Canonical Allele Identifier: CA1345062251

Gene: VHL

Linked Data

• ClinVar Variation Id: 1012181
• ClinVar RCV Id: RCV001310082
• dbSNP Id: rs1696355550

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149807del , CM000665.2:g.10149807del	GRCh38
NC_000003.11:g.10191491del , CM000665.1:g.10191491del	GRCh37
NC_000003.10:g.10166491del	NCBI36
NG_008212.3:g.13173del , LRG_322:g.13173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*161del	ENSP00000512434.1:n.*161del
ENST00000696143.1:c.620del	ENSP00000512435.1:n.620del
ENST00000696153.1:c.595del	ENSP00000512444.1:p.Cys199AlafsTer8
ENST00000256474.3:c.484del MANE Select	ENSP00000256474.3:p.Cys162AlafsTer8
ENST00000256474.2:c.484del	ENSP00000256474.2:p.Cys162AlafsTer8
ENST00000345392.2:c.361del	ENSP00000344757.2:p.Cys121AlafsTer8
ENST00000477538.1:n.620del
NM_000551.3:c.484del , LRG_322t1:c.484del	NP_000542.1:p.Cys162AlafsTer8
NM_198156.2:c.361del	NP_937799.1:p.Cys121AlafsTer8
NM_001354723.1:c.*38del	NP_001341652.1:n.*38del
NM_000551.4:c.484del MANE Select	NP_000542.1:p.Cys162AlafsTer8
NM_001354723.2:c.*38del	NP_001341652.1:n.*38del
NM_198156.3:c.361del	NP_937799.1:p.Cys121AlafsTer8