Canonical Allele Identifier: CA2573052052

Gene: VHL

Linked Data

• ClinVar Variation Id: 1311090
• ClinVar RCV Id: RCV001758599
• dbSNP Id: rs2125124326

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141833_10141851delinsCGGCCCGGGTGGTCTGGTCTCCG , CM000665.2:g.10141833_10141851delinsCGGCCCGGGTGGTCTGGTCTCCG	GRCh38
NC_000003.11:g.10183517_10183535delinsCGGCCCGGGTGGTCTGGTCTCCG , CM000665.1:g.10183517_10183535delinsCGGCCCGGGTGGTCTGGTCTCCG	GRCh37
NC_000003.10:g.10158517_10158535delinsCGGCCCGGGTGGTCTGGTCTCCG	NCBI36
NG_008212.3:g.5199_5217delinsCGGCCCGGGTGGTCTGGTCTCCG , LRG_322:g.5199_5217delinsCGGCCCGGGTGGTCTGGTCTCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG
ENST00000696153.1:c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG
ENST00000256474.3:c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG
ENST00000256474.2:c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG
ENST00000345392.2:c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG
NM_000551.3:c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG , LRG_322t1:c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG
NM_198156.2:c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG
XM_011534078.1:c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG
NM_001354723.1:c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG
NM_000551.4:c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG
NM_001354723.2:c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG
NM_198156.3:c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG