Canonical Allele Identifier: CA645529535

Gene: VHL

Linked Data

• COSMIC: COSM6023878

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149867del , CM000665.2:g.10149867del	GRCh38
NC_000003.11:g.10191551del , CM000665.1:g.10191551del	GRCh37
NC_000003.10:g.10166551del	NCBI36
NG_008212.3:g.13233del , LRG_322:g.13233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*221del	ENSP00000512434.1:n.*221del
ENST00000696143.1:c.680del	ENSP00000512435.1:n.680del
ENST00000696153.1:c.655del	ENSP00000512444.1:p.Arg219GlyfsTer20
ENST00000256474.3:c.544del MANE Select	ENSP00000256474.3:p.Arg182GlyfsTer20
ENST00000256474.2:c.544del	ENSP00000256474.2:p.Arg182GlyfsTer20
ENST00000345392.2:c.421del	ENSP00000344757.2:p.Arg141GlyfsTer20
ENST00000477538.1:n.680del
NM_000551.3:c.544del , LRG_322t1:c.544del	NP_000542.1:p.Arg182GlyfsTer20
NM_198156.2:c.421del	NP_937799.1:p.Arg141GlyfsTer20
NM_001354723.1:c.*98del	NP_001341652.1:n.*98del
NM_000551.4:c.544del MANE Select	NP_000542.1:p.Arg182GlyfsTer20
NM_001354723.2:c.*98del	NP_001341652.1:n.*98del
NM_198156.3:c.421del	NP_937799.1:p.Arg141GlyfsTer20