Canonical Allele Identifier: CA432423319

Gene: VHL

Linked Data

• ClinVar Variation Id: 1745148
• ClinVar RCV Id: RCV002335831
• dbSNP Id: rs1205346910
• gnomAD v2: 3-10191512-CT-C
• COSMIC: COSM34003
• MyVariant Identifiers: chr3:g.10191513del (hg19) ; chr3:g.10149829del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149829del , CM000665.2:g.10149829del	GRCh38
NC_000003.11:g.10191513del , CM000665.1:g.10191513del	GRCh37
NC_000003.10:g.10166513del	NCBI36
NG_008212.3:g.13195del , LRG_322:g.13195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*183del	ENSP00000512434.1:n.*183del
ENST00000696143.1:c.642del	ENSP00000512435.1:n.642del
ENST00000696153.1:c.617del	ENSP00000512444.1:p.Leu206GlnfsTer?
ENST00000256474.3:c.506del MANE Select	ENSP00000256474.3:p.Leu169GlnfsTer?
ENST00000256474.2:c.506del	ENSP00000256474.2:p.Leu169GlnfsTer?
ENST00000345392.2:c.383del	ENSP00000344757.2:p.Leu128GlnfsTer?
ENST00000477538.1:n.642del
NM_000551.3:c.506del , LRG_322t1:c.506del	NP_000542.1:p.Leu169GlnfsTer?
NM_198156.2:c.383del	NP_937799.1:p.Leu128GlnfsTer?
NM_001354723.1:c.*60del	NP_001341652.1:n.*60del
NM_000551.4:c.506del MANE Select	NP_000542.1:p.Leu169GlnfsTer?
NM_001354723.2:c.*60del	NP_001341652.1:n.*60del
NM_198156.3:c.383del	NP_937799.1:p.Leu128GlnfsTer?