Canonical Allele Identifier: CA357100

Gene: VHL

Linked Data

• ClinVar Variation Id: 223173
• ClinVar RCV Id: RCV000208842
• dbSNP Id: rs869025623
• COSMIC: COSM17882 ; COSM5369720
• MyVariant Identifiers: chr3:g.10183800del (hg19) ; chr3:g.10142116del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142116del , CM000665.2:g.10142116del	GRCh38
NC_000003.11:g.10183800del , CM000665.1:g.10183800del	GRCh37
NC_000003.10:g.10158800del	NCBI36
NG_008212.3:g.5482del , LRG_322:g.5482del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.269del	ENSP00000512434.1:p.Asn90ThrfsTer27
ENST00000696143.1:c.269del	ENSP00000512435.1:p.Asn90ThrfsTer27
ENST00000696153.1:c.269del	ENSP00000512444.1:p.Asn90ThrfsTer?
ENST00000256474.3:c.269del MANE Select	ENSP00000256474.3:p.Asn90ThrfsTer?
ENST00000256474.2:c.269del	ENSP00000256474.2:p.Asn90ThrfsTer?
ENST00000345392.2:c.269del	ENSP00000344757.2:p.Asn90ThrfsTer28
NM_000551.3:c.269del , LRG_322t1:c.269del	NP_000542.1:p.Asn90ThrfsTer?
NM_198156.2:c.269del	NP_937799.1:p.Asn90ThrfsTer28
XM_011534078.1:c.269del	XP_011532380.1:p.Asn90ThrfsTer27
NM_001354723.1:c.269del	NP_001341652.1:p.Asn90ThrfsTer27
NM_000551.4:c.269del MANE Select	NP_000542.1:p.Asn90ThrfsTer?
NM_001354723.2:c.269del	NP_001341652.1:p.Asn90ThrfsTer27
NM_198156.3:c.269del	NP_937799.1:p.Asn90ThrfsTer28