Canonical Allele Identifier: CA541213517

Gene: VHL

Linked Data

• ClinVar Variation Id: 822886
• ClinVar RCV Id: RCV001018627 ; RCV003769508
• dbSNP Id: rs1559425474
• gnomAD v2: 3-10183537-C-CCGGG
• gnomAD v4: 3-10141853-C-CCGGG
• MyVariant Identifiers: chr3:g.10183537_10183538insCGGG (hg19) ; chr3:g.10141853_10141854insCGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141856_10141857insGCGG , CM000665.2:g.10141856_10141857insGCGG	GRCh38
NC_000003.11:g.10183540_10183541insGCGG , CM000665.1:g.10183540_10183541insGCGG	GRCh37
NC_000003.10:g.10158540_10158541insGCGG	NCBI36
NG_008212.3:g.5222_5223insGCGG , LRG_322:g.5222_5223insGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.9_10insGCGG	ENSP00000512434.1:p.Arg4AlafsTer24
ENST00000696143.1:c.9_10insGCGG	ENSP00000512435.1:p.Arg4AlafsTer24
ENST00000696153.1:c.9_10insGCGG	ENSP00000512444.1:p.Arg4AlafsTer24
ENST00000256474.3:c.9_10insGCGG MANE Select	ENSP00000256474.3:p.Arg4AlafsTer24
ENST00000256474.2:c.9_10insGCGG	ENSP00000256474.2:p.Arg4AlafsTer24
ENST00000345392.2:c.9_10insGCGG	ENSP00000344757.2:p.Arg4AlafsTer24
NM_000551.3:c.9_10insGCGG , LRG_322t1:c.9_10insGCGG	NP_000542.1:p.Arg4AlafsTer24
NM_198156.2:c.9_10insGCGG	NP_937799.1:p.Arg4AlafsTer24
XM_011534078.1:c.9_10insGCGG	XP_011532380.1:p.Arg4AlafsTer24
NM_001354723.1:c.9_10insGCGG	NP_001341652.1:p.Arg4AlafsTer24
NM_000551.4:c.9_10insGCGG MANE Select	NP_000542.1:p.Arg4AlafsTer24
NM_001354723.2:c.9_10insGCGG	NP_001341652.1:p.Arg4AlafsTer24
NM_198156.3:c.9_10insGCGG	NP_937799.1:p.Arg4AlafsTer24