Canonical Allele Identifier: CA70042461

Gene: VHL

Linked Data

• dbSNP Id: rs5030651
• COSMIC: COSM17679 ; COSM17860
• MyVariant Identifiers: chr3:g.10183714del (hg19) ; chr3:g.10183712del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142030del , CM000665.2:g.10142030del	GRCh38
NC_000003.11:g.10183714del , CM000665.1:g.10183714del	GRCh37
NC_000003.10:g.10158714del	NCBI36
NG_008212.3:g.5396del , LRG_322:g.5396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.183del	ENSP00000512434.1:p.Val62CysfsTer5
ENST00000696143.1:c.183del	ENSP00000512435.1:p.Val62CysfsTer5
ENST00000696153.1:c.183del	ENSP00000512444.1:p.Val62CysfsTer5
ENST00000256474.3:c.183del MANE Select	ENSP00000256474.3:p.Val62CysfsTer5
ENST00000256474.2:c.183del	ENSP00000256474.2:p.Val62CysfsTer5
ENST00000345392.2:c.183del	ENSP00000344757.2:p.Val62CysfsTer5
NM_000551.3:c.183del , LRG_322t1:c.183del	NP_000542.1:p.Val62CysfsTer5
NM_198156.2:c.183del	NP_937799.1:p.Val62CysfsTer5
XM_011534078.1:c.183del	XP_011532380.1:p.Val62CysfsTer5
NM_001354723.1:c.183del	NP_001341652.1:p.Val62CysfsTer5
NM_000551.4:c.183del MANE Select	NP_000542.1:p.Val62CysfsTer5
NM_001354723.2:c.183del	NP_001341652.1:p.Val62CysfsTer5
NM_198156.3:c.183del	NP_937799.1:p.Val62CysfsTer5