Canonical Allele Identifier: CA357125

Gene: VHL

Linked Data

• ClinVar Variation Id: 223198
• ClinVar RCV Id: RCV000208858 ; RCV001221660 ; RCV001589101
• dbSNP Id: rs869025641
• gnomAD v4: 3-10146525-C-CA
• MyVariant Identifiers: chr3:g.10188209_10188210insA (hg19) ; chr3:g.10146525_10146526insA (hg38)
• CIViC: CA357125

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146525_10146526insA , CM000665.2:g.10146525_10146526insA	GRCh38
NC_000003.11:g.10188209_10188210insA , CM000665.1:g.10188209_10188210insA	GRCh37
NC_000003.10:g.10163209_10163210insA	NCBI36
NG_008212.3:g.9891_9892insA , LRG_322:g.9891_9892insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*29_*30insA	ENSP00000512434.1:n.*29_*30insA
ENST00000696143.1:c.600-3262_600-3261insA	ENSP00000512435.1:n.600-3262_600-3261insA
ENST00000696153.1:c.352_353insA	ENSP00000512444.1:p.Leu118HisfsTer14
ENST00000256474.3:c.352_353insA MANE Select	ENSP00000256474.3:p.Leu118HisfsTer14
ENST00000256474.2:c.352_353insA	ENSP00000256474.2:p.Leu118HisfsTer14
ENST00000345392.2:c.341-3262_341-3261insA	ENSP00000344757.2:n.341-3262_341-3261insA
ENST00000477538.1:n.488_489insA
NM_000551.3:c.352_353insA , LRG_322t1:c.352_353insA	NP_000542.1:p.Leu118HisfsTer14
NM_198156.2:c.341-3262_341-3261insA	NP_937799.1:n.341-3262_341-3261insA
XM_011534078.1:c.*29_*30insA	XP_011532380.1:n.*29_*30insA
NM_001354723.1:c.*18-3262_*18-3261insA	NP_001341652.1:n.*18-3262_*18-3261insA
NM_000551.4:c.352_353insA MANE Select	NP_000542.1:p.Leu118HisfsTer14
NM_001354723.2:c.*18-3262_*18-3261insA	NP_001341652.1:n.*18-3262_*18-3261insA
NM_198156.3:c.341-3262_341-3261insA	NP_937799.1:n.341-3262_341-3261insA