Canonical Allele Identifier: CA432421856

Gene: VHL

Linked Data

• ClinVar Variation Id: 2952792
• ClinVar RCV Id: RCV003817926
• COSMIC: COSM17929 ; COSM18014 ; COSM33999
• MyVariant Identifiers: chr3:g.10188264_10188265insT (hg19) ; chr3:g.10188263_10188264insT (hg19) ; chr3:g.10188262_10188263insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146581dup , CM000665.2:g.10146581dup	GRCh38
NC_000003.11:g.10188265dup , CM000665.1:g.10188265dup	GRCh37
NC_000003.10:g.10163265dup	NCBI36
NG_008212.3:g.9947dup , LRG_322:g.9947dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*85dup	ENSP00000512434.1:n.*85dup
ENST00000696143.1:c.600-3206dup	ENSP00000512435.1:n.600-3206dup
ENST00000696153.1:c.408dup	ENSP00000512444.1:p.Val137CysfsTer7
ENST00000256474.3:c.408dup MANE Select	ENSP00000256474.3:p.Val137CysfsTer7
ENST00000256474.2:c.408dup	ENSP00000256474.2:p.Val137CysfsTer7
ENST00000345392.2:c.341-3206dup	ENSP00000344757.2:n.341-3206dup
ENST00000477538.1:n.544dup
NM_000551.3:c.408dup , LRG_322t1:c.408dup	NP_000542.1:p.Val137CysfsTer7
NM_198156.2:c.341-3206dup	NP_937799.1:n.341-3206dup
XM_011534078.1:c.*85dup	XP_011532380.1:n.*85dup
NM_001354723.1:c.*18-3206dup	NP_001341652.1:n.*18-3206dup
NM_000551.4:c.408dup MANE Select	NP_000542.1:p.Val137CysfsTer7
NM_001354723.2:c.*18-3206dup	NP_001341652.1:n.*18-3206dup
NM_198156.3:c.341-3206dup	NP_937799.1:n.341-3206dup