Canonical Allele Identifier: CA2499216349

Gene: VHL

Linked Data

• ClinVar Variation Id: 1119280
• ClinVar RCV Id: RCV001448658
• dbSNP Id: rs2125124945

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142033_10142034delinsTT , CM000665.2:g.10142033_10142034delinsTT	GRCh38
NC_000003.11:g.10183717_10183718delinsTT , CM000665.1:g.10183717_10183718delinsTT	GRCh37
NC_000003.10:g.10158717_10158718delinsTT	NCBI36
NG_008212.3:g.5399_5400delinsTT , LRG_322:g.5399_5400delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.186_187delinsTT	ENSP00000512434.1:p.Val62=
ENST00000696143.1:c.186_187delinsTT	ENSP00000512435.1:p.Val62=
ENST00000696153.1:c.186_187delinsTT	ENSP00000512444.1:p.Val62=
ENST00000256474.3:c.186_187delinsTT MANE Select	ENSP00000256474.3:p.Val62=
ENST00000256474.2:c.186_187delinsTT	ENSP00000256474.2:p.Val62=
ENST00000345392.2:c.186_187delinsTT	ENSP00000344757.2:p.Val62=
NM_000551.3:c.186_187delinsTT , LRG_322t1:c.186_187delinsTT	NP_000542.1:p.Val62=
NM_198156.2:c.186_187delinsTT	NP_937799.1:p.Val62=
XM_011534078.1:c.186_187delinsTT	XP_011532380.1:p.Val62=
NM_001354723.1:c.186_187delinsTT	NP_001341652.1:p.Val62=
NM_000551.4:c.186_187delinsTT MANE Select	NP_000542.1:p.Val62=
NM_001354723.2:c.186_187delinsTT	NP_001341652.1:p.Val62=
NM_198156.3:c.186_187delinsTT	NP_937799.1:p.Val62=