Canonical Allele Identifier: CA2586965661

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149798_10149816del , CM000665.2:g.10149798_10149816del	GRCh38
NC_000003.11:g.10191482_10191500del , CM000665.1:g.10191482_10191500del	GRCh37
NC_000003.10:g.10166482_10166500del	NCBI36
NG_008212.3:g.13164_13182del , LRG_322:g.13164_13182del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*152_*170del	ENSP00000512434.1:n.*152_*170del
ENST00000696143.1:c.611_629del	ENSP00000512435.1:n.611_629del
ENST00000696153.1:c.586_604del	ENSP00000512444.1:p.Lys196LeufsTer5
ENST00000256474.3:c.475_493del MANE Select	ENSP00000256474.3:p.Lys159LeufsTer5
ENST00000256474.2:c.475_493del	ENSP00000256474.2:p.Lys159LeufsTer5
ENST00000345392.2:c.352_370del	ENSP00000344757.2:p.Lys118LeufsTer5
ENST00000477538.1:n.611_629del
NM_000551.3:c.475_493del , LRG_322t1:c.475_493del	NP_000542.1:p.Lys159LeufsTer5
NM_198156.2:c.352_370del	NP_937799.1:p.Lys118LeufsTer5
NM_001354723.1:c.*29_*47del	NP_001341652.1:n.*29_*47del
NM_000551.4:c.475_493del MANE Select	NP_000542.1:p.Lys159LeufsTer5
NM_001354723.2:c.*29_*47del	NP_001341652.1:n.*29_*47del
NM_198156.3:c.352_370del	NP_937799.1:p.Lys118LeufsTer5