Canonical Allele Identifier: CA020094

Gene: VHL

Linked Data

• ClinVar Variation Id: 182972
• ClinVar RCV Id: RCV000161076 ; RCV000586821
• dbSNP Id: rs730882031
• COSMIC: COSM17681
• MyVariant Identifiers: chr3:g.10183723del (hg19) ; chr3:g.10142039del (hg38)
• PubMed: PMID:8187067 ; PMID:9143408 ; PMID:20151405

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142039del , CM000665.2:g.10142039del	GRCh38
NC_000003.11:g.10183723del , CM000665.1:g.10183723del	GRCh37
NC_000003.10:g.10158723del	NCBI36
NG_008212.3:g.5405del , LRG_322:g.5405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.192del	ENSP00000512434.1:p.Ser65ArgfsTer2
ENST00000696143.1:c.192del	ENSP00000512435.1:p.Ser65ArgfsTer2
ENST00000696153.1:c.192del	ENSP00000512444.1:p.Ser65ArgfsTer2
ENST00000256474.3:c.192del MANE Select	ENSP00000256474.3:p.Ser65ArgfsTer2
ENST00000256474.2:c.192del	ENSP00000256474.2:p.Ser65ArgfsTer2
ENST00000345392.2:c.192del	ENSP00000344757.2:p.Ser65ArgfsTer2
NM_000551.3:c.192del , LRG_322t1:c.192del	NP_000542.1:p.Ser65ArgfsTer2
NM_198156.2:c.192del	NP_937799.1:p.Ser65ArgfsTer2
XM_011534078.1:c.192del	XP_011532380.1:p.Ser65ArgfsTer2
NM_001354723.1:c.192del	NP_001341652.1:p.Ser65ArgfsTer2
NM_000551.4:c.192del MANE Select	NP_000542.1:p.Ser65ArgfsTer2
NM_001354723.2:c.192del	NP_001341652.1:p.Ser65ArgfsTer2
NM_198156.3:c.192del	NP_937799.1:p.Ser65ArgfsTer2