Canonical Allele Identifier: CA645525070

Gene: VHL

Linked Data

• COSMIC: COSM3734697

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149819_10149820del , CM000665.2:g.10149819_10149820del	GRCh38
NC_000003.11:g.10191503_10191504del , CM000665.1:g.10191503_10191504del	GRCh37
NC_000003.10:g.10166503_10166504del	NCBI36
NG_008212.3:g.13185_13186del , LRG_322:g.13185_13186del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*173_*174del	ENSP00000512434.1:n.*173_*174del
ENST00000696143.1:c.632_633del	ENSP00000512435.1:n.632_633del
ENST00000696153.1:c.607_608del	ENSP00000512444.1:p.Val203ProfsTer7
ENST00000256474.3:c.496_497del MANE Select	ENSP00000256474.3:p.Val166ProfsTer7
ENST00000256474.2:c.496_497del	ENSP00000256474.2:p.Val166ProfsTer7
ENST00000345392.2:c.373_374del	ENSP00000344757.2:p.Val125ProfsTer7
ENST00000477538.1:n.632_633del
NM_000551.3:c.496_497del , LRG_322t1:c.496_497del	NP_000542.1:p.Val166ProfsTer7
NM_198156.2:c.373_374del	NP_937799.1:p.Val125ProfsTer7
NM_001354723.1:c.*50_*51del	NP_001341652.1:n.*50_*51del
NM_000551.4:c.496_497del MANE Select	NP_000542.1:p.Val166ProfsTer7
NM_001354723.2:c.*50_*51del	NP_001341652.1:n.*50_*51del
NM_198156.3:c.373_374del	NP_937799.1:p.Val125ProfsTer7