Canonical Allele Identifier: CA645529547

Gene: VHL

Linked Data

• COSMIC: COSM17985

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149880_10149884del , CM000665.2:g.10149880_10149884del	GRCh38
NC_000003.11:g.10191564_10191568del , CM000665.1:g.10191564_10191568del	GRCh37
NC_000003.10:g.10166564_10166568del	NCBI36
NG_008212.3:g.13246_13250del , LRG_322:g.13246_13250del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*234_*238del	ENSP00000512434.1:n.*234_*238del
ENST00000696143.1:c.693_697del	ENSP00000512435.1:n.693_697del
ENST00000696153.1:c.668_672del	ENSP00000512444.1:p.Glu223AlafsTer?
ENST00000256474.3:c.557_561del MANE Select	ENSP00000256474.3:p.Glu186AlafsTer?
ENST00000256474.2:c.557_561del	ENSP00000256474.2:p.Glu186AlafsTer?
ENST00000345392.2:c.434_438del	ENSP00000344757.2:p.Glu145AlafsTer?
ENST00000477538.1:n.693_697del
NM_000551.3:c.557_561del , LRG_322t1:c.557_561del	NP_000542.1:p.Glu186AlafsTer?
NM_198156.2:c.434_438del	NP_937799.1:p.Glu145AlafsTer?
NM_001354723.1:c.*111_*115del	NP_001341652.1:n.*111_*115del
NM_000551.4:c.557_561del MANE Select	NP_000542.1:p.Glu186AlafsTer?
NM_001354723.2:c.*111_*115del	NP_001341652.1:n.*111_*115del
NM_198156.3:c.434_438del	NP_937799.1:p.Glu145AlafsTer?