Canonical Allele Identifier: CA645525073

Gene: VHL

Linked Data

• COSMIC: COSM30251

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149823_10149824del , CM000665.2:g.10149823_10149824del	GRCh38
NC_000003.11:g.10191507_10191508del , CM000665.1:g.10191507_10191508del	GRCh37
NC_000003.10:g.10166507_10166508del	NCBI36
NG_008212.3:g.13189_13190del , LRG_322:g.13189_13190del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*177_*178del	ENSP00000512434.1:n.*177_*178del
ENST00000696143.1:c.636_637del	ENSP00000512435.1:n.636_637del
ENST00000696153.1:c.611_612del	ENSP00000512444.1:p.Arg204GlnfsTer6
ENST00000256474.3:c.500_501del MANE Select	ENSP00000256474.3:p.Arg167GlnfsTer6
ENST00000256474.2:c.500_501del	ENSP00000256474.2:p.Arg167GlnfsTer6
ENST00000345392.2:c.377_378del	ENSP00000344757.2:p.Arg126GlnfsTer6
ENST00000477538.1:n.636_637del
NM_000551.3:c.500_501del , LRG_322t1:c.500_501del	NP_000542.1:p.Arg167GlnfsTer6
NM_198156.2:c.377_378del	NP_937799.1:p.Arg126GlnfsTer6
NM_001354723.1:c.*54_*55del	NP_001341652.1:n.*54_*55del
NM_000551.4:c.500_501del MANE Select	NP_000542.1:p.Arg167GlnfsTer6
NM_001354723.2:c.*54_*55del	NP_001341652.1:n.*54_*55del
NM_198156.3:c.377_378del	NP_937799.1:p.Arg126GlnfsTer6