Canonical Allele Identifier: CA645525072

Gene: VHL

Linked Data

• COSMIC: COSM1732005

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149822_10149823del , CM000665.2:g.10149822_10149823del	GRCh38
NC_000003.11:g.10191506_10191507del , CM000665.1:g.10191506_10191507del	GRCh37
NC_000003.10:g.10166506_10166507del	NCBI36
NG_008212.3:g.13188_13189del , LRG_322:g.13188_13189del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*176_*177del	ENSP00000512434.1:n.*176_*177del
ENST00000696143.1:c.635_636del	ENSP00000512435.1:n.635_636del
ENST00000696153.1:c.610_611del	ENSP00000512444.1:p.Arg204GlufsTer6
ENST00000256474.3:c.499_500del MANE Select	ENSP00000256474.3:p.Arg167GlufsTer6
ENST00000256474.2:c.499_500del	ENSP00000256474.2:p.Arg167GlufsTer6
ENST00000345392.2:c.376_377del	ENSP00000344757.2:p.Arg126GlufsTer6
ENST00000477538.1:n.635_636del
NM_000551.3:c.499_500del , LRG_322t1:c.499_500del	NP_000542.1:p.Arg167GlufsTer6
NM_198156.2:c.376_377del	NP_937799.1:p.Arg126GlufsTer6
NM_001354723.1:c.*53_*54del	NP_001341652.1:n.*53_*54del
NM_000551.4:c.499_500del MANE Select	NP_000542.1:p.Arg167GlufsTer6
NM_001354723.2:c.*53_*54del	NP_001341652.1:n.*53_*54del
NM_198156.3:c.376_377del	NP_937799.1:p.Arg126GlufsTer6