Canonical Allele Identifier: CA357094

Gene: VHL

Linked Data

• ClinVar Variation Id: 223218
• ClinVar RCV Id: RCV001570948 ; RCV002256123 ; RCV003320604 ; RCV000208837 ; RCV002515563
• dbSNP Id: rs869025658
• ExAC: 3:10188351 GGTT / G
• gnomAD v2: 3-10188351-GGTT-G
• gnomAD v3: 3-10146667-GGTT-G
• gnomAD v4: 3-10146667-GGTT-G
• MyVariant Identifiers: chr3:g.10188357_10188359del (hg19) ; chr3:g.10188352_10188354del (hg19) ; chr3:g.10146673_10146675del (hg38) ; chr3:g.10146669_10146671del (hg38) ; chr3:g.10146668_10146670del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146673_10146675del , CM000665.2:g.10146673_10146675del	GRCh38
NC_000003.11:g.10188357_10188359del , CM000665.1:g.10188357_10188359del	GRCh37
NC_000003.10:g.10163357_10163359del	NCBI36
NG_008212.3:g.10039_10041del , LRG_322:g.10039_10041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*140+37_*140+39del	ENSP00000512434.1:n.*140+37_*140+39del
ENST00000696143.1:c.600-3114_600-3112del	ENSP00000512435.1:n.600-3114_600-3112del
ENST00000696153.1:c.463+37_463+39del	ENSP00000512444.1:n.463+37_463+39del
ENST00000256474.3:c.463+37_463+39del MANE Select	ENSP00000256474.3:n.463+37_463+39del
ENST00000256474.2:c.463+37_463+39del	ENSP00000256474.2:n.463+37_463+39del
ENST00000345392.2:c.341-3114_341-3112del	ENSP00000344757.2:n.341-3114_341-3112del
ENST00000477538.1:n.599+37_599+39del
NM_000551.3:c.463+37_463+39del , LRG_322t1:c.463+37_463+39del	NP_000542.1:n.463+37_463+39del
NM_198156.2:c.341-3114_341-3112del	NP_937799.1:n.341-3114_341-3112del
NM_001354723.1:c.*18-3114_*18-3112del	NP_001341652.1:n.*18-3114_*18-3112del
NM_000551.4:c.463+37_463+39del MANE Select	NP_000542.1:n.463+37_463+39del
NM_001354723.2:c.*18-3114_*18-3112del	NP_001341652.1:n.*18-3114_*18-3112del
NM_198156.3:c.341-3114_341-3112del	NP_937799.1:n.341-3114_341-3112del