Canonical Allele Identifier: CA645525082

Gene: VHL

Linked Data

• COSMIC: COSM253383

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149837_10149842del , CM000665.2:g.10149837_10149842del	GRCh38
NC_000003.11:g.10191521_10191526del , CM000665.1:g.10191521_10191526del	GRCh37
NC_000003.10:g.10166521_10166526del	NCBI36
NG_008212.3:g.13203_13208del , LRG_322:g.13203_13208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*191_*196del	ENSP00000512434.1:n.*191_*196del
ENST00000696143.1:c.650_655del	ENSP00000512435.1:n.650_655del
ENST00000696153.1:c.625_630del	ENSP00000512444.1:p.Pro209_Glu210del
ENST00000256474.3:c.514_519del MANE Select	ENSP00000256474.3:p.Pro172_Glu173del
ENST00000256474.2:c.514_519del	ENSP00000256474.2:p.Pro172_Glu173del
ENST00000345392.2:c.391_396del	ENSP00000344757.2:p.Pro131_Glu132del
ENST00000477538.1:n.650_655del
NM_000551.3:c.514_519del , LRG_322t1:c.514_519del	NP_000542.1:p.Pro172_Glu173del
NM_198156.2:c.391_396del	NP_937799.1:p.Pro131_Glu132del
NM_001354723.1:c.*68_*73del	NP_001341652.1:n.*68_*73del
NM_000551.4:c.514_519del MANE Select	NP_000542.1:p.Pro172_Glu173del
NM_001354723.2:c.*68_*73del	NP_001341652.1:n.*68_*73del
NM_198156.3:c.391_396del	NP_937799.1:p.Pro131_Glu132del