Canonical Allele Identifier: CA357039

Gene: VHL

Linked Data

• ClinVar Variation Id: 223207
• ClinVar RCV Id: RCV000208805 ; RCV000631281
• dbSNP Id: rs869025649
• COSMIC: COSM17930 ; COSM18050
• MyVariant Identifiers: chr3:g.10188276_10188277del (hg19) ; chr3:g.10146592_10146593del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146592_10146593del , CM000665.2:g.10146592_10146593del	GRCh38
NC_000003.11:g.10188276_10188277del , CM000665.1:g.10188276_10188277del	GRCh37
NC_000003.10:g.10163276_10163277del	NCBI36
NG_008212.3:g.9958_9959del , LRG_322:g.9958_9959del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*96_*97del	ENSP00000512434.1:n.*96_*97del
ENST00000696143.1:c.600-3195_600-3194del	ENSP00000512435.1:n.600-3195_600-3194del
ENST00000696153.1:c.419_420del	ENSP00000512444.1:p.Leu140GlnfsTer3
ENST00000256474.3:c.419_420del MANE Select	ENSP00000256474.3:p.Leu140GlnfsTer3
ENST00000256474.2:c.419_420del	ENSP00000256474.2:p.Leu140GlnfsTer3
ENST00000345392.2:c.341-3195_341-3194del	ENSP00000344757.2:n.341-3195_341-3194del
ENST00000477538.1:n.555_556del
NM_000551.3:c.419_420del , LRG_322t1:c.419_420del	NP_000542.1:p.Leu140GlnfsTer3
NM_198156.2:c.341-3195_341-3194del	NP_937799.1:n.341-3195_341-3194del
XM_011534078.1:c.*96_*97del	XP_011532380.1:n.*96_*97del
NM_001354723.1:c.*18-3195_*18-3194del	NP_001341652.1:n.*18-3195_*18-3194del
NM_000551.4:c.419_420del MANE Select	NP_000542.1:p.Leu140GlnfsTer3
NM_001354723.2:c.*18-3195_*18-3194del	NP_001341652.1:n.*18-3195_*18-3194del
NM_198156.3:c.341-3195_341-3194del	NP_937799.1:n.341-3195_341-3194del