Canonical Allele Identifier: CA179625

Gene: VHL

Linked Data

• ClinVar Variation Id: 517152
• ClinVar RCV Id: RCV000152655 ; RCV000679012 ; RCV001424163 ; RCV002255477 ; RCV003389724
• dbSNP Id: rs727503743
• gnomAD v2: 3-10183466-C-CTCCGCCCCGCG
• gnomAD v3: 3-10141782-C-CTCCGCCCCGCG
• gnomAD v4: 3-10141782-C-CTCCGCCCCGCG
• MyVariant Identifiers: chr3:g.10183471_10183481dup (hg19) ; chr3:g.10183471_10183481dupCCCCGCGTCCG (hg19) ; chr3:g.10183466_10183467insTCCGCCCCGCG (hg19) ; chr3:g.10141787_10141797dup (hg38) ; chr3:g.10141787_10141797dupCCCCGCGTCCG (hg38) ; chr3:g.10141782_10141783insTCCGCCCCGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141787_10141797dup , CM000665.2:g.10141787_10141797dup	GRCh38
NC_000003.11:g.10183471_10183481dup , CM000665.1:g.10183471_10183481dup	GRCh37
NC_000003.10:g.10158471_10158481dup	NCBI36
NG_008212.3:g.5153_5163dup , LRG_322:g.5153_5163dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696153.1:c.-61_-51dup	ENSP00000512444.1:n.-61_-51dup
ENST00000256474.3:c.-61_-51dup MANE Select	ENSP00000256474.3:n.-61_-51dup
ENST00000256474.2:c.-61_-51dup	ENSP00000256474.2:n.-61_-51dup
NM_000551.3:c.-61_-51dup , LRG_322t1:c.-61_-51dup	NP_000542.1:n.-61_-51dup
NM_198156.2:c.-61_-51dup	NP_937799.1:n.-61_-51dup
XM_011534078.1:c.-61_-51dup	XP_011532380.1:n.-61_-51dup
NM_001354723.1:c.-61_-51dup	NP_001341652.1:n.-61_-51dup
NM_000551.4:c.-61_-51dup MANE Select	NP_000542.1:n.-61_-51dup
NM_001354723.2:c.-61_-51dup	NP_001341652.1:n.-61_-51dup
NM_198156.3:c.-61_-51dup	NP_937799.1:n.-61_-51dup