Canonical Allele Identifier: CA432423729

Gene: VHL

Linked Data

• ClinVar Variation Id: 1698896
• ClinVar RCV Id: RCV002272753
• dbSNP Id: rs2125130735
• COSMIC: COSM19403
• MyVariant Identifiers: chr3:g.10191582del (hg19)
• CIViC: CA432423729

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149898del , CM000665.2:g.10149898del	GRCh38
NC_000003.11:g.10191582del , CM000665.1:g.10191582del	GRCh37
NC_000003.10:g.10166582del	NCBI36
NG_008212.3:g.13264del , LRG_322:g.13264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*252del	ENSP00000512434.1:n.*252del
ENST00000696143.1:c.711del	ENSP00000512435.1:n.711del
ENST00000696153.1:c.686del	ENSP00000512444.1:p.Pro229GlnfsTer10
ENST00000256474.3:c.575del MANE Select	ENSP00000256474.3:p.Pro192GlnfsTer10
ENST00000256474.2:c.575del	ENSP00000256474.2:p.Pro192GlnfsTer10
ENST00000345392.2:c.452del	ENSP00000344757.2:p.Pro151GlnfsTer10
ENST00000477538.1:n.711del
NM_000551.3:c.575del , LRG_322t1:c.575del	NP_000542.1:p.Pro192GlnfsTer10
NM_198156.2:c.452del	NP_937799.1:p.Pro151GlnfsTer10
NM_001354723.1:c.*129del	NP_001341652.1:n.*129del
NM_000551.4:c.575del MANE Select	NP_000542.1:p.Pro192GlnfsTer10
NM_001354723.2:c.*129del	NP_001341652.1:n.*129del
NM_198156.3:c.452del	NP_937799.1:p.Pro151GlnfsTer10