Canonical Allele Identifier: CA432421836

Gene: VHL

Linked Data

• ClinVar Variation Id: 1736103
• ClinVar RCV Id: RCV002373128
• COSMIC: COSM17757 ; COSM18143
• MyVariant Identifiers: chr3:g.10188247del (hg19) ; chr3:g.10188246del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146563del , CM000665.2:g.10146563del	GRCh38
NC_000003.11:g.10188247del , CM000665.1:g.10188247del	GRCh37
NC_000003.10:g.10163247del	NCBI36
NG_008212.3:g.9929del , LRG_322:g.9929del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*67del	ENSP00000512434.1:n.*67del
ENST00000696143.1:c.600-3224del	ENSP00000512435.1:n.600-3224del
ENST00000696153.1:c.390del	ENSP00000512444.1:p.Asn131ThrfsTer?
ENST00000256474.3:c.390del MANE Select	ENSP00000256474.3:p.Asn131ThrfsTer28
ENST00000256474.2:c.390del	ENSP00000256474.2:p.Asn131ThrfsTer28
ENST00000345392.2:c.341-3224del	ENSP00000344757.2:n.341-3224del
ENST00000477538.1:n.526del
NM_000551.3:c.390del , LRG_322t1:c.390del	NP_000542.1:p.Asn131ThrfsTer28
NM_198156.2:c.341-3224del	NP_937799.1:n.341-3224del
XM_011534078.1:c.*67del	XP_011532380.1:n.*67del
NM_001354723.1:c.*18-3224del	NP_001341652.1:n.*18-3224del
NM_000551.4:c.390del MANE Select	NP_000542.1:p.Asn131ThrfsTer28
NM_001354723.2:c.*18-3224del	NP_001341652.1:n.*18-3224del
NM_198156.3:c.341-3224del	NP_937799.1:n.341-3224del