c.516_525del , LRG_322t1:c.516_525del	NP_000542.1:p.Glu173GlyfsTer26
NM_198156.2:c.393_402del	NP_937799.1:p.Glu132GlyfsTer26
NM_001354723.1:c.*70_*79del	NP_001341652.1:n.*70_*79del
NM_000551.4:c.516_525del MANE Select	NP_000542.1:p.Glu173GlyfsTer26
NM_001354723.2:c.*70_*79del	NP_001341652.1:n.*70_*79del
NM_198156.3:c.393_402del	NP_937799.1:p.Glu132GlyfsTer26